Literature DB >> 17993777

Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.

L Di Pasquale, S Indovina, M Wasniewska, S Mirabelli, P Porcelli, I Rulli, G Salzano, F De Luca.   

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Year:  2007        PMID： 17993777     DOI： 10.1007/BF03350823

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  9 in total

1.  CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

Authors:  A Balsamo; E Cacciari; L Baldazzi; L Tartaglia; A Cassio; V Mantovani; S Piazzi; A Cicognani; P Pirazzoli; B Mainetti; F Zappulla
Journal:  Clin Endocrinol (Oxf)       Date:  2000-07       Impact factor: 3.478

2.  An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.

Authors:  S Lajic; A Wedell
Journal:  Hum Genet       Date:  1996-08       Impact factor: 4.132

3.  Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.

Authors:  M Barbaro; L Baldazzi; A Balsamo; S Lajic; T Robins; L Barp; P Pirazzoli; E Cacciari; A Cicognani; A Wedell
Journal:  J Mol Med (Berl)       Date:  2006-03-16       Impact factor: 4.599

4.  Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).

Authors:  G Di Pasquale; M Wasniewska; M Caruso; G Salzano; M Coco; F Lombardo; F De Luca
Journal:  J Endocrinol Invest       Date:  2005-12       Impact factor: 4.256

5.  Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.

Authors:  D J Day; P W Speiser; E Schulze; M Bettendorf; J Fitness; F Barany; P C White
Journal:  Hum Mol Genet       Date:  1996-12       Impact factor: 6.150

Review 6.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  P C White; P W Speiser
Journal:  Endocr Rev       Date:  2000-06       Impact factor: 19.871

7.  Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.

Authors:  A Wedell; A Thilén; E M Ritzén; B Stengler; H Luthman
Journal:  J Clin Endocrinol Metab       Date:  1994-05       Impact factor: 5.958

8.  Structure of human steroid 21-hydroxylase genes.

Authors:  P C White; M I New; B Dupont
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

9.  Birth length and weight in congenital adrenal hyperplasia according to the different phenotypes.

Authors:  Antonio Balsamo; Malgorzata Wasniewska; Giuseppe Di Pasquale; Giuseppina Salzano; Federico Baronio; Sara Bombaci; Filippo De Luca
Journal:  Eur J Pediatr       Date:  2006-03-07       Impact factor: 3.183
  9 in total
  1 in total

1.  Salt-wasting congenital adrenal hyperplasia: genotypical peculiarities in a Sicilian ethnic group.

Authors:  M Wasniewska; M Caruso; S Indovina; G Crisafulli; S Mirabelli; G Salzano; T Arrigo; F De Luca
Journal:  J Endocrinol Invest       Date:  2008-07       Impact factor: 4.256
  1 in total

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