Pubblicazioni

In questa sezione viene presentata una selezione della produzione scientifica del gruppo di ricerca, in particolare le comunicazioni scientifiche e gli articoli pubblicati dal 2004 su riviste nazionali ed internazionali che hanno Impact Factor.
 

Totale pubblicazioni a partire dal 2011: 309


Anno

2019; 15(): 1176934319850144

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

Biagini T, Petrizzelli F, Truglio M, Cespa R, Barbieri A, Capocefalo D, Castellana S, Tevy MF, Carella M, Mazza T


2019; 8(5):

E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis.

Venuto S, Merla G


2019; 5(5): eaau8857

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains.

Di Rienzo M, Antonioli M, Fusco C, Liu Y, Mari M, Orhon I, Refolo G, Germani F, Corazzari M, Romagnoli A, Ciccosanti F, Mandriani B, Pellico MT, De La Torre R, Ding H, Dentice M, Neri M, Ferlini A, Reggiori F, Kulesz-Martin M, Piacentini M, Merla G, Fimia


2019; (): e27831

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Scala M, Morana G, Sementa AR, Merla G, Piatelli G, Capra V, Pavanello M


Clinical Case Reports 2019; :

Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia

Mastroianno S., Leone M.P., Castellana S., Palumbo P., Crociani P., Russo A., Di Stolfo G., Carella M.

2019; ():

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Visioli A, Giani F, Trivieri N, Pracella R, Miccinilli E, Cariglia MG, Palumbo O, Arleo A, Dezi F, Copetti M, Cajola L, Restelli S, Papa V, Sciuto A, Latiano TP, Carella M, Amadori D, Gallerani G, Ricci R, Alfieri S, Pesole G, Vescovi AL, Binda E


2019; 79(9): 2182-2194

AQP4 Aggregation State Is a Determinant for Glioma Cell Fate.

Simone L, Pisani F, Mola MG, De Bellis M, Merla G, Micale L, Frigeri A, Vescovi AL, Svelto M, Nicchia GP


2019; ():

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G


2019; ():

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia.

Daniele G, L'Abbate A, Turchiano A, Palumbo O, Carella M, Lo Cunsolo C, Iuzzolino P, Lonoce A, Hernández-Sánchez M, Minoia C, Leone P, Hernandez-Rivas JM, Storlazzi CT


2019; ():

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Palumbo P, Petracca A, Maggi R, Biagini T, Nardella G, Sacco MC, Di Schiavi E, Carella M, Micale L, Castori M


2019; 15(3): e1008075

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F


2019; 38(1): 108

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.

Sarogni P, Palumbo O, Servadio A, Astigiano S, D'Alessio B, Gatti V, Cukrov D, Baldari S, Pallotta MM, Aretini P, Dell'Orletta F, Soddu S, Carella M, Toietta G, Barbieri O, Fontanini G, Musio A


2019; ():

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M


2019; 53(): 95-99

Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.

Castellana S, Mastroianno S, Palumbo P, Palumbo O, Biagini T, Leone MP, De Luca G, Potenza DR, Amico CM, Mazza T, Russo A, Di Stolfo G, Carella M


2018; 32(6): 877-889

Parathyroid carcinoma.

Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC


2018; 9(): 626

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Malerba N, Towner S, Keating K, Squeo GM, Wilson W, Merla G


The EuroBiotech Journal 2018; 2(1):

Genetic testing for Marfan syndrome

Rakhmanov Y., Maltese P.E., Marinelli C., Castori M., Beccari T., Dundar M., Bertelli M.

2018; 19(1): 129

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V


BMC Res Notes 2018; 11(1): 911

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V


India journal of nephrology 2018; 28(1): 84-85

Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.

Krishnamurthy S, Pavani C, Kurup PM, Palanisamy S, Jagadeesh A, Sekar K, Mahadevan S, Bisceglia L


2018; ():

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A


2018; ():

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E


2018; ():

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways.

Venuto S, Castellana S, Monti M, Appolloni I, Fusilli C, Fusco C, Pucci P, Malatesta P, Mazza T, Merla G, Micale L


2018; ():

Kabuki syndrome: international consensus diagnostic criteria.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N, Kabuki Syndrome Medical Advisory Board.


2018; 26(11): 1708-1712

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L


2018; 9(): 559

The Emerging Role of Altered d-Aspartate Metabolism in Schizophrenia: New Insights From Preclinical Models and Human Studies.

Errico F, Nuzzo T, Carella M, Bertolino A, Usiello A


2018; ():

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.

Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A


2018; 8(1): 10163

DNA methylation landscape of the genes regulating D-serine and D-aspartate metabolism in post-mortem brain from controls and subjects with schizophrenia.

Keller S, Punzo D, Cuomo M, Affinito O, Coretti L, Sacchi S, Florio E, Lembo F, Carella M, Copetti M, Cocozza S, Balu DT, Errico F, Usiello A, Chiariotti L


2018; 33(): 146-150

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

Pollini D, Loffredo R, Cardano M, Conti L, Lattante S, Notarangelo A, Sabatelli M, Provenzani A


2018; ():

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1.

Rotunno R, Diociaiuti A, Agolini E, Latorre S, Carnevale C, Novelli A, El Hachem M, Castori M


2018; ():

Molecular pathogenesis of parathyroid tumours.

Cinque L, Pugliese F, Salcuni AS, Scillitani A, Guarnieri V


The EuroBiotech Journal 2018; 2(s1) 2018: 38-41

Genetic testing for Marfan-like disorders

Rakhmanov Y, Maltese PE, Paolacci S, Marinelli C, Castori M, Beccari T, Dundar M, Bertelli M.

The EuroBiotech Journal 2018; 2(1)-2018: 42-44

Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

Rakhmanov Y, Maltese PE, Bruson A, Castori M, Beccari T, Dundar M, Bertelli M.

2018; ():

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Morlino S, Dordoni C, Sperduti I, Clark CJ, Piedimonte C, Fontana A, Colombi M, Grammatico P, Copetti M, Castori M


RMD open 2018; 4(Suppl 1): e000790

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines.

Sulli A, Talarico R, Scirè CA, Avcin T, Castori M, Ferraris A, Frank C, Grunert J, Paolino S, Bombardieri S, Schneider M, Smith V, Cutolo M, Mosca M, Malfait F


2018; 18(1): 340

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.

Capozza M, Chinellato I, Guarnieri V, Di Lorgi N, Accadia M, Traggiai C, Mattioli G, Di Mauro A, Laforgia N


Ehlers-Danlos Syndrome: A Multidisciplinary Approach 2018; :

Chapter 13. Neurological complications of Ehlers-Danlos syndromes and hypermobility spectrum disorders

Voermans NC, Castori M

Ehlers-Danlos Syndrome: A Multidisciplinary Approach 2018; :

Chapter 10. Gastrointestinal complications of Ehlers-Danlos syndromes and hypermobility spectrum disorders

Morlino S, de Vries D, Veenhuizen M, Castori M

Ehlers-Danlos Syndrome: A Multidisciplinary Approach 2018; :

Chapter 5. Generalised joint hypermobility and joint hypermobility syndromes: the clinical perspective

Jacobs JWG, Castori M, Da Silva JAP

2018; ():

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvat


2018; 26(4): 582-586

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Morlino S, Castori M, Dordoni C, Cinquina V, Santoro G, Grammatico P, Venturini M, Colombi M, Ritelli M


2018; 26(2): 210-219

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, D


2018; 32(6): 899-925

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy.

