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Journal Abstract Search

508 related items for PubMed ID: 9401540

  • 1. The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.
    Brøndum-Nielsen K.
    Acta Paediatr Suppl; 1997 Nov; 423():55-7. PubMed ID: 9401540
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  • 2. [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; 41(6):453-6. PubMed ID: 14749005
    [Abstract] [Full Text] [Related]

  • 3. 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; 3(4):321-32. PubMed ID: 9237260
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  • 5. Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?
    Smith A.
    Acta Genet Med Gemellol (Roma); 1996 Apr; 45(1-2):179-89. PubMed ID: 8872029
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  • 9. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
    Bittel DC, Kibiryeva N, Butler MG.
    Pediatrics; 2006 Oct; 118(4):e1276-83. PubMed ID: 16982806
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  • 10. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
    Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S.
    Am J Hum Genet; 1997 Aug; 61(2):388-94. PubMed ID: 9311744
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  • 11. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W.
    Hum Mol Genet; 1997 Mar; 6(3):387-95. PubMed ID: 9147641
    [Abstract] [Full Text] [Related]

  • 12. Prader-Willi syndrome: reflections on seminal studies and future therapies.
    Chung MS, Langouët M, Chamberlain SJ, Carmichael GG.
    Open Biol; 2020 Sep; 10(9):200195. PubMed ID: 32961075
    [Abstract] [Full Text] [Related]

  • 13. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
    Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD.
    Proc Natl Acad Sci U S A; 1996 Jul 23; 93(15):7811-5. PubMed ID: 8755558
    [Abstract] [Full Text] [Related]

  • 14. Prader-Willi syndrome and Angelman syndrome.
    Buiting K.
    Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):365-76. PubMed ID: 20803659
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  • 15. 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 Aug 15; 57(6):279-83. PubMed ID: 24704109
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  • 16. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.
    Lee S, Wevrick R.
    Am J Hum Genet; 2000 Mar 15; 66(3):848-58. PubMed ID: 10712201
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  • 17. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.
    Cassidy SB, Schwartz S.
    Medicine (Baltimore); 1998 Mar 15; 77(2):140-51. PubMed ID: 9556704
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  • 18. 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 15; 182(10):2442-2449. PubMed ID: 32815268
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 27(5):579-85. PubMed ID: 17159828
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  • 20. Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).
    Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK.
    Am J Med Genet; 1998 Jun 30; 78(2):134-9. PubMed ID: 9674903
    [Abstract] [Full Text] [Related]

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