Palladino Teresa

Biologia molecolare, sviluppo di nuovi protocolli diagnostici.

 

Informazioni aggiuntive

  • Pubblicazioni Scientifiche:

    Totale pubblicazioni a partire dal 2011: 20


    Anno

    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; 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


    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


    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


    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; 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


    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


    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; ():

    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


    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; : 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; : 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.

    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; ():

    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; 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; 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


    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

    {accordionfaq faqid=accordion3 faqclass="lightnessfaq defaulticon headerbackground headerborder contentbackground contentborder round5" active=0}

nuovo-css

webcamlive

Newsletter

Informativa Newsletter
  twitter   facebook   youtube   g plus