Literature DB >> 26446026

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

Iram Shabir1, Madan L Khurana1, Eunice Marumudi2, Angela Ann Joseph3, Manju Mehta3, Jomimol John1, Ariachery C Ammini1.   

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Year:  2015        PMID： 26446026     DOI： 10.1007/s12098-015-1915-z

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


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  4 in total

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

Authors:  A E Thigpen; D L Davis; T Gautier; J Imperato-McGinley; D W Russell
Journal:  N Engl J Med       Date:  1992-10-22       Impact factor: 91.245

2.  Fertility in patients with 5-alpha-reductase-2 deficiency.

Authors:  Eunice Marumudi; Ariachery C Ammini
Journal:  Fertil Steril       Date:  2011-04-16       Impact factor: 7.329

Review 3.  Disorders linked to insufficient androgen action in male children.

Authors:  C Sultan; F Paris; B Terouanne; P Balaguer; V Georget; N Poujol; C Jeandel; S Lumbroso; J C Nicolas
Journal:  Hum Reprod Update       Date:  2001 May-Jun       Impact factor: 15.610

Review 4.  Steroid 5 alpha-reductase 2 deficiency.

Authors:  J D Wilson; J E Griffin; D W Russell
Journal:  Endocr Rev       Date:  1993-10       Impact factor: 19.871
  4 in total
  1 in total

1.  Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.

Authors:  Meshael M Alswailem; Ohoud S Alzahrani; Lamyaa Alghofaili; Ebtesam Qasem; Mai Almohanaa; Afaf Alsagheir; Bassam Bin Abbas; Najya A Attia; Adnan Al Shaikh; Ali S Alzahrani
Journal:  Endocrine       Date:  2018-09-29       Impact factor: 3.633
  1 in total

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