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2. 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 [TBL] [Abstract][Full Text] [Related]
3. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome. Burrage LC; Person RE; Flores A; Villanos MT; Bi W; Wiszniewska J; Bacino CA Am J Med Genet A; 2012 Oct; 158A(10):2557-63. PubMed ID: 22903639 [TBL] [Abstract][Full Text] [Related]
4. 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 [TBL] [Abstract][Full Text] [Related]
5. 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 [TBL] [Abstract][Full Text] [Related]
6. Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. Hartin SN; Hossain WA; Weisensel N; Butler MG Am J Med Genet A; 2018 Apr; 176(4):886-895. PubMed ID: 29437285 [TBL] [Abstract][Full Text] [Related]
7. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes. Borelina D; Engel N; Esperante S; Ferreiro V; Ferrer M; Torrado M; Goldschmidt E; Francipane L; Szijan I J Biochem Mol Biol; 2004 Sep; 37(5):522-6. PubMed ID: 15479613 [TBL] [Abstract][Full Text] [Related]
8. 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; 27(5):579-85. PubMed ID: 17159828 [TBL] [Abstract][Full Text] [Related]
9. 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; 11(2):e0147824. PubMed ID: 26841067 [TBL] [Abstract][Full Text] [Related]
10. 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; 40(8):568-74. PubMed ID: 12920063 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
12. 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; 57(6):279-83. PubMed ID: 24704109 [TBL] [Abstract][Full Text] [Related]
13. A molecular and cytogenetic study in Finnish Prader-Willi patients. Kokkonen H; Kähkönen M; Leisti J Hum Genet; 1995 May; 95(5):568-71. PubMed ID: 7759080 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
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16. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect. Schulze A; Hansen C; Baekgaard P; Blichfeldt S; Petersen MB; Tommerup N; Brøndum-Nielsen K Acta Paediatr; 1997 Aug; 86(8):906-10. PubMed ID: 9307178 [TBL] [Abstract][Full Text] [Related]
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19. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Whittington JE; Butler JV; Holland AJ Eur J Hum Genet; 2007 Jan; 15(1):127-30. PubMed ID: 16957680 [TBL] [Abstract][Full Text] [Related]
20. 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 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]