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Journal Abstract Search

204 related items for PubMed ID: 22378287

  • 1. 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
    Gana S, Veggiotti P, Sciacca G, Fedeli C, Bersano A, Micieli G, Maghnie M, Ciccone R, Rossi E, Plunkett K, Bi W, Sutton VR, Zuffardi O.
    Eur J Hum Genet; 2012 Aug; 20(8):852-6. PubMed ID: 22378287
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  • 2. Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
    Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.
    Am J Med Genet A; 2014 Jan; 164A(1):62-9. PubMed ID: 24243649
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  • 3. Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.
    Melo JB, Estevinho A, Saraiva J, Ramos L, Carreira IM.
    Mol Cytogenet; 2015 Jan; 8():21. PubMed ID: 25883683
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  • 4. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
    Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.
    J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
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  • 7. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
    Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T.
    Am J Med Genet A; 2013 Jun; 161A(6):1465-9. PubMed ID: 23637096
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  • 9. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
    Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
    Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
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  • 10. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
    Mackenroth L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.
    Am J Med Genet A; 2016 Sep; 170(9):2394-9. PubMed ID: 27255444
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  • 11. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
    Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, Gerundino F, Magi A, Benelli M, Torricelli F.
    Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
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  • 14. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
    Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.
    Hum Genet; 2012 Jan; 131(1):145-56. PubMed ID: 21800092
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  • 15. Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
    Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.
    Am J Med Genet A; 2012 Feb; 158A(2):412-6. PubMed ID: 22140075
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  • 16. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
    Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR.
    Am J Med Genet A; 2008 Aug 01; 146A(15):1903-10. PubMed ID: 18627067
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  • 17. 19q13 microdeletion syndrome: Further refining the critical region.
    Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F.
    Eur J Med Genet; 2012 Jun 01; 55(6-7):429-32. PubMed ID: 22510526
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  • 18. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
    Niclass T, Le Guyader G, Beneteau C, Joubert M, Pizzuti A, Giuffrida MG, Bernardini L, Gilbert-Dussardier B, Bilan F, Egloff M.
    Am J Med Genet A; 2020 Sep 01; 182(9):2133-2138. PubMed ID: 32633079
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  • 19. Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
    Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.
    Am J Med Genet A; 2012 Jun 01; 158A(6):1395-9. PubMed ID: 22585544
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  • 20. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
    Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappalà A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G.
    Am J Med Genet; 2000 Sep 18; 94(3):254-61. PubMed ID: 10995514
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