Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods-Reference-Cited by-同舟云学术

Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

Published:2011-11 Issue:6 Volume:54 Page:e529-e534
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Das Dhanjit Kumar,Sanghavi Daksha,Gawde Harshavardhan,Idicula-Thomas Susan,Vasudevan Lakshmi

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference14 articles.

1. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif;Sinclair;Nature,1990

2. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis;Hawkins;Am. J. Hum. Genet.,1992

3. Novel mutations affecting SRY DNA binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotype;Assumpcao;J. Mol. Med.,2002

4. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients;Domenice;Braz. J. Med. Biol. Res.,2004

5. Mutations in MAP3K1 cause 46, XY disorders of sex development and implicate a common signal transduction pathway in human testis determination;Pearlman;Am. J. Hum. Genet.,2010

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