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Journal Abstract Search

619 related items for PubMed ID: 32815268

  • 1. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
    Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA.
    Am J Med Genet A; 2020 Oct; 182(10):2442-2449. PubMed ID: 32815268
    [Abstract] [Full Text] [Related]

  • 2. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array.
    Morandi A, Bonnefond A, Lobbens S, Carotenuto M, Del Giudice EM, Froguel P, Maffeis C.
    Am J Med Genet A; 2015 Nov; 167A(11):2720-6. PubMed ID: 26109092
    [Abstract] [Full Text] [Related]

  • 3. Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.
    Polubothu S, Glover M, Holder SE, Kinsler VA.
    Br J Dermatol; 2018 Nov; 179(5):1214-1215. PubMed ID: 30007077
    [No Abstract] [Full Text] [Related]

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  • 5. Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome.
    Fridman C, Koiffmann CP.
    Am J Med Genet; 2000 Sep 18; 94(3):249-53. PubMed ID: 10995513
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  • 7. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
    Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z.
    PLoS One; 2016 Sep 18; 11(2):e0147824. PubMed ID: 26841067
    [Abstract] [Full Text] [Related]

  • 8. Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
    Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, von Eggeling F, Starke H.
    Eur J Med Genet; 2005 Sep 18; 48(2):175-81. PubMed ID: 16053909
    [Abstract] [Full Text] [Related]

  • 9. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
    Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ.
    J Med Genet; 2019 Mar 18; 56(3):149-153. PubMed ID: 29730598
    [Abstract] [Full Text] [Related]

  • 10. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).
    Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.
    Hum Genet; 1996 Jun 18; 97(6):784-93. PubMed ID: 8641697
    [Abstract] [Full Text] [Related]

  • 11. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
    Chotai KA, Payne SJ.
    J Med Genet; 1998 Jun 18; 35(6):472-5. PubMed ID: 9643288
    [Abstract] [Full Text] [Related]

  • 12. [Prader-Willi syndrome and genomic imprinting].
    Wang W, Wang DF, Cui YF, Ni JH, Dong ZY, Fu MF, Fu HM, Lu GQ, Chen FS.
    Zhonghua Er Ke Za Zhi; 2003 Jun 18; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

  • 13. Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.
    Buchholz T, Jackson J, Robson L, Smith A.
    Hum Genet; 1998 Nov 18; 103(5):535-9. PubMed ID: 9860294
    [Abstract] [Full Text] [Related]

  • 14. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C, Fokstuen S, Schinzel A.
    Am J Med Genet; 2000 Dec 18; 95(5):454-60. PubMed ID: 11146466
    [Abstract] [Full Text] [Related]

  • 15. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC, Driscoll DJ, Yang TP, Nicholls RD.
    Mol Hum Reprod; 1997 Apr 18; 3(4):321-32. PubMed ID: 9237260
    [Abstract] [Full Text] [Related]

  • 16. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.
    Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
    Eur J Med Genet; 2014 Apr 18; 57(6):279-83. PubMed ID: 24704109
    [Abstract] [Full Text] [Related]

  • 17. Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
    Calounova G, Novotna D, Simandlova M, Havlovicova M, Zumrová A, Kocarek E, Sedlacek Z.
    Neuro Endocrinol Lett; 2006 Oct 18; 27(5):579-85. PubMed ID: 17159828
    [Abstract] [Full Text] [Related]

  • 18. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
    Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M.
    Eur J Med Genet; 2007 Oct 18; 50(1):11-20. PubMed ID: 17095305
    [Abstract] [Full Text] [Related]

  • 19. Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.
    Wang JC, Vaccarello-Cruz M, Ross L, Owen R, Pratt VM, Lightman K, Liu Y, Hafezi K, Cherif D, Sahoo T.
    Am J Med Genet A; 2013 Jul 18; 161A(7):1695-701. PubMed ID: 23686718
    [Abstract] [Full Text] [Related]

  • 20. Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.
    Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG.
    J Med Genet; 2003 Aug 18; 40(8):568-74. PubMed ID: 12920063
    [Abstract] [Full Text] [Related]

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