Literature DB >> 10364509

Genetics of Angelman syndrome.

Y Jiang1, E Lev-Lehman, J Bressler, T F Tsai, A L Beaudet.   

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Year:  1999        PMID： 10364509      PMCID： PMC1378067          DOI： 10.1086/302473

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  33 in total

1.  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

2.  The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a18H mice.

Authors:  W L Perry; C M Hustad; D A Swing; T N O'Sullivan; N A Jenkins; N G Copeland
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

Review 3.  A million dollar question: does LTP = memory?

Authors:  C F Stevens
Journal:  Neuron       Date:  1998-01       Impact factor: 17.173

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

Authors:  C Rougeulle; C Cardoso; M Fontés; L Colleaux; M Lalande
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

Review 5.  Parental imprinting and human disease.

Authors:  M Lalande
Journal:  Annu Rev Genet       Date:  1996       Impact factor: 16.830

6.  A candidate model for Angelman syndrome in the mouse.

Authors:  B M Cattanach; J A Barr; C V Beechey; J Martin; J Noebels; J Jones
Journal:  Mamm Genome       Date:  1997-07       Impact factor: 2.957

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

Authors:  U Albrecht; J S Sutcliffe; B M Cattanach; C V Beechey; D Armstrong; G Eichele; A L Beaudet
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

8.  Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

Authors:  C J Cummings; M A Mancini; B Antalffy; D B DeFranco; H T Orr; H Y Zoghbi
Journal:  Nat Genet       Date:  1998-06       Impact factor: 38.330

Review 9.  Imprinting in Prader-Willi and Angelman syndromes.

Authors:  R D Nicholls; S Saitoh; B Horsthemke
Journal:  Trends Genet       Date:  1998-05       Impact factor: 11.639

10.  Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Authors:  K Buiting; B Dittrich; S Gross; C Lich; C Färber; T Buchholz; E Smith; A Reis; J Bürger; M M Nöthen; U Barth-Witte; B Janssen; D Abeliovich; I Lerer; A M van den Ouweland; D J Halley; C Schrander-Stumpel; H Smeets; P Meinecke; S Malcolm; A Gardner; M Lalande; R D Nicholls; K Friend; A Schulze; G Matthijs; H Kokkonen; P Hilbert; L Van Maldergem; G Glover; P Carbonell; P Willems; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
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  42 in total

1.  Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.

Authors:  J M Greally; T A Gray; J M Gabriel; L Song; S Zemel; R D Nicholls
Journal:  Proc Natl Acad Sci U S A       Date:  1999-12-07       Impact factor: 11.205

Review 2.  The impact of genomic imprinting for neurobehavioral and developmental disorders.

Authors:  R D Nicholls
Journal:  J Clin Invest       Date:  2000-02       Impact factor: 14.808

3.  Genomic imprinting as a cause of disease.

Authors:  Jill Clayton-Smith
Journal:  BMJ       Date:  2003-11-15

4.  Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

Authors:  Francesco Cali; Alda Ragalmuto; Valeria Chiavetta; Giuseppe Calabrese; Marco Fichera; Mirella Vinci; Giuseppa Ruggeri; Pietro Schinocca; Maurizio Sturnio; Salvatore Romano; Valentino Romano; Maurizio Elia
Journal:  Exp Mol Med       Date:  2010-12-31       Impact factor: 8.718

5.  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

6.  Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.

Authors:  Douglas C Bittel; Nataliya Kibiryeva; Zohreh Talebizadeh; Daniel J Driscoll; Merlin G Butler
Journal:  Genomics       Date:  2005-01       Impact factor: 5.736

Review 7.  From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

Authors:  Beverly S Emanuel; Sulagna C Saitta
Journal:  Nat Rev Genet       Date:  2007-11       Impact factor: 53.242

Review 8.  Angelman syndrome (AS, MIM 105830).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2009-05-20       Impact factor: 4.246

9.  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

Review 10.  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
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