Guerra L, Castori M, Didona B, Castiglia D, Zambruno G


Attention deficit and hyperactivity disorders 2018; 10(3): 163-175

Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

Baeza-Velasco C, Sinibaldi L, Castori M


2018; 32(5): 704-719

Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.

Guerra L, Castori M, Didona B, Castiglia D, Zambruno G


2018; 11(7): 689-703

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Baban A, Castori M


2018; ():

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA, Undiagnosed Disease Network Italy.


2018; 177(6): 546-556

Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.

Piedimonte C, Penge R, Morlino S, Sperduti I, Terzani A, Giannini MT, Colombi M, Grammatico P, Cardona F, Castori M


2018; 25(7): 761-771

The aberrantly expressed miR-372 partly impairs sensitivity to apoptosis in parathyroid tumor cells.

Verdelli C, Forno I, Morotti A, Creo P, Guarnieri V, Scillitani A, Cetani F, Vicentini L, Balza G, Beretta E, Ferrero S, Vaira V, Corbetta S


2018; 9(10): 937

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies.

Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL


2018; ():

Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Guarnieri V, Castori M


2018; 176(9): 2028-2033

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F


2018; ():

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C


2018; 51(5): 809-813

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.

Di Stolfo G, Palumbo P, Castellana S, Mastroianno S, Biagini T, Palumbo O, Leone MP, De Luca G, Potenza DR, Mazza T, Russo AA, Carella M


2018; ():

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G


2018; 9(29): 20721-20733

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

Muscarella LA, Turchetti D, Fontana A, Baorda F, Palumbo O, la Torre A, de Martino D, Franco R, Losito NS, Repaci A, Pagotto U, Cinque L, Copetti M, Chiofalo MG, Pezzullo L, Graziano P, Scillitani A, Guarnieri V


2018; 1865(6): 908-919

TRIM50 regulates Beclin 1 proautophagic activity.

Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G


2018; 61(5): 248-252

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M


2018; 208(3): 951-961

The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer.

Macchia G, Severgnini M, Purgato S, Tolomeo D, Casciaro H, Cifola I, L'Abbate A, Loverro A, Palumbo O, Carella M, Bianchini L, Perini G, De Bellis G, Mertens F, Rocchi M, Storlazzi CT


2018; ():

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.

Vernon H, Cohen J, De Nittis P, Fatemi A, McClellan R, Goldstein A, Malerba N, Guex N, Reymond A, Merla G


2018; ():

Effect Of Diazoxide on Friedreich Ataxia Models.

Santoro A, Anjomani Virmouni S, Paradies E, Villalobos Coa VL, Al-Mahdawi S, Khoo M, Porcelli V, Vozza A, Perrone M, Denora N, Taroni F, Merla G, Palmieri L, Pook MA, Marobbio CMT


2018; 176(2): 391-398

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O


2018; ():

MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences.

LAbbate A, Tolomeo D, Cifola I, Severgnini M, Turchiano A, Augello B, Squeo G, D Addabbo P, Traversa D, Daniele G, Lonoce A, Pafundi M, Carella M, Palumbo O, Dolnik A, Muehlematter D, Schoumans J, Van Roy N, De Bellis G, Martinelli G, Merla G, Bullinger L


2017; 38(5): 473-479

Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.

Maltese P, Ziccardi L, Iarossi G, Gusson E, D'Agruma L, Marchini G, Buzzonetti L, Nicoletti A, Benedetti S, Bertelli M


Acta Myologica 2017; 36(3): 163-177

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.

Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V


2017; 8(): 206

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.

De Cinque M, Palumbo O, Mazzucco E, Simone A, Palumbo P, Ciavatta R, Maria G, Ferese R, Gambardella S, Angiolillo A, Carella M, Garofalo S


2017; 19(1):

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G


2017; 8(62): 105320-105339

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater's papilla adenocarcinoma.

Mazza T, Copetti M, Capocefalo D, Fusilli C, Biagini T, Carella M, De Bonis A, Mastrodonato N, Piepoli A, Pazienza V, Maiello E, di Mola FF, di Sebastiano P, Andriulli A, Tavano F


2017; 8(62): 104913-104927

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma.

Mazzoccoli G, Castellana S, Carella M, Palumbo O, Tiberio C, Fusilli C, Capocefalo D, Biagini T, Mazza T, Muzio LL


2017; 53(): 86-93

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

d'Orsi G, Martino T, Palumbo O, Pascarella MG, Palumbo P, Di Claudio MT, Avolio C, Carella M


2017; 101(5): 844-855

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radovic S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC


2017; ():

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

Cinque L, Sparaneo A, Salcuni AS, De Martino DG, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy G, Cole DEC, Scillitani A, Guarnieri V


2017; ():

Insights from Molecular Characterization of Adult Patients of Families with Multigenerational Diabetes Mellitus.

Pezzilli S, Ludovico O, Biagini T, Mercuri L, Alberico F, Lauricella E, Dallali H, Capocefalo D, Carella M, Miccinilli E, Piscitelli P, Scarale MG, Mazza T, Trischitta V, Prudente S


2017; ():

PRIMARY ALDOSTERONISM AS A CAUSE OF SECONDARY OSTEOPOROSIS.

Salcuni AS, Carnevale V, Battista C, Palmieri S, Eller-Vainicher C, Guarnieri V, Pugliese F, Guglielmi G, Desina G, Minisola S, Chiodini I, Scillitani A


2017; ():

Novel Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family with Familial Isolated Hypoparathyroidism.

Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P


Genetica Umana e Medica_ Neri Genuardi 2017 2017; :

Malattie ereditarie sistemiche del tessuto connettivo

Castori M., Grammatico P.

2017; ():

Contemporary approach to joint hypermobility and related disorders.

Castori M, Hakim A


2017; 66(S1): A48 182 OR

Expanding the knowledge on the spectrum of familial diabetes in adult patients

Pezzilli S., Ludovico O., Biagini T., Mercuri L., Alberico F., Lauricella E., Dallali H., Basile G., Miccinilli E., Piscitelli P., De Cosmo S., Carella M., Mazza T., Trischitta V., Prudente S.

2017; 18(9):

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G


2017; ():

Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.

Verdelli C, Avagliano L, Guarnieri V, Cetani F, Ferrero S, Vicentini L, Beretta E, Scillitani A, Creo P, Bulfamante GP, Vaira V, Corbetta S


2017; 18(1): 83

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC


2017; ():

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D


2017; 18(7):

Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling.

Palmieri O, Creanza TM, Bossa F, Latiano T, Corritore G, Palumbo O, Martino G, Biscaglia G, Scimeca D, Carella M, Ancona N, Andriulli A, Latiano A


2017; (140)1:

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, Carli D, Peris C, Riccio A, Ferrero GB


2017; 14(1): 23-30

Novel association of MEN1 gene mutations with parathyroid carcinoma.

Cinque L, Sparaneo A, Cetani F, Coco M, Clemente C, Chetta M, Balsamo T, Battista C, Sanpaolo E, Pardi E, D'Agruma L, Marcocci C, Maiello E, Hendy GN, Cole DEC, Scillitani A, Guarnieri V


2017; 13(6): e1005628

High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.

Castellana S, Fusilli C, Mazzoccoli G, Biagini T, Capocefalo D, Carella M, Vescovi AL, Mazza T


NPJ schizophrenia 2017; 3(): 16

Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients.

