Literature DB >> 12212552

Familial glucocorticoid deficiency syndromes.

Frederich C Luft1.   

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Year:  2002        PMID： 12212552     DOI： 10.1007/s00109-002-0347-1

Source DB:  PubMed          Journal:  J Mol Med (Berl)        ISSN： 0946-2716            Impact factor:   4.599


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  10 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.  Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

Authors:  C Goizet; B Catargi; F Tison; A Tullio-Pelet; S Hadj-Rabia; F Pujol; A Lagueny; S Lyonnet; D Lacombe
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

3.  ALADIN, but where's the genie?

Authors:  Richard W Orrell; Adrian J L Clark
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

4.  Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism.

Authors:  T H SHEPARD; B H LANDING; D G MASON
Journal:  AMA J Dis Child       Date:  1959-02

Review 5.  Adrenocorticotropin insensitivity syndromes.

Authors:  A J Clark; A Weber
Journal:  Endocr Rev       Date:  1998-12       Impact factor: 19.871

Review 6.  Familial glucocorticoid deficiency: one syndrome, but more than one gene.

Authors:  A J Clark; F M Cammas; A Watt; S Kapas; A Weber
Journal:  J Mol Med (Berl)       Date:  1997-06       Impact factor: 4.599

7.  Mutant WD-repeat protein in triple-A syndrome.

Authors:  A Tullio-Pelet; R Salomon; S Hadj-Rabia; C Mugnier; M H de Laet; B Chaouachi; F Bakiri; P Brottier; L Cattolico; C Penet; M Bégeot; D Naville; M Nicolino; J L Chaussain; J Weissenbach; A Munnich; S Lyonnet
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

8.  Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

Authors:  F Sandrini; C Farmakidis; L S Kirschner; S M Wu; A Tullio-Pelet; S Lyonnet; D L Metzger; C J Bourdony; D Tiosano; W Y Chan; C A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2001-11       Impact factor: 5.958

9.  Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.

Authors:  A Penhoat; D Naville; H El Mourabit; A Buronfosse; M Berberoglu; G Ocal; C Tsigos; P Durand; M Bégeot
Journal:  J Mol Med (Berl)       Date:  2002-04-11       Impact factor: 4.599

10.  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

Authors:  J Allgrove; G S Clayden; D B Grant; J C Macaulay
Journal:  Lancet       Date:  1978-06-17       Impact factor: 79.321
  10 in total
  1 in total

1.  Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.

Authors:  Yasuko Fujisawa; Eleonora Napoli; Sarah Wong; Gyu Song; Rie Yamaguchi; Toshiharu Matsui; Keisuke Nagasaki; Tsutomu Ogata; Cecilia Giulivi
Journal:  BBA Clin       Date:  2015-06-01
  1 in total

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