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Items: 1 to 20 of 68

1.

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

Vu TH, Hoffman AR.

Nat Genet. 1997 Sep;17(1):12-3. No abstract available.

PMID:
9288087
2.

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
3.

Angelman syndrome: how many genes to remain silent?

Rougeulle C, Lalande M.

Neurogenetics. 1998 Aug;1(4):229-37. Review.

PMID:
10732796
4.

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.

PMID:
9887341
5.

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
6.

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL.

Nat Genet. 1997 Sep;17(1):75-8.

PMID:
9288101
7.

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
8.

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.

9.

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript.

Rougeulle C, Cardoso C, Font├ęs M, Colleaux L, Lalande M.

Nat Genet. 1998 May;19(1):15-6. No abstract available.

PMID:
9590281
10.

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.

Herzing LB, Kim SJ, Cook EH Jr, Ledbetter DH.

Am J Hum Genet. 2001 Jun;68(6):1501-5. Epub 2001 May 11.

11.

Imprinting in Angelman and Prader-Willi syndromes.

Jiang Y, Tsai TF, Bressler J, Beaudet AL.

Curr Opin Genet Dev. 1998 Jun;8(3):334-42. Review.

PMID:
9691003
12.

Imprinting in Prader-Willi and Angelman syndromes.

Nicholls RD, Saitoh S, Horsthemke B.

Trends Genet. 1998 May;14(5):194-200. Review.

PMID:
9613204
13.

[Etiology of Angelman syndrome--new views on the mechanism of genomic imprinting].

Borg K, Szpecht-Potocka A.

Postepy Biochem. 2001;47(1):98-104. Review. Polish. No abstract available.

PMID:
11503445
14.

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

Mabb AM, Judson MC, Zylka MJ, Philpot BD.

Trends Neurosci. 2011 Jun;34(6):293-303. doi: 10.1016/j.tins.2011.04.001. Epub 2011 May 17. Review.

15.

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.

16.

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. No abstract available.

PMID:
10361990
17.

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS.

Genomics. 2001 Sep;77(1-2):105-13.

PMID:
11543639
18.

Genetic counseling in Angelman syndrome: gonadal mosaicism.

Stalker HJ, Williams CA, Wagstaff J.

Am J Med Genet. 1998 Aug 6;78(5):482. No abstract available.

PMID:
9714017
19.
20.

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

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