Nuzzo T, Sacchi S, Errico F, Keller S, Palumbo O, Florio E, Punzo D, Napolitano F, Copetti M, Carella M, Chiariotti L, Bertolino A, Pollegioni L, Usiello A


2017; ():

Alterations of DNA methylation in parathyroid tumors.

Guarnieri V, Muscarella LA, Verdelli C, Corbetta S


Journal of pediatric genetics. 2017; 6(2): 98-102

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G


2017; ():

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Fischetto R, Palumbo O, Ortolani F, Palumbo P, Leone MP, Causio FA, Pesce S, Digilio MC, Carella M, Papadia F


2017; ():

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M


2017; ():

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M


2017; 58(4): 2193-2197

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

Bianco A, Bisceglia L, Russo L, Palese LL, D'Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V


2017; ():

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.

Daniele G, Simonetti G, Fusilli C, Iacobucci I, Lonoce A, Palazzo A, Lomiento M, Mammoli F, Marsano RM, Marasco E, Mantovani V, Quentmeier H, Drexler HG, Ding J, Palumbo O, Carella M, Nadarajah N, Perricone M, Ottaviani E, Baldazzi C, Testoni N, Papayanni


2017; ():

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, Palladino T, Stallone R, Mazza T, Cocchi R, Carella M


2017; ():

Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells.

Binda E, Visioli A, Giani F, Trivieri N, Palumbo O, Restelli S, Dezi F, Mazza T, Fusilli C, Legnani F, Carella M, Di Meco F, Duggal R, Vescovi AL


2017; ():

TGFbeta and miRNA regulation in familial and sporadic breast cancer.

Danza K, De Summa S, Pinto R, Pilato B, Palumbo O, Carella M, Popescu O, Digennaro M, Lacalamita R, Tommasi S


2017; ():

DNA damage response defect in Williams-Beuren syndrome.

Guenat D, Merla G, Deconinck E, Borg C, Rohrlich PS


2016; ():

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.

Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M


2016; 39(2): 227-33

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F


Molecular syndromology 2016; 7(5): 282-286

PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.

Palumbo O, Palumbo P, Leone MP, Stallone R, Palladino T, Vendemiale M, Palladino S, Papadia F, Carella M, Fischetto R


2016; 81(3): 208-9

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P


2016; 34(19): 2216-24

Systemic immunodominant CD8 responses with an effector-like phenotype are induced by intravaginal immunization with attenuated HSV vectors expressing HIV Tat and mediate protection against HSV infection.

Nicoli F, Gallerani E, Skarlis C, Sicurella M, Cafaro A, Ensoli B, Caputo A, Marconi PC, Gavioli R


2016; ():

Filamin A is reduced and contributes to the CASR sensitivity in human parathyroid tumors.

Mingione A, Verdelli C, Ferrero S, Vaira V, Guarnieri V, Scillitani A, Vicentini L, Balza G, Beretta E, Terranegra A, Vezzoli G, Soldati L, Corbetta S


2016; 18(12): 1471-1475

Intraspinal stem cell transplantation for amyotrophic lateral sclerosis: Ready for efficacy clinical trials?

Atassi N, Beghi E, Blanquer M, Boulis NM, Cantello R, Caponnetto C, Chiò A, Dunnett SB, Feldman EL, Vescovi A, Mazzini L, attendees of the International Workshop on Progress in Stem Cells Research for ALS/MND.


Molecular Syndromology 2016; :

PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

Palumbo O., Palumbo P., Leone M.P., Stallone R., Palladino T., Vendemiale M., Palladino S., Papadia F., Carella M., FIschetto R:

2016; 11(1): 142

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.

Baldo C, Casareto L, Renieri A, Merla G, Garavaglia B, Goldwurm S, Pegoraro E, Moggio M, Mora M, Politano L, Sangiorgi L, Mazzotti R, Viotti V, Meloni I, Pellico MT, Barzaghi C, Wang CM, Monaco L, Filocamo M


2016; 6(): 32474

Identification of p53-target genes in Danio rerio.

Mandriani B, Castellana S, Rinaldi C, Manzoni M, Venuto S, Rodriguez-Aznar E, Galceran J, Nieto MA, Borsani G, Monti E, Mazza T, Merla G, Micale L


2016; 99(3): 704-10

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZH, Fish RJ, Eldo


2016; 6(): 31549

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.

Palmieri O, Mazza T, Merla A, Fusilli C, Cuttitta A, Martino G, Latiano T, Corritore G, Bossa F, Palumbo O, Muscarella LA, Carella M, Graziano P, Andriulli A, Latiano A


2016; ():

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype.

Tommasi S, Pinto R, Danza K, Pilato B, Palumbo O, Micale L, De Summa S


2016; ():

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.

Mazzoccoli G, Colangelo T, Panza A, Rubino R, Tiberio C, Palumbo O, Carella M, Trombetta D, Gentile A, Tavano F, Valvano MR, Storlazzi CT, Macchia G, De Cata A, Bisceglia G, Capocefalo D, Colantuoni V, Sabatino L, Piepoli A, Mazza T


2016; ():

A novel MED12 mutation: Evidence for a fourth phenotype.

Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-vanSilfhout A, Merla G


2016; 8(): 69

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F


2016; 35(1): 51

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V, Devecchi A, Palumbo O, Carella M, Penso D, Milione M, Valle G, Pierotti MA, Vitellaro M, Bertario L, Canevari S, Signoroni S, De Cecco L


2016; ():

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, 2p15 Consortium, 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D,


2016; 9(): 40

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M


2016; ():

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L


2016; ():

Vitamin D status in primary hyperparathyroidism: effect of genetic background.

Battista C, Guarnieri V, Carnevale V, Baorda F, Pileri M, Garrubba M, Salcuni AS, Chiodini I, Minisola S, Romagnoli E, Eller-Vainicher C, Santini SA, Parisi S, Frusciante V, Fontana A, Copetti M, Hendy GN, Scillitani A, Cole DE


2016; ():

Clock-genes and mitochondrial respiratory activity: Evidence of a reciprocal interplay.

Scrima R, Cela O, Merla G, Augello B, Rubino R, Quarato G, Fugetto S, Menga M, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N


2016; ():

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.

Mazza T, Mazzoccoli G, Fusilli C, Capocefalo D, Panza A, Biagini T, Castellana S, Gentile A, De Cata A, Palumbo O, Stallone R, Rubino R, Carella M, Piepoli A


2016; ():

Clock genes-dependent acetylation of complex I sets rhythmic activity of mitochondrial OxPhos.

Cela O, Scrima R, Pazienza V, Merla G, Benegiamo G, Augello B, Fugetto S, Menga M, Rubino R, Fuhr L, Relógio A, Piccoli C, Mazzoccoli G, Capitanio N


2016; 45(4): 626-9

Support Vector Machine Based on microRNA Expression Profiles to Predict Histological Origin of Ampullary Carcinoma: Case Report of a Patient Affected From Adenocarcinoma of the Papilla of Vater With Lynch Syndrome.

Tavano F, Copetti M, Piepoli A, Carella M, Gentile A, Burbaci FP, Fontana A, De Bonis A, di Mola FF, di Sebastiano P, Andriulli A


2016; ():

EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.

