Endocrinology

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Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome
Journal of Clinical Endocrinology and Metabolism, 06/23/09

Isidor B et al. - This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis. Importantly, the present report is the first one describing the association of SRY mutation in a male with TDS. This suggests that mutations in a sex-determining gene may contribute to the pathogenesis of TDS.

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TCF7L2 Variant rs7903146 Affects the Risk of Type 2 Diabetes by Modulating Incretin Action
Diabetes, 11/25/09

Regulation of MAP-kinase-directed mitogenic and PKB-mediated signalling by cannabinoid receptor type 1 in skeletal muscle cells
Diabetes, 11/25/09

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
Diabetes, 11/25/09

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Effects of metformin with or without supplementation with folate on homocysteine levels and vascular endothelium of women with polycystic ovary syndrome
Diabetes Care, 11/25/09

Effects of Birth Weight on Anti-Mullerian Hormone Serum Concentrations in Infant Girls
Journal of Clinical Endocrinology and Metabolism, 11/25/09

Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome
Diabetes Research and Clinical Practice, 11/25/09

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