Literature DB >> 1406794

Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred.

A E Thigpen1, D L Davis, T Gautier, J Imperato-McGinley, D W Russell.   

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Year:  1992        PMID： 1406794     DOI： 10.1056/NEJM199210223271706

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  15 in total

1.  Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.

Authors:  Iram Shabir; Madan L Khurana; Eunice Marumudi; Angela Ann Joseph; Manju Mehta; Jomimol John; Ariachery C Ammini
Journal:  Indian J Pediatr       Date:  2015-10-08       Impact factor: 1.967

2.  Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression.

Authors:  A E Thigpen; R I Silver; J M Guileyardo; M L Casey; J D McConnell; D W Russell
Journal:  J Clin Invest       Date:  1993-08       Impact factor: 14.808

Review 3.  The effect of 5α-reductase-2 deficiency on human fertility.

Authors:  Hey-Joo Kang; Julianne Imperato-McGinley; Yuan-Shan Zhu; Zev Rosenwaks
Journal:  Fertil Steril       Date:  2014-01-08       Impact factor: 7.329

Review 4.  Clinical application of 5alpha-reductase inhibitors.

Authors:  A Cilotti; G Danza; M Serio
Journal:  J Endocrinol Invest       Date:  2001-03       Impact factor: 4.256

5.  5-Alpha-reductase deficiency in a Saudi "girl".

Authors:  J Punnose; K S Mathew; H F Ahmed
Journal:  Postgrad Med J       Date:  1995-11       Impact factor: 2.401

6.  Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation?

Authors:  J Zlotogora
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

7.  Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency.

Authors:  O Hiort; H Willenbring; N Albers; W Hecker; J Engert; L Dibbelt; G H Sinnecker
Journal:  Eur J Pediatr       Date:  1996-06       Impact factor: 3.183

8.  5 alpha-reductase deficiency in patients with micropenis.

Authors:  Y Z Gad; H Nasr; I Mazen; N Salah; R el-Ridi
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

9.  Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

Authors:  Felipe Vilchis; Evangelina Valdez; Luis Ramos; Rocio García; Rita Gómez; Bertha Chávez
Journal:  J Hum Genet       Date:  2008-03-19       Impact factor: 3.172

10.  Effect of finasteride in idiopathic hirsutism.

Authors:  E Faloia; S Filipponi; V Mancini; S Di Marco; F Mantero
Journal:  J Endocrinol Invest       Date:  1998-11       Impact factor: 4.256
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