Sanpaolo E, Miroballo M, Corbetta S, Verdelli C, Baorda F, Balsamo T, Graziano P, Fabrizio FP, Cinque L, Scillitani A, Muscarella LA, Guarnieri V


2016; (): 1-4

A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causing MYC up-regulation and concomitant loss of PVT1, miR-15/16 and DLEU7.

Macchia G, Lonoce A, Venuto S, Macrí E, Palumbo O, Carella M, Lo Cunsolo C, Iuzzolino P, Hernández-Sánchez M, Hernandez-Rivas JM, Storlazzi CT


2016; 12(1): 1-222

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akemat


2016; :

Deregulated expression of cryptochrome genes in human colorectal cancer

Mazzoccoli G., Colangelo T., Panza A., Rubino A., De Cata A., Tiberio C., Valvano M.R., Pazienza V., Merla G., Augello B., Trombetta D., Storlazzi C.T., Macchia G., Gentile A., Tavano F., Vinciguerra M., Bisceglia G., Rosato V., Colantuoni V., sabatino L.


64 Congresso Nazionale SINCH Napoli 24_26 Giugno 2016 2015; :

Identificazione di un pannello di miRNA associato al ?Fenotipo Aggressivo? ed alla prognosi dei gliomi.

Icolaro N., Parrella P., Barbano R., Palumbo O., Pasculli B., Copetti M., Carella M., Fazio V.M., D'Angelo V.

64° congresso nazionale SINCH Napoli 24-26 Giugno 2015 2015; :

Screening di mutazioni dei geni KRIT1, MGC4607 e PDCD10 in una casistica italiana di pazienti affetti da angiomi cavernosi multipli del sud Italia

D'Agruma L., Stanziale P., Rendina M., Rella A., Catapano D., D'Angelo V., Zelante L.

Endocrinology, diabetes and metabolism case reports 2015; 2015(): 150019

Primary hyperparathyroidism and Klinefelter's syndrome in a young man.

Castellano E, Pellegrino M, Attanasio R, Guarnieri V, Maffè A, Borretta G


2015; 14(1): 211

t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.

L'Abbate A, Tolomeo D, De Astis F, Lonoce A, Cunsolo CL, Mühlematter D, Schoumans J, Vandenberghe P, Van Hoof A, Palumbo O, Carella M, Mazza T, Storlazzi CT


2015; 26(3): 327-32

MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.

Ottaviani V, Bartocci A, Pantaleo M, Giglio S, Cecconi M, Verrotti A, Merla G, Stangoni G, Prontera P


2015; 10(3): e0120859

Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegation.

Tritto P, Palumbo V, Micale L, Marzulli M, Bozzetti MP, Specchia V, Palumbo G, Pimpinelli S, Berloco M


2015; 8(): 93

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Nicita F, Di Giacomo M, Palumbo O, Ferri E, Maiorani D, Vigevano F, Carella M, Capuano A


2015; ():

miRNA profiling in serum and tissue samples to assess noninvasive biomarkers for NSCLC clinical outcome.

Petriella D, De Summa S, Lacalamita R, Galetta D, Catino A, Logroscino AF, Palumbo O, Carella M, Zito FA, Simone G, Tommasi S


2015; 105(): 274-288

Design and synthesis of 2-oxindole based multi-targeted inhibitors of PDK1/Akt signaling pathway for the treatment of glioblastoma multiforme.

Sestito S, Nesi G, Daniele S, Martelli A, Digiacomo M, Borghini A, Pietra D, Calderone V, Lapucci A, Falasca M, Parrella P, Notarangelo A, Breschi MC, Macchia M, Martini C, Rapposelli S


2015; 781(): 32-36

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GB, Romano C, d'Adamo AP, Faletra F, Vozzi D


2015; ():

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160?kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M


2015; 16(1): 69

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M


2015; 10(8): e0135855

Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.

Ludovico O, Carella M, Bisceglia L, Basile G, Mastroianno S, Palena A, De Cosmo S, Copetti M, Prudente S, Trischitta V


2015; 8(): 66

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M


2015; ():

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G


2015; ():

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Bianco A, Martínez-Romero I, Bisceglia L, D'Agruma L, Favia P, Ruiz-Pesini E, Guerriero S, Montoya J, Petruzzella V


2015; (): 1-14

Systematic analysis of circadian genes using genome-wide cDNA microarrays in the inflammatory bowel disease transcriptome.

Palmieri O, Mazzoccoli G, Bossa F, Maglietta R, Palumbo O, Ancona N, Corritore G, Latiano T, Martino G, Rubino R, Biscaglia G, Scimeca D, Carella M, Annese V, Andriulli A, Latiano A


2015; 64(1): A114

Comparison of clinical features and mortality rate of adult patients with mutigenerational diabetes and patients with type 2 diabetes

Ludovico O., Carella M., Bisceglia L., Basile G., Mastroianno S., Palena A., Copetti M., De Cosmo S., Prudente S., Trischitta V.

2015; 15(): 470

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival.

Micale L, Fusco C, Fontana A, Barbano R, Augello B, De Nittis P, Copetti M, Pellico MT, Mandriani B, Cocciadiferro D, Parrella P, Fazio VM, Dimitri LM, D'Angelo V, Novielli C, Larizza L, Daga A, Merla G


2015; ():

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Tri


2015; ():

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M


2015; ():

Genome-wide Pathway Analysis Using Gene Expression Data of Colonic Mucosa in Patients with Inflammatory Bowel Disease.

Palmieri O, Creanza TM, Bossa F, Palumbo O, Maglietta R, Ancona N, Corritore G, Latiano T, Martino G, Biscaglia G, Scimeca D, De Petris MP, Carella M, Annese V, Andriulli A, Latiano A


2015; ():

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.

De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A


2015; 8(): 15

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication.

Palumbo O, Palumbo P, Ferri E, Riviello FN, Cloroformio L, Carella M, Di Giacomo MC


2015; 25(2): 155-66

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccol


2015; ():

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G


2014; (): 1-8

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puym


2014; :

Tumour-associated fibroblasts contribute to neoangiogenesis in human parathyroid neoplasia

Verdelli C., Avagliano L. , Creo P., Guarnieri V. , Scillitani A ., Vicentini L . , Steffano G.B., Beretta E. , Soldati L., Costa E., Spada A., Bulfamante G.P. and Corbetta S.


2014; 112(1): 26-32

Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases.

Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A


2014; 15(4): 237-42

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E


2014; ():

Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M


2014; 12(1): 319

Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients.

Danza K, De Summa S, Pilato B, Carella M, Palumbo O, Popescu O, Paradiso A, Pinto R, Tommasi S


2014; ():

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M


2014; ():

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Khattabi LE, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian


2014; (): jc20142857

Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.

D'Agruma L, Coco M, Guarnieri V, Battista C, Canaff L, Salcuni AS, Corbetta S, Cetani F, Minisola S, Chiodini I, Eller-Vainicher C, Spada A, Marcocci C, Guglielmi G, Zini M, Clemente R, Wong BY, de Martino D, Scillitani A, Hendy GN, Cole DE


2014; 536(2): 332-5

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

Ercolino T, Lai R, Giachè V, Melchionda S, Carella M, Delitala A, Mannelli M, Fanciulli G


2014; 23(10): 2752-68

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Tro


2014; 78(8): 1201-10

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A, Melchionda S, Carella M, Trevisi P, Bovo R, Manara R, Martini A


2014; 37(12): e258-60

Low Prevalence of HNF1A Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital.

