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2. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Saitoh S; Buiting K; Cassidy SB; Conroy JM; Driscoll DJ; Gabriel JM; Gillessen-Kaesbach G; Glenn CC; Greenswag LR; Horsthemke B; Kondo I; Kuwajima K; Niikawa N; Rogan PK; Schwartz S; Seip J; Williams CA; Nicholls RD Am J Med Genet; 1997 Jan; 68(2):195-206. PubMed ID: 9028458 [TBL] [Abstract][Full Text] [Related]
3. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Nicholls RD Am J Med Genet; 1993 Apr; 46(1):16-25. PubMed ID: 8388169 [TBL] [Abstract][Full Text] [Related]
4. Angelman syndrome caused by loss of a marker chromosome: cytogenetic and fluorescence in situ hybridization analysis. Arrieta I; Criado B; Nuñez T; Telez M; Echarri A; Martinez B; Castedo S Psychiatr Genet; 1997; 7(4):153-8. PubMed ID: 9460799 [TBL] [Abstract][Full Text] [Related]
5. The critical region for Angelman syndrome lies between D15S122 and D15S113. Greger V; Reis A; Lalande M Am J Med Genet; 1994 Dec; 53(4):396-8. PubMed ID: 7864058 [No Abstract] [Full Text] [Related]
6. Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. Tsai TF; Raas-Rothschild A; Ben-Neriah Z; Beaudet AL Am J Hum Genet; 1998 Nov; 63(5):1561-3. PubMed ID: 9792887 [No Abstract] [Full Text] [Related]
7. Angelman syndrome: a review of clinical and genetic aspects. Laan LA; v Haeringen A; Brouwer OF Clin Neurol Neurosurg; 1999 Sep; 101(3):161-70. PubMed ID: 10536901 [TBL] [Abstract][Full Text] [Related]
8. A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. Ramsden S; Gaunt L; Seres-Santamaria A; Clayton-Smith J Acta Genet Med Gemellol (Roma); 1996; 45(1-2):255-61. PubMed ID: 8872042 [TBL] [Abstract][Full Text] [Related]
9. Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Smith A; Deng ZM; Beran R; Woodage T; Trent RJ Hum Genet; 1994 Apr; 93(4):471-3. PubMed ID: 8168819 [TBL] [Abstract][Full Text] [Related]
10. Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome. Nicholls RD Hum Mol Genet; 1994 Jan; 3(1):9-11. PubMed ID: 8162058 [No Abstract] [Full Text] [Related]
11. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Bürger J; Kunze J; Sperling K; Reis A Am J Med Genet; 1996 Dec; 66(2):221-6. PubMed ID: 8958335 [TBL] [Abstract][Full Text] [Related]
12. Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. Webb T; Clayton-Smith J; Cheng XJ; Knoll JH; Lalande M; Pembrey ME; Malcolm S J Med Genet; 1992 Dec; 29(12):921-4. PubMed ID: 1362225 [TBL] [Abstract][Full Text] [Related]
13. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Mutirangura A; Kuwano A; Ledbetter SA; Chinault AC; Ledbetter DH Hum Mol Genet; 1992 May; 1(2):139. PubMed ID: 1301155 [No Abstract] [Full Text] [Related]
14. Genetic testing for Prader-Willi and Angelman syndromes. Schad CR; Jalal SM; Thibodeau SN Mayo Clin Proc; 1995 Dec; 70(12):1195-6. PubMed ID: 7490922 [No Abstract] [Full Text] [Related]
15. Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation. Saitoh S; Wada T; Kuno T; Kim KC; Ohashi H; Hashimoto K; Niikawa N Clin Genet; 1999 Apr; 55(4):277-8. PubMed ID: 10361990 [No Abstract] [Full Text] [Related]
16. Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship. Harpey JP; Heron D; Prudent M; Lesourd S; Henry I; Royer-Legrain G; Munnich A; Bonnefont JP Am J Med Genet; 1998 Feb; 76(1):103-4. PubMed ID: 9508076 [No Abstract] [Full Text] [Related]
17. Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Mutirangura A; Ledbetter SA; Kuwano A; Chinault AC; Ledbetter DH Hum Mol Genet; 1992 Apr; 1(1):67. PubMed ID: 1338690 [No Abstract] [Full Text] [Related]
18. Report of the first international workshop on human chromosome 15 mapping. Donlon TA Cytogenet Cell Genet; 1992; 61(3):162-6. PubMed ID: 1424801 [No Abstract] [Full Text] [Related]
19. Cytogenetic and molecular analysis in Angelman syndrome. Zackowski JL; Nicholls RD; Gray BA; Bent-Williams A; Gottlieb W; Harris PJ; Waters MF; Driscoll DJ; Zori RT; Williams CA Am J Med Genet; 1993 Apr; 46(1):7-11. PubMed ID: 8098583 [TBL] [Abstract][Full Text] [Related]
20. Angelman Syndrome Due to UBE3A Gene Mutation. Goswami JN; Sahu JK; Singhi P Indian J Pediatr; 2018 May; 85(5):390-391. PubMed ID: 29250725 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]