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4. 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; 97(6):784-93. PubMed ID: 8641697 [Abstract] [Full Text] [Related]
6. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. Chotai KA, Payne SJ. J Med Genet; 1998 Jun; 35(6):472-5. PubMed ID: 9643288 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. Ishikawa T, Kibe T, Wada Y. Am J Med Genet; 1996 Apr 24; 62(4):350-2. PubMed ID: 8723064 [Abstract] [Full Text] [Related]
16. Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes. Jauch A, Robson L, Smith A. Hum Genet; 1995 Sep 24; 96(3):345-9. PubMed ID: 7649555 [Abstract] [Full Text] [Related]
18. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. Hum Mol Genet; 1993 Feb 24; 2(2):143-51. PubMed ID: 8499903 [Abstract] [Full Text] [Related]
20. [The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome]. Iourov IY, Vorsanova SG, Kurinnaaya OS, Kolotii AD, Demidova IA, Kravets VS, Yurov YB. Zh Nevrol Psikhiatr Im S S Korsakova; 2014 Feb 24; 114(1):49-53. PubMed ID: 24637817 [Abstract] [Full Text] [Related] Page: [Next] [New Search]