Delvecchio M, Ludovico O, Menzaghi C, Di Paola R, Zelante L, Marucci A, Grasso V, Trischitta V, Carella M, Barbetti F


2014; 15(): 88

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Mozzillo E, Delvecchio M, Carella M, Grandone E, Palumbo P, Salina A, Aloi C, Buono P, Izzo A, D'Annunzio G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A


BMC ENDOCRINE DISORDERS 2014; 14(1): 81

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.

Mastromatteo E, Lamacchia O, Campo MR, Conserva A, Baorda F, Cinque L, Guarnieri V, Scillitani A, Cignarelli M


2014; (): 1-8

MicroRNA expression profiling in male and female familial breast cancer.

Pinto R, De Summa S, Danza K, Popescu O, Paradiso A, Micale L, Merla G, Palumbo O, Carella M, Tommasi S


2014; 63 (S1): 136 OR

Mutations in the APPL1 Gene May Contribute to Familial Diabetes

Prudente S., Prapaporn J., Marucci A., Ludovico O., Mazza T., Hastings T., Morini E., Mercuri L., Bailetti D., Mendonca C., Alberico F., Basile G., Romani M., Miccinilli E., Carella M., Barbetti F., Trischitta V., Di Paola R., Doria A..

2014; 57: S154

Mutations in APPL1 gene may contribute to familial diabetes mellitus

Prudente S., Prapaporn J., Marucci A., Ludovico O., Mazza T., Hastings T., Mercuri L., Bailetti D., Mendonca C., Carella M., Barbetti F., Trischitta V., Di Paola R., Doria A.

2014; 9(8): e104080

Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy.

Conese M, Castellani S, Lepore S, Palumbo O, Manca A, Santostasi T, Polizzi AM, Copetti M, Di Gioia S, Casavola V, Guerra L, Diana A, Montemurro P, Mariggiò MA, Gallo C, Maffione AB, Carella M


2014; 164A(3): 828-33

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Palumbo O, Fichera M, Palumbo P, Rizzo R, Mazzolla E, Cocuzza DM, Carella M, Mattina T


2014; 538(2): 373-8

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Palumbo P, Antona V, Palumbo O, Piccione M, Nardello R, Fontana A, Carella M, Corsello G


2014; 88(2): 345-57

Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes.

Volpicella M, Costanza A, Palumbo O, Italiano F, Claudia L, Placido A, Picardi E, Carella M, Trotta M, Ceci LR


2014; ():

MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis.

Danza K, De Summa S, Pinto R, Pilato B, Palumbo O, Merla G, Simone G, Tommasi S


2014; ():

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP


2014; 353(1): 41-51

Translocation of the proto-oncogene Bcl-6 in human glioblastoma multiforme.

Ruggieri S, Tamma R, Marzullo A, Annese T, Marinaccio C, Errede M, Susca FC, Senetta R, Cassoni P, Vacca A, Albano F, Saracino C, Notarangelo A, Specchia G, Ribatti D, Nico B


2014; 9(10): e108950

A MiRNA Signature for Defining Aggressive Phenotype and Prognosis in Gliomas.

Barbano R, Palumbo O, Pasculli B, Galasso M, Volinia S, D'Angelo V, Icolaro N, Coco M, Dimitri L, Graziano P, Copetti M, Valori VM, Maiello E, Carella M, Fazio VM, Parrella P


2014; 37(4): 281-8

A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.

Chiofalo MG, Sparaneo A, Chetta M, Franco R, Baorda F, Cinque L, Granatiero M, D'Agruma L, Pezzullo L, Scillitani A, Guarnieri V


2014; ():

Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.

Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Macrina L, Mingione A, Brasacchio C, Eller-Vainicher C, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L


2014; ():

Calcium-sensing related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V


2014; 171(3): 399-406

Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism.

Eller-Vainicher C, Battista C, Guarnieri V, Muscarella S, Palmieri S, Salcuni AS, Guglielmi G, Corbetta S, Minisola S, Spada A, Hendy GN, Cole DE, Chiodini I, Scillitani A


2014; ():

Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer.

L'Abbate A, Macchia G, D'Addabbo P, Lonoce A, Tolomeo D, Trombetta D, Kok K, Bartenhagen C, Whelan CW, Palumbo O, Severgnini M, Cifola I, Dugas M, Carella M, Bellis GD, Rocchi M, Carbone L, Storlazzi CT


2014; ():

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte


Journal of Autism and Developmental Disorders 2014; ():

Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder.

Prontera P, Serino D, Caldini B, Scarponi L, Merla G, Testa G, Muti M, Napolioni V, Mazzotta G, Piccirilli M, Donti E


2014; ():

Rheumatoid arthritis and the biological clock.

De Cata A, D'Agruma L, Tarquini R, Mazzoccoli G


2014; ():

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G,


Biochimica et Biophysica Acta 2014; (): 1-12

Peroxisome proliferator-activated receptor ?-mediated induction of microRNA-145 opposes tumor phenotype in colorectal cancer.

Panza A, Votino C, Gentile A, Valvano MR, Colangelo T, Pancione M, Merla G, Andriulli A, Sabatino L, Vinciguerra M, Mazzoccoli G, Colantuoni V, Piepoli A


2014; 5(): e1076

Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer.

De Summa S, Pinto R, Pilato B, Sambiasi D, Porcelli L, Guida G, Mattioli E, Paradiso A, Merla G, Micale L, De Nittis P, Tommasi S


2014; ():

TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation and Celiac Disease.

Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A


2014; 15(1): 15

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D


2013; ():

Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme.

Notarangelo A, Trombetta D, D'Angelo V., Parrella P, Palumbo O, Storlazzi CT, Impera L, Muscarella LA, La Torre A, Affuso A, Fazio VM, Carella M, Zelante L


2013; 73(1): 50-8

Molecular Dissection of the VHL Gene in Solitary Capillary Hemangioblastoma of the Central Nervous System.

Muscarella LA, la Torre A, Faienza A, Catapano D, Bisceglia M, D'Angelo V, Parrella P, Coco M, Fini G, Tancredi A, Zelante L, Fazio VM, D'Agruma L


2013; 8(1): 129

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Filocamo M, Baldo C, Goldwurm S, Renieri A, Angelini C, Moggio M, Mora M, Merla G, Politano L, Garavaglia B, Casareto L, Bricarelli FD, for Telethon Network of Genetic Biobanks Staff


2013; 8(3): e57892

Differences in gene expression and cytokine release profiles highlight the heterogeneity of distinct subsets of adipose tissue-derived stem cells in the subcutaneous and visceral adipose tissue in humans.

Perrini S, Ficarella R, Picardi E, Cignarelli A, Barbaro M, Nigro P, Peschechera A, Palumbo O, Carella M, De Fazio M, Natalicchio A, Laviola L, Pesole G, Giorgino F


2013; 8(12): e82292

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnier


XVI Congresso Nazionale SIGU 2013; : 15

MicroRNA-139-5p regulates human TIM expression in colon cancer cell lines

Panza A., Gentile A., Valvano R., Augello B., Tavano F., Merla G., Guarnieri V., Andriulli A., Mazzoccoli G., Piepoli A.

2013; 45: S56

Hepatitis delta virus (HDV) induces specific DNA methylation events towards malignancy in hepatoma cells

Benegiamo G., Vinciguerra M., Guarnieri V., Niro G.A., Andriulli A., Pazienza V.

