Literature DB >> 8093396

Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene.

A Reis, J Kunze, L Ladanyi, H Enders, U Klein-Vogler, G Niemann.   

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Year:  1993        PMID： 8093396     DOI： 10.1016/0140-6736(93)92606-t

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  8 in total

1.  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

2.  DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

Authors:  A M van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; F J Los; J O Van Hemel; R C Hennekam; H J Meijers-Heijboer; M F Niermeijer; D J Halley
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

3.  Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Authors:  A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

4.  Linkage analysis in familial Angelman syndrome.

Authors:  J Wagstaff; Y Y Shugart; M Lalande
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.

Authors:  C T Culiat; L Stubbs; R D Nicholls; C S Montgomery; L B Russell; D K Johnson; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1993-06-01       Impact factor: 11.205

6.  High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients.

Authors:  D Sinnett; J Wagstaff; K Glatt; E Woolf; E J Kirkness; M Lalande
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

7.  Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice.

Authors:  C T Culiat; L J Stubbs; C S Montgomery; L B Russell; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-29       Impact factor: 11.205

8.  A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.

Authors:  T Webb; D Clarke; C A Hardy; M W Kilpatrick; J Corbett; M Dahlitz
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
  8 in total

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