Literature DB >> 8521718

Angelman syndrome.

C A Williams1, R T Zori, J Hendrickson, H Stalker, T Marum, E Whidden, D J Driscoll.   

Abstract

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Year:  1995        PMID： 8521718     DOI： 10.1016/s0045-9380(06)80036-8

Source DB:  PubMed          Journal:  Curr Probl Pediatr        ISSN： 0045-9380


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  19 in total

Review 1.  Genetics of Angelman syndrome.

Authors:  Y Jiang; E Lev-Lehman; J Bressler; T F Tsai; A L Beaudet
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Authors:  Lynne M Bird; Wen-Hann Tan; Carlos A Bacino; Sarika U Peters; Steven A Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Jennifer K Gentile; Daniel G Glaze; Lucia T Horowitz; K Naga Mohan; Mark P Nespeca; Trilochan Sahoo; Dean Sarco; Susan E Waisbren; Arthur L Beaudet
Journal:  Am J Med Genet A       Date:  2011-10-14       Impact factor: 2.802

3.  Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction.

Authors:  Carolyn L Smith; Darryll G DeVera; Dolores J Lamb; Zafar Nawaz; Yong-Hui Jiang; Arthur L Beaudet; Bert W O'Malley
Journal:  Mol Cell Biol       Date:  2002-01       Impact factor: 4.272

4.  Mutation analysis of UBE3A in Angelman syndrome patients.

Authors:  P Malzac; H Webber; A Moncla; J M Graham; M Kukolich; C Williams; R A Pagon; L A Ramsdell; T Kishino; J Wagstaff
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

5.  Parental view of epilepsy in Angelman syndrome: a questionnaire study.

Authors:  M Ruggieri; M A McShane
Journal:  Arch Dis Child       Date:  1998-11       Impact factor: 3.791

6.  Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Authors:  P Watson; G Black; S Ramsden; M Barrow; M Super; B Kerr; J Clayton-Smith
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

Review 7.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

8.  Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb.

Authors:  Akiko Kashiwagi; Makiko Meguro; Hidetoshi Hoshiya; Masayuki Haruta; Fumitoshi Ishino; Toshiyuki Shibahara; Mitsuo Oshimura
Journal:  J Hum Genet       Date:  2003-03-12       Impact factor: 3.172

Review 9.  Imprinting disorders and assisted reproductive technology.

Authors:  Carter M Owen; James H Segars
Journal:  Semin Reprod Med       Date:  2009-08-26       Impact factor: 1.303

10.  Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

Authors:  Russell John Thompson; Patrick F Bolton
Journal:  J Autism Dev Disord       Date:  2003-04
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