2013; 164(1): e41-3

Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.

Laborante A, Longo C, De Bonis P, Bisceglia L


2013; 161(11): 2894-901

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A


2013; 8(10): e78452

Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma.

Valletti A, Gigante M, Palumbo O, Carella M, Divella C, Sbisà E, Tullo A, Picardi E, D'Erchia AM, Battaglia M, Gesualdo L, Pesole G, Ranieri E


2013; 164(1): 182-5

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.

Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N


MOLECULAR SYNDROMOLOGY 2013; : 1-8

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome

Palumbo O., Mattina T., Palumbo P., Carella M., Perrotta C.S.

2013; 45(12): 1003-10

Genetic variants of membrane metallopeptidase genes in inflammatory bowel diseases.

Tavano F, Palmieri O, di Mola FF, Latiano A, Burbaci FP, Valvano MR, Corritore G, Augello B, Merla G, Annese V, Andriulli A, di Sebastiano P


2013; 26(2): 363-9

HDAC6 mediates the acetylation of TRIM50.

Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, Calcagnì A, Monti M, Cozzolino F, Pucci P, Merla G


2013; 14(1): S161

P1* A MIRNA SIGNATURE FOR DEFINING AGGRESSIVE PHENOTYPE AND PROGNOSIS IN GLIOMAS

Pasculli B., Barbano R., Palumbo O., Galasso M., Volinia S., D'Angelo V., Coco M., Dimitri L., Copetti M., Valori V.M., Maiello E., Carella M., Fazio V.M., Parrella P.

Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P280

Microdeletion of chromosome 12Q24.31 in a girl with intellectual disabilities, overgrowth and facial dysmorphisms

Palumbo O., Palumbo P., Delvecchio M., Palladino T., Stallone R., Zelante L., Carella M.

Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P279

Raro caso di sincrona insorgenza di carcinoma delle paratiroidi e delle vie biliari extraepatiche (coledoco): analisi di CNV rivela nuovi possibili geni coinvolti nella tumorigenesi delle due diverse patologie

Palumbo O., Salcuni A.S., Clemente C., Caruso N., Battista C., Di Candia L. , Bisceglia M., Maiello E., Scillitani A., Guarnieri V.

Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P276

Clinical and molecular description of a patient with a de novo 6Q16.1Q16.2 microdeletion: three candidate genes for the observed phenotype

Palumbo P., Palumbo O., Palladino T., Stallone R., Zelante L., Carella M.

Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P271

TBR1 is the candidate gene for intellectual disabilities in the 2Q24.2 interstitial deletion patients

Palumbo O., Fichera M., Palumbo P., Rizzo R., Mazzolla E., Cocuzza D.M., Carella M., Mattina T.

Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P131

Screening negativo dei geni CASR, GNA11 e AP2S1 in una coorte di pazienti affetti da ipercalcemia ipocalciurica familiare (FHH): c’è posto per un altro gene?

Guarnieri V., Palladino T., Leone M.P., Baorda F., Battista C., Salcuni A.S., D'Agruma L., Cole D.E., Hendy G.N., Scillitani A.

2013; 23(9): 1410-21

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni F, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssir


2013; 22(1): 64-70

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G


2013; 2013, 51 (5); International Congress 16-18 maggio, Lucerna: 36

Description of a further case of homozygoute variegate porphyria

Savino M, Gallo AP, Carella M, Miroballo M, Palumbo O, Garrubba M, Cappucci G, Aucella F, Di Mauro L, Guida LL

Molecular Syndromology 2013; 4(3): 152-6

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

Ratbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A


Molecular Syndromology 2013; 4(3): 143-7

A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA


2013; 587(9): 1424-8

Hepatitis delta virus induces specific DNA methylation processes in Huh-7 liver cancer cells.

Benegiamo G, Vinciguerra M, Guarnieri V, Niro GA, Andriulli A, Pazienza V


2013; 8(4): e62144

Associations between Genetic Polymorphisms in IL-33, IL1R1 and Risk for Inflammatory Bowel Disease.

Latiano A, Palmieri O, Pastorelli L, Vecchi M, Pizarro TT, Bossa F, Merla G, Augello B, Latiano T, Corritore G, Settesoldi A, Valvano MR, D'Incà R, Stronati L, Annese V, Andriulli A


2013; 1833(8): 1853-65

Interplay between SOX9, ?-catenin and PPAR? activation in colorectal cancer.

Panza A, Pazienza V, Ripoli M, Benegiamo G, Gentile A, Valvano MR, Augello B, Merla G, Prattichizzo C, Tavano F, Ranieri E, Sebastiano PD, Vinciguerra M, Andriulli A, Mazzoccoli G, Piepoli A


2013; 28(2): e208-15

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Muscarella LA, D'Agruma L, la Torre A, Gigante M, Coco M, Parrella P, Battaglia M, Carrieri G, Carella M, Leopoldo Z, Fazio VM, Loreto G, Elena R, Torre AL


2013; 2013 - suppl 1: s 278 - p667

Dissecting the role of unfolded protein response pathway in inflammatory bowel disease: in silico mRNA-miRNA co-expression analysis

Palmieri O, Bossa F, Creanza MT, Latiano T, Corritore G, Scimeca D, Biscaglia G, Liuzzi VC, Anglani R, Carella M, Annese V, Andriulli A, Latiano A

2012; 11(3): 511-23

TRIM8 modulates p53 activity to dictate cell cycle arrest.

Caratozzolo MF, Micale L, Turturo MG, Cornacchia S, Fusco C, Marzano F, Augello B, D'Erchia AM, Guerrini L, Pesole G, Sbisà E, Merla G, Tullo A


XV Congresso SIGU 2012; Sorrento 21/24 novembre 2012:

Mental retardation in a rare homozygous variegate porphyria

Savino M, Cappucci G, Carella M, Miroballo M, Palumbo O, Aucella F, Di Mauro L, Guida CC

2012; 22(6): 765-80

The EphA2 Receptor Drives Self-Renewal and Tumorigenicity in Stem-like Tumor-Propagating Cells from Human Glioblastomas.

Binda E, Visioli A, Giani F, Lamorte G, Copetti M, Pitter KL, Huse JT, Cajola L, Zanetti N, Dimeco F, De Filippis L, Mangiola A, Maira G, Anile C, De Bonis P, Reynolds BA, Pasquale EB, Vescovi AL


2012; 5(1): 1

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M


2012; ():

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.

De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y


2012; ():

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M


2012; 513(1): 209-13

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature.

Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M


2012; 55(2): 120-3

Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.

Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT


2012; 55(12): 747-52

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L


2012; 55(8-9): 466-71

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E


2012; 83(1): 83-7

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M


2012; 72(4): 550-8

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ


2012; 158A(12): 3182-9

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M


2012; ():

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Louise Izatt, Flores R, Galán E


2012; 7(12): e53030

Influence of Pentraxin 3 (PTX3) Genetic Variants on Myocardial Infarction Risk and PTX3 Plasma Levels.

Barbati E, Specchia C, Villella M, Rossi ML, Barlera S, Bottazzi B, Crociati L, d'Arienzo C, Fanelli R, Garlanda C, Gori F, Mango R, Mantovani A, Merla G, Nicolis EB, Pietri S, Presbitero P, Sudo Y, Villella A, Franzosi MG


2012; 12(): 608

Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon.

