Literature DB >> 5794832

Gonadal dysgenesis as an autosomal recessive condition.

A C Christakos, J L Simpson, J B Younger, C D Christian.   

Abstract

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Year:  1969        PMID: 5794832     DOI: 10.1016/0002-9378(69)90697-8

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


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  5 in total

1.  46, XX gonadal dysgenesis and ovarian hypoplasia.

Authors:  J Málková; R Chrz; K Motlík; L Stárka; J Kobilková; E Silinková-Málková
Journal:  Humangenetik       Date:  1974

Review 2.  Inheritance of intersex disorders.

Authors:  D Muram; J Dewhurst
Journal:  Can Med Assoc J       Date:  1984-01-15       Impact factor: 8.262

3.  Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.

Authors:  Sarah B Pierce; Karen M Chisholm; Eric D Lynch; Ming K Lee; Tom Walsh; John M Opitz; Weiqing Li; Rachel E Klevit; Mary-Claire King
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-04       Impact factor: 11.205

4.  Reproducing genetics.

Authors:  Joe Leigh Simpson
Journal:  Genet Med       Date:  2015-06       Impact factor: 8.822

5.  Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Authors:  Daniel S Lieber; Steven G Hershman; Nancy G Slate; Sarah E Calvo; Katherine B Sims; Jeremy D Schmahmann; Vamsi K Mootha
Journal:  BMC Med Genet       Date:  2014-03-06       Impact factor: 2.103

  5 in total

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