Literature DB >> 19011813

Triple A syndrome.

Sunil K Menon, Tushar R Bangar, Amir Kaba, Rakesh Shah, Padma S Menon, Nalini S Shah.   

Abstract

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Year:  2008        PMID： 19011813     DOI： 10.1007/s12098-008-0202-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Authors:  K Handschug; S Sperling; S J Yoon; S Hennig; A J Clark; A Huebner
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

2.  Triple-a syndrome: a rare etiology of adult achalasia.

Authors:  Sabine Roman; Marc Nicolino; François Mion; Anna Tullio-Pelet; Denis Péré-Vergé; Jean-Christophe Souquet
Journal:  Dig Dis Sci       Date:  2005-03       Impact factor: 3.199

3.  Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

Authors:  B P Brooks; R Kleta; C Stuart; M Tuchman; A Jeong; S G Stergiopoulos; T Bei; B Bjornson; L Russell; J-P Chanoine; S Tsagarakis; Lr Kalsner; Ca Stratakis
Journal:  Clin Genet       Date:  2005-09       Impact factor: 4.438

4.  A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Authors:  Tina Dusek; Marta Korsic; Katrin Koehler; Zdravko Perkovic; Angela Huebner; Mirko Korsic
Journal:  Horm Res       Date:  2006-03-15

5.  Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Authors:  Brian P Brooks; Robert Kleta; Rafael C Caruso; Caroline Stuart; Jonathan Ludlow; Constantine A Stratakis
Journal:  BMC Ophthalmol       Date:  2004-06-24       Impact factor: 2.209
  5 in total

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