Maglietta R, Liuzzi VC, Cattaneo E, Laczko E, Piepoli A, Panza A, Carella M, Palumbo O, Staiano T, Buffoli F, Andriulli A, Marra G, Ancona N


2012; ():

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L


2012; 5(6): 692-6

Supravalvular aortic stenosis: elastin arteriopathy.

Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN


2012; 27(4): e389-94

Aberrant genes promoter methylation in neural crest-derived tumors.

la Torre A, Muscarella LA, Parrella P, Balsamo T, Bisceglia M, Valori VM, la Torre A, Barbano R, Perrella E, Poeta ML, Melchionda G, Merla G, Maiello E, Pellicano R, Fazio VM


2012; 35(6): 411-22

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V, Battista C, Muscarella LA, Bisceglia M, de Martino D, Baorda F, Maiello E, D'Agruma L, Chiodini I, Clemente C, Minisola S, Romagnoli E, Corbetta S, Viti R, Eller-Vainicher C, Spada A, Iacobellis M, Malavolta N, Carella M, Canaff L, Hendy GN,


2012; 7(10): e46642

A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish.

Micale L, Loviglio MN, Manzoni M, Fusco C, Augello B, Migliavacca E, Cotugno G, Monti E, Borsani G, Reymond A, Merla G


2012; 337(6102): 1668-72

Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA


2012; 237(10): 1123-8

The expression of leucine-rich repeat gene family members in colorectal cancer.

Piepoli A, Palmieri O, Maglietta R, Panza A, Cattaneo E, Latiano A, Laczko E, Gentile A, Carella M, Mazzoccoli G, Ancona N, Marra G, Andriulli A


2012; ():

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E


2012; 27(10): 2217-22

Bone involvement in aldosteronism.

Salcuni AS, Palmieri S, Carnevale V, Morelli V, Battista C, Guarnieri V, Guglielmi G, Desina G, Eller-Vainicher C, Beck-Peccoz P, Scillitani A, Chiodini I


2012; 107(3): 548-52

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A


2012; 107(3): 627-9

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G


2012; 49(2): 115-124

The microRNA cluster C19MC is deregulated in parathyroid tumours.

Vaira V, Elli F, Forno I, Guarnieri V, Verdelli C, Ferrero S, Scillitani A, Vicentini L, Cetani F, Mantovani G, Spada A, Bosari S, Corbetta S


2012; 7(7): e40440

The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome.

Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G


Giornale Italiano di Nefrologia 2012; 29(2): 230-7

Prevalence and control of hypertension in chronic hemodialysis patients: results of a single-centre clinical audit.

Del Giudice A, Cicchella A, Di Giorgio G, Piemontese M, Prencipe M, Fontana A, Copetti M, Pellegrini F, Aucella F


eLS.JohnWiley&Sons 2012; : 1-12

Molecular Genetics of Williams - Beuren Syndrome

Merla G, Micale L, Fusco C, Loviglio MN

2012; 6-p448: s187

Polymorphism in IL-33, IL1RL1 genes and risk of inflammatory bowel disease

Latiano A, Palmieri O, Pastorelli L, Vecchi M, Pizarro T, Bossa F, Merla G, Augello B, Valvano MR, D'Incà R, Cucchiara S, Annese V, Andriulli A,

2012; 56: s174

Hepatitis Delta Virus upregulates DNMT3B through STAT3 activation in HUH-7 cells

Benegiamo G, Vinciguerra M, Mazzoccoli G, Guarnieri V, Niro G, Andriulli A, Pazienza V

Minerva Oftalmologica 2012; 54: 39-45

Acute keratoconus in a patient with hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome)

Longo C, Penna Caroppi FP, Gagliardo F, Bisceglia L, Laborante A

2012; 13 Suppl 4(): S21

BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments.

Consiglio A, Carella M, De Caro G, Delle Foglie G, Giovannelli C, Grillo G, Ianigro M, Licciulli F, Palumbo O, Piepoli A, Ranieri E, Liuni S


2012; 66(3): 175-9

Altered expression of the clock gene machinery in kidney cancer patients.

Mazzoccoli G, Piepoli A, Carella M, Panza A, Pazienza V, Benegiamo G, Palumbo O, Ranieri E


2012; 7(3): e33663

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

Piepoli A, Tavano F, Copetti M, Mazza T, Palumbo O, Panza A, di Mola FF, Pazienza V, Mazzoccoli G, Biscaglia G, Gentile A, Mastrodonato N, Carella M, Pellegrini F, di Sebastiano P, Andriulli A


2012; 33(4): 703-9

Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.

Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E


2011; 34(7 Suppl): 23-6

Carboxyl-terminal parathyroid hormone fragments: biologic effects.

Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V


Molecular syndromology 2011; 2(1): 35-44

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A


Imprinting Control Region KCNQ1OT1 e non-coding RNA: nuove proprietà derivate dallo studio di un caso familiare 2011; SIGU: cod. 512

Imprinting Control Region KCNQ1OT1 e non-coding RNA: nuove proprietà derivate dallo studio di un caso familiare di Sindrome di Beckwith - Wiedemann

Mussa A, De Crescenzo A, Chiesa N, Perone L, Carella M, Sparago A, Cerrato F, Russo S, Cubellis MV, Cirillo Silengo M, Riccio A, Ferrero GB

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 468

La duplicazione della regione 7q11.23 regola negativamente lo sviluppo e la funzione dell'amigdala associandosi ad autismo e assenza di linguaggio

Prontera P, Serino D, Caldini B, Scarponi L, Muti M, Merla G, Pirozzi F, Chiurazzi P, Mazzotta G, Piccirilli , Donti E

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 440

Prima mutazione del gene CASR in una casistica italiana di pazienti affetti da epilessia generalizzata idiopatica

Guarnieri V, Baorda F, Germano M, D'Orsi G, Trevisano M, Specchio LM, Fabretto A, D'Agruma L, Cole DE, Hendy GN, Carella M, Zelante L

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 430

Elaborazione di un algoritmo diagnostico clinico per Sindrome Kabuki

Zucchetti F, Merla G, Zelante L, Micale L, Valsecchi MG, Bernasconi D, Selicorni A

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 176

Analisi molecolare e funziona2 in una casistica italiana di pazienti con esostosi multiple

Guarnieri V, Ciavarella M, Stanziale P, Baorda F, Procino G, Caldarini C, Facchini R, Lala R, Svelto M, Zelante L, D'Agruma L

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 170

Ruolo dei Polimorfismi funzionali nel gene CASR nella malattia di Alzheimer sporadica

Guarnieri V, Paroni G, Bizzarro A, Gravina C, Nocco A, Baorda F, Urbano M, Daniele A, Scillitani A, Logroscino G, Masullo C, Greco A

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 169

Nuove mutazioni del gene CASR in pazienti affetti da FHH, ADH e PHPT

Guarnieri V, Baorda F, Stanziale P, Battista C, Procino G, Stratta P, D'Elia AV, Damante G, Romagnoli E, Minisola S, D'Agruma L, Carella M

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 161

Due casi di sindrome da microdelezione 17q21.31

Cassisi G, Praticò E, Pitta R, Palumbo O, Ferrara A, Stallone R, Carella M, Mattina T

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 144

Un caso di sindrome da duplicazione 16p13 con falangi distali di forma conica

Di Dio L, Pavone P, Pulvirenti R, Stallone R, Palumbo O, Carella M, Mattina T

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 141

Caratterizzazione citogenetica e molecolare di un CCR

Di Giacomo MC, Ferri E, Altamura F, Piemontese MR, Bagnulo R, Zelante L, Discepoli G

