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Items: 1 to 20 of 150

1.

1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.

De Molfetta GA, Ferreira CA, Vidal DO, Giuliani Lde R, Maldonado MJ, Silva WA Jr.

BMC Med Genet. 2012 Dec 20;13:124. doi: 10.1186/1471-2350-13-124.

2.

Discordant phenotypes in first cousins with UBE3A frameshift mutation.

Molfetta GA, Muñoz MV, Santos AC, Silva WA, Wagstaff J, Pina-Neto JM.

Am J Med Genet A. 2004 Jun 15;127A(3):258-62.

PMID:
15150776
3.

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL.

Nat Genet. 1997 Jan;15(1):74-7.

PMID:
8988172
4.

UBE3A/E6-AP mutations cause Angelman syndrome.

Kishino T, Lalande M, Wagstaff J.

Nat Genet. 1997 Jan;15(1):70-3. Erratum in: Nat Genet 1997 Apr;15(4):411.

PMID:
8988171
5.

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 Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL.

Hum Mol Genet. 1999 Jan;8(1):129-35.

6.

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Hitchins MP, Rickard S, Dhalla F, Fairbrother UL, de Vries BB, Winter R, Pembrey ME, Malcolm S.

Am J Med Genet A. 2004 Mar 1;125A(2):167-72. Erratum in: Am J Med Genet A. 2005 Jun 15;135(3):346. Fairbrother, Una L [added].

PMID:
14981718
7.

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.

PMID:
9600250
8.

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.

9.

Screening of UBE3A gene in patients referred for Angelman Syndrome.

Tzagkaraki E, Sofocleous C, Fryssira-Kanioura H, Dinopoulos A, Goulielmos G, Mavrou A, Kitsiou-Tzeli S, Kanavakis E.

Eur J Paediatr Neurol. 2013 Jul;17(4):366-73. doi: 10.1016/j.ejpn.2012.12.010. Epub 2013 Feb 14. Erratum in: Eur J Paediatr Neurol. 2013 Nov;17(6):685. Helen, Fryssira-Kanioura [corrected to Fryssira-Kanioura, Helen]; Sofia, Kitsiou-Tzeli [corrected to Kitsiou-Tzeli, Sofia].

PMID:
23416059
10.

UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.

Rapakko K, Kokkonen H, Leisti J.

Am J Med Genet A. 2004 Apr 30;126A(3):248-52.

PMID:
15054837
11.

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ.

J Med Genet. 2001 Dec;38(12):834-45.

12.

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

Sutcliffe JS, Jiang YH, Galijaard RJ, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL.

Genome Res. 1997 Apr;7(4):368-77.

13.

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.

Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.

PMID:
23124039
14.

Atypical cases of Angelman syndrome.

Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V.

Am J Med Genet A. 2006 Nov 1;140(21):2361-4.

PMID:
17036311
15.

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF.

J Med Genet. 1999 Jul;36(7):554-60.

16.

Angelman syndrome: a review of the clinical and genetic aspects.

Clayton-Smith J, Laan L.

J Med Genet. 2003 Feb;40(2):87-95. Review.

17.

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

Rougeulle C, Glatt H, Lalande M.

Nat Genet. 1997 Sep;17(1):14-5. No abstract available.

PMID:
9288088
18.

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Al-Maawali A, Machado J, Fang P, Dupuis L, Faghfoury H, Mendoza-Londono R.

J Child Neurol. 2013 Mar;28(3):392-5. doi: 10.1177/0883073812443591. Epub 2012 May 7.

PMID:
22566713
19.

Mutation analysis of UBE3A in Angelman syndrome patients.

Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J.

Am J Hum Genet. 1998 Jun;62(6):1353-60.

20.

Neurological aspects of the Angelman syndrome.

Williams CA.

Brain Dev. 2005 Mar;27(2):88-94. Review.

PMID:
15668046
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