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Items: 1 to 20 of 87

1.

Angelman syndrome.

Kyllerman M.

Handb Clin Neurol. 2013;111:287-90. doi: 10.1016/B978-0-444-52891-9.00032-4. Review.

PMID:
23622177
2.

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Guerrini R, Carrozzo R, Rinaldi R, Bonanni P.

Paediatr Drugs. 2003;5(10):647-61. Review.

PMID:
14510623
3.

Parental imprinting and Angelman syndrome.

Lalande M, Minassian BA, DeLorey TM, Olsen RW.

Adv Neurol. 1999;79:421-9. Review.

PMID:
10514831
4.

Clinical and genetic aspects of Angelman syndrome.

Williams CA, Driscoll DJ, Dagli AI.

Genet Med. 2010 Jul;12(7):385-95. doi: 10.1097/GIM.0b013e3181def138. Review.

PMID:
20445456
5.

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A.

J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16.

PMID:
18487518
6.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.

Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T.

Am J Med Genet A. 2017 Mar;173(3):753-757. doi: 10.1002/ajmg.a.38072.

PMID:
28211971
7.

Neurologic manifestations of Angelman syndrome.

Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA.

Pediatr Neurol. 2013 Apr;48(4):271-9. doi: 10.1016/j.pediatrneurol.2012.09.015. Review.

PMID:
23498559
8.

Epilepsy in patients with Angelman syndrome.

Fiumara A, Pittalà A, Cocuzza M, Sorge G.

Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Review.

9.

Angelman syndrome: correlations between epilepsy phenotypes and genotypes.

Minassian BA, DeLorey TM, Olsen RW, Philippart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV.

Ann Neurol. 1998 Apr;43(4):485-93.

PMID:
9546330
10.

Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.

Galván-Manso M, Campistol J, Conill J, Sanmartí FX.

Epileptic Disord. 2005 Mar;7(1):19-25.

11.

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.

12.

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.

13.

[Clinical manifestation and EEG characteristics of Angelman syndrome].

Yang XY, Zou LP, Song F, Zhang LP, Zheng H, Wu HS, Xiao J.

Zhonghua Er Ke Za Zhi. 2010 Oct;48(10):783-6. Chinese.

PMID:
21176491
14.

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. Review.

PMID:
10536901
15.

[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].

Galván-Manso M, Campistol J, Monros E, Póo P, Vernet AM, Pineda M, Sans A, Colomer J, Conill JJ, Sanmartí FX.

Rev Neurol. 2002 Sep 1-15;35(5):425-9. Spanish.

16.

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
17.

Angelman Syndrome.

Dagli AI, Mueller J, Williams CA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Sep 15 [updated 2015 May 14].

18.

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B, Thun-Hohenstein L, Schinzel A.

Am J Med Genet. 1994 May 15;51(1):35-40.

PMID:
8030667
19.

Angelman syndrome (AS, MIM 105830).

Van Buggenhout G, Fryns JP.

Eur J Hum Genet. 2009 Nov;17(11):1367-73. doi: 10.1038/ejhg.2009.67. Epub 2009 May 20. Review.

20.

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].

Bai JL, Song F, Zou LP, Yang XY, Qu YJ, Wang LW, Yang YL, Jin YW, Wang H.

Zhonghua Er Ke Za Zhi. 2010 Dec;48(12):939-43. Chinese.

PMID:
21215190

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