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 406

Un raro caso di sindrome di Feingold familiare

Piccione M, Antona V, Carella M, Palumbo O, Palumbo P, Corsello G

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 129

Microduplicazione della regione 4p16.3: caso clinico

Di Giacomo MC, Ferri E, Riviello F, Chiacchio R, Carella M, Palumbo O, Zelante L

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 113

Analisi dei geni VSX1, LOX, TIMP3 e SOD1 in 302 soggetti affetti da cheratocono

De Bonis P, Laborante A, Pizzicoli C, Carella M, Zelante L, Bisceglia L

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 093

Thrombocytopenia-absent radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes

Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 084

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of charge syndrome

Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 083

Identification of a FOXP1 deletion in a patient with autism, developmental verbal dyspraxia (DVD) and deficit of motor cordination

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 370

ENSPM-N6_DR DNA transposons shape a repertoire of p53 target genes in zebrafish

Loviglio MN, Micale L, Fusco C, Augello B, D'Addetta EV, Merla G

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 369

Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients

Micale L, Fusco C, Augello B, Loviglio MN, D'Addetta EV, Calcagnì A, Zelante L, merla G

XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 061

Fenotitpo Silver Russell in paziente con duplicazione 11p13

Perrotta CS, Mattina T, Di Dio L, Carella M, Palumbo P, Palumbo O

2011; ():

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Munnich A


2011; 164(3): 421-7

Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism.

Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Paloschi V, Rainone F, Eller-Vainicher C, Borghi L, Nouvenne A, Guerra A, Meschi T, Allegri F, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L


XIV Congresso Nazionale della Società  Italiana di Genetica Umana 2011; :

Beat: bioinformatics exon array tool to store, analyze and visualize affymetrix gene chip human exon array data from disease experiments

A. Consiglio, M. Carella, G. De Caro, G. Delle Foglie, C. Giovannelli, G. Grillo, M. Ianigro, F. Licciulli, O. Palumbo, A. Piepoli, E. Ranieri, S. Liuni

2011; ():

A rare S33C mutation of CTNNB1 encoding ß-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.

Guarnieri V, Baorda F, Battista C, Bisceglia M, Balsamo T, Gruppioni E, Fiorentino M, Muscarella LA, Coco M, Barbano R, Corbetta S, Spada A, Cole DE, Canaff L, Hendy GN, Carella M, Scillitani A


2011; 80: 493-496

Is Hardikar syndrome distinct from Kabuki (Niikawa–Kuroki) syndrome?

I Ejarquea, V Ulianaa, F Forzano, C Marciano, G Merla, L Zelante, E Di Maria, F Faravellia


2011; :

Abstract E25 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011

Piepoli A et al.

2011; :

Abstract D39 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011

Muscarella LA et al.

2011; 28(10): 841-51

Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

Mazzoccoli G, Panza A, Valvano MR, Palumbo O, Carella M, Pazienza V, Biscaglia G, Tavano F, Di Sebastiano P, Andriulli A, Piepoli A


2011; 155A(7): 1697-705

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G


2011; ():

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB


2011; ():

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N


2011; 34(7): 23-26

Carboxyl-terminal parathyroid hormone fragments: Biologic effects

Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V

2011; 17(): 2482-94

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L


2011; :

MicroRNA and Colon-Cancer: The Circadian Clock Connection

Ada Piepoli, Anna Panza, Gianluigi Mazzoccoli, Massimiliano Copetti, Orazio Palumbo, Massimo Carella, Annamaria Gentile, Valerio Pazienza, Francesca Tavano, Nicola Mastrodonato, Giuseppe Biscaglia, Fabio Pellegrini, Pierluigi Di Sebastiano, Angelo Andriul

2011; AGA Abstracts: S-272

Dissection of the Crohn's Disease Transcriptome of 71 Loci Using Genome-Wide Microarrays

Orazio Palmieri, Anna Latiano, Rosalia Maglietta, Orazio Palumbo, Giuseppe Corritore, Tiziana Latiano, Giuseppina Martino, Massimo Carella, Nicola Ancona, Fabrizio Bossa, Angelo Andriulli, Vito Annese

2011; : S161

Whole-transcript human gene expression pathway analysis in Crohn's disease

O. Palmieri, A. Latiano, R. Maglietta, B. Fabrizio, D. Scimeca, G. Biscaglia, O. Palumbo, M. Carella, N. Ancona, A. Andriulli, V. Annese

2011; :

Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

Micale L, Augello B, Daniele G, Macchia G, L'Abbate A et al.

2011; ():

Clinical utility gene card for: Cystinuria.

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, Strologo LD, Pras E, Creemers J, Palacin M


2011; ():

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F et al.


2011; 129(3): 536-45

High RAD51 mRNA expression characterize estrogen receptor-positive/progesteron receptor-negative breast cancer and is associated with patient's outcome.

Barbano R, Copetti M, Perrone G, Pazienza V, Muscarella LA, Balsamo T, Storlazzi CT, Ripoli M, Rinaldi M, Valori VM, Latiano TP, Maiello E, Stanziale P, Carella M, Mangia A, Pellegrini F, Bisceglia M, Muda AO, Altomare V, Murgo R, Fazio VM, Parrella P


2011; 40(3): 481-5

Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.

Mastroianno S, Torlontano M, Scillitani A, D'Aloiso L, Verrienti A, Bonfitto N, De Bonis A, D'Agruma L, Muscarella LA, Guarnieri V, Dicembrino F, Maranghi M, Durante C, Filetti S


2011; 6(1): 38

Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Cirillo Silengo M, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagni A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S,


2011; 6(6):

Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer.

Muscarella LA, Parrella P, D'Alessandro V, la Torre A, Barbano R, Fontana A, Tancredi A, Guarnieri V, Balsamo T, Coco M, Copetti M, Pellegrini F, De Bonis P, Bisceglia M, Scaramuzzi G, Maiello E, Valori VM, Merla G, Vendemiale G, Fazio VM


2011; ():

Gene expression of somatostatin receptor subtypes SSTR2a, SSTR3 and SSTR5 in peripheral blood of neuroendocrine lung cancer affected patients.

Muscarella LA, D'Alessandro V, la Torre A, Copetti M, De Cata A, Parrella P, Sperandeo M, Pellegrini F, Frusciante V, Maiello E, Merla G, Fazio VM, Vendemiale G


2011; ():

Dissecting the mucosal expression of human leucine-rich repeat family genes in inflammatory bowel disease patients.

Palmieri O, Latiano A, Maglietta R, Palumbo O, Carella M, Ancona N, Bossa F, Andriulli A, Annese V


2011; ():

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, do Céu Mota M, Dias C, Rodrigues-Santos P, Fortuna A, Quelhas D, Lacerda L, Bisceglia L, Cardoso M


2011; 6(3): 317-25

Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome.

Muscarella LA, Barbano R, D'Angelo V, Copetti M, Coco M, Balsamo T, la Torre A, Notarangelo A, Troiano M, Parisi S, Icolaro N, Catapano D, Valori VM, Pellegrini F, Merla G, Carella M, Fazio VM, Parrella P


2011; 7(1): e1001054

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

Henrichsen CN, Csárdi G, Zabot MT, Fusco C, Bergmann S, Merla G, Reymond A


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