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Ufficio Accettazione sanitaria e registrazione ricoveri

Ufficio Accettazione sanitaria e registrazione ricoveri

Informazioni generali e registrazione ricoveri, certificati di ricovero


Sede: Ospedale, piano terra lato ovest
Orari: lunedì-venerdì dalle 8.00 alle 20.00, sabato dalle 8.00 alle 14.00
Telefono: 0882 410 317-219

Ufficio comunicazione

Ufficio comunicazione

Telefono: 0882 835521

Fax: 0881 350065

Email: ufficiocomunicazione@operapadrepio.it

Accettazione Prestazioni Ambulatoriali

Accettazione Prestazioni Ambulatoriali

Informazioni su costi, rimborsi, esenzioni, accesso ad esami e visite specialistiche, registrazione impegnative mediche e pagamento ticket

 

Poliambulatorio "Giovanni Paolo II" - piano terra lato sud, (sportelli polifunzionali)

Telefono: 0882 416400

Orari: dal lunedì al venerdì dalle 7.00 alle 18.00, sabato dalle 7.30 alle 13.00

 

Ospedale - piano rialzato, lato ovest (sportelli polifunzionali)

Telefono: 0882 410 221-867

Orari: dal lunedì al venerdì dalle 7.30 alle 13.00, sabato dalle 7.30 alle 13.00

 

Centro Unico Prenotazioni (CUP) Ambulatoriali

Centro Unico Prenotazioni (CUP) Ambulatoriali

Informazioni sui tempi di attesa e prenotazioni di visite specialistiche ed esami diagnostici strumentali:

Centro Unico Prenotazioni (CUP) AMBULATORIALI

Telefono: 0882 416888

 

Per effettuare una richiesta di prenotazione online, clicca QUI

Centro Unico Prenotazione (CUP) Ricoveri

Centro Unico Prenotazione (CUP) Ricoveri

Poliambulatorio

Telefono: 0882 416606

 

Orari: dal lunedì al sabato dalle 8.30 alle 13.00

 

Informazioni sui tempi di attesa e prenotazioni ricoveri nei reparti di:

  • Chirurgia I Addominale,
  • Chirurgia II Toraco Polmonare,
  • Chirurgia Vascolare,
  • Gastroenterologia Medicina Generale,
  • Neurochirurgia,
  • Neurologia,
  • Oculistica,
  • Ortopedia e Traumatologia,
  • Otorinolaringoiatria,
  • Urologia
Servizio di Portineria

Servizio di Portineria

Accedere alle strutture dell’Ospedale e del Poliambulatorio “Giovanni Paolo II”, raggiungere i punti di erogazione dei servizi

Telefono Ospedale: 0882 410321
 
Telefono  Poliambulatorio: 0882 416389

Pronto Soccorso

Pronto Soccorso

Telefono: 0882 41088

Orari: tutti i giorni 24 ore su 24

Centralino

Centralino

Telefono: 0882 4101

Ufficio Relazioni con il Pubblico (URP)

Ufficio Relazioni con il Pubblico (URP)

La missione dell'Ufficio per le Relazioni con il Pubblico (URP) è assicurare all'utenza dell'ospedale l'aiuto e il supporto necessario per ogni tipo di necessità e bisogno.

Il personale dell'URP è a disposizione per:
  • fornire informazione sulle prestazioni e sui servizi sanitari;
  • garantire il diritto di essere ascoltati e di ricevere una risposta;
  • ricevere osservazioni, suggerimenti e reclami, direttamente, attraverso la compilazione di moduli già predisposti, per telefono oppure on line;
  • agevolare l'accesso e l'orientamento all'interno della struttura


Sede: Ospedale - complesso monumentale, piano rialzato lato ovest
Orari mattina: dal lunedì al sabato 8,00 - 14,00
Orari pomeriggio: lunedì e giovedì 14,30 - 17,30; martedì e mercoledì 15,00 - 18,00

Telefono: 0882 410389
Fax: 0882 410046
email: urp@operapadrepio.it

 

Sportello c/o Poliambulatorio: dal lunedì al sabato 8,00 - 14,00

Telefono: 0882 416391

Scheda reclamo

 

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Genetica Medica

css home

Telefono: 0882 416288 (segreteria)
  0882 411616
E-Mail: genetica@operapadrepio.it

Dirigente Medico Responsabile: Dr. Marco Castori

 

Merla Giuseppe

Informazioni aggiuntive

  • Cognome Nome: Merla Giuseppe
  • Dipartimento: Età Evolutiva
  • Reparto: Genetica Medica
  • Qualifica: Dirigente Biologo
  • Pubblicazioni Scientifiche: Elenco Pubblicazioni Scientifiche

    Totale pubblicazioni a partire dal 2011: 78


    Anno

    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


    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


    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


    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; ():

    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; ():

    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; ():

    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; 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; ():

    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; ():

    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; 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; 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


    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; ():

    DNA damage response defect in Williams-Beuren syndrome.

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


    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; ():

    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; ():

    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; ():

    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; ():

    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; 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.


    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; ():

    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; 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; 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; 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; (): 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; ():

    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


    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; ():

    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; 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; 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


    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(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; 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


    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; 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


    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


    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; 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; 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; 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; 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


    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; 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


    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. 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. 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

    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 D39 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011

    Muscarella LA et al.

    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; :

    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; ():

    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; 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; 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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Dirigenti Medici e Biologi

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