Literature DB >> 16483186

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

G Di Pasquale, M Wasniewska, M Caruso, G Salzano, M Coco, F Lombardo, F De Luca.   

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Year:  2005        PMID： 16483186     DOI： 10.1007/BF03345346

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


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  5 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.  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 3.  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

4.  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

5.  Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

Authors:  M Barbaro; S Lajic; L Baldazzi; A Balsamo; P Pirazzoli; A Cicognani; A Wedell; E Cacciari
Journal:  J Clin Endocrinol Metab       Date:  2004-05       Impact factor: 5.958
  5 in total
  3 in total

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

Authors:  L Di Pasquale; S Indovina; M Wasniewska; S Mirabelli; P Porcelli; I Rulli; G Salzano; F De Luca
Journal:  J Endocrinol Invest       Date:  2007-10       Impact factor: 4.256

2.  Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Authors:  Cecilia S Fernández; Carlos D Bruque; Melisa Taboas; Noemí D Buzzalino; Lucia D Espeche; Titania Pasqualini; Eduardo H Charreau; Liliana G Alba; Pablo D Ghiringhelli; Liliana Dain
Journal:  Endocrine       Date:  2015-07-17       Impact factor: 3.633

3.  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
  3 in total

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