165 related articles for article (PubMed ID: 16740422)
1. Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.
Boyes L; Wallace AJ; Krajewska-Walasek M; Chrzanowska KH; Clayton-Smith J; Ramsden S
Eur J Med Genet; 2006; 49(6):472-80. PubMed ID: 16740422
[TBL] [Abstract][Full Text] [Related]
2. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.
Bürger J; Horn D; Tönnies H; Neitzel H; Reis A
Am J Med Genet; 2002 Aug; 111(3):233-7. PubMed ID: 12210318
[TBL] [Abstract][Full Text] [Related]
3. The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P; Lev-Lehman E; Tsai TF; Matsuura T; Benton CS; Sutcliffe JS; Christian SL; Kubota T; Halley DJ; Meijers-Heijboer H; Langlois S; Graham JM; Beuten J; Willems PJ; Ledbetter DH; Beaudet AL
Hum Mol Genet; 1999 Jan; 8(1):129-35. PubMed ID: 9887341
[TBL] [Abstract][Full Text] [Related]
4. Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Cali F; Ragalmuto A; Chiavetta V; Calabrese G; Fichera M; Vinci M; Ruggeri G; Schinocca P; Sturnio M; Romano S; Romano V; Elia M
Exp Mol Med; 2010 Dec; 42(12):842-8. PubMed ID: 21072004
[TBL] [Abstract][Full Text] [Related]
5. Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Aguilera C; Viñas-Jornet M; Baena N; Gabau E; Fernández C; Capdevila N; Cirkovic S; Sarajlija A; Miskovic M; Radivojevic D; Ruiz A; Guitart M
BMC Med Genet; 2017 Nov; 18(1):137. PubMed ID: 29162042
[TBL] [Abstract][Full Text] [Related]
6. Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.
Beleza-Meireles A; Cerqueira R; Sousa SB; Palmeiro A; Ramos L
Eur J Med Genet; 2011; 54(3):348-50. PubMed ID: 21397058
[TBL] [Abstract][Full Text] [Related]
7. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
Kuroda Y; Ohashi I; Saito T; Nagai J; Ida K; Naruto T; Wada T; Kurosawa K
Am J Med Genet A; 2014 Nov; 164A(11):2873-8. PubMed ID: 25099823
[TBL] [Abstract][Full Text] [Related]
8. Mutation Update for UBE3A variants in Angelman syndrome.
Sadikovic B; Fernandes P; Zhang VW; Ward PA; Miloslavskaya I; Rhead W; Rosenbaum R; Gin R; Roa B; Fang P
Hum Mutat; 2014 Dec; 35(12):1407-17. PubMed ID: 25212744
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome.
Bai JL; Qu YJ; Zou LP; Yang XY; Liu LJ; Song F
Chin Med J (Engl); 2011 Jan; 124(1):84-8. PubMed ID: 21362313
[TBL] [Abstract][Full Text] [Related]
10. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
Ververi A; Islam L; Bewes B; Busby L; Sullivan C; Canham N
Cytogenet Genome Res; 2017; 152(3):132-136. PubMed ID: 28898887
[TBL] [Abstract][Full Text] [Related]
11. Denaturing high-performance liquid chromatography for the detection of mutations and polymorphisms in UBE3A.
Bercovich D; Beaudet AL
Genet Test; 2003; 7(3):189-94. PubMed ID: 14641994
[TBL] [Abstract][Full Text] [Related]
12. Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene.
Girardet A; Moncla A; Hamamah S; Claustres M
Reprod Biomed Online; 2005 Apr; 10(4):519-26. PubMed ID: 15901461
[TBL] [Abstract][Full Text] [Related]
13. A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
Abaied L; Trabelsi M; Chaabouni M; Kharrat M; Kraoua L; M'rad R; Tebib N; Maazoul F; Chaabouni H
Am J Med Genet A; 2010 Jan; 152A(1):141-6. PubMed ID: 20034088
[TBL] [Abstract][Full Text] [Related]
14. UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients.
Fung DC; Yu B; Cheong KF; Smith A; Trent RJ
Hum Genet; 1998 Apr; 102(4):487-92. PubMed ID: 9600250
[TBL] [Abstract][Full Text] [Related]
15. Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
Piard J; Depienne C; Keren B; Fédirko E; Trouillard O; Charles P; Heron D
Am J Med Genet A; 2011 Dec; 155A(12):3170-3. PubMed ID: 22065487
[No Abstract] [Full Text] [Related]
16. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A; Bossuyt SNV; den Besten I; Bruggenwirth H; van der Burgt I; Yntema HG; Punt AM; Brooks A; Elgersma Y; Distel B; Valstar M
Mol Genet Genomic Med; 2020 Nov; 8(11):e1481. PubMed ID: 32889787
[TBL] [Abstract][Full Text] [Related]
17. Molecular and clinical characterization of Angelman syndrome in Chinese patients.
Bai JL; Qu YJ; Jin YW; Wang H; Yang YL; Jiang YW; Yang XY; Zou LP; Song F
Clin Genet; 2014 Mar; 85(3):273-7. PubMed ID: 23551092
[TBL] [Abstract][Full Text] [Related]
18. Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.
Camprubí C; Guitart M; Gabau E; Coll MD; Villatoro S; Oltra S; Roselló M; Ferrer I; Monfort S; Orellana C; Martínez F
Am J Med Genet A; 2009 Mar; 149A(3):343-8. PubMed ID: 19213023
[TBL] [Abstract][Full Text] [Related]
19. Atypical cases of Angelman syndrome.
Lawson-Yuen A; Wu BL; Lip V; Sahoo T; Kimonis V
Am J Med Genet A; 2006 Nov; 140(21):2361-4. PubMed ID: 17036311
[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]
