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See Latest ArticlesFamilial 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.
Today in Basic Science/Genetics...keeping you current
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Prevalence of Pancreatic Diabetes in Patients Carrying Mutations or Polymorphisms of the PRSS1 Gene in the Han Population
Diabetes Technology & Therapeutics, 12/17/09
New Mutations in the RET Protooncogene-L881V - Associated with Medullary Thyroid Carcinoma and -R770Q - in a Patient with Mixed Medullar/Follicular Thyroid Tumour
Experimental and Clinical Endocrinology & Diabetes, 12/17/09
Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
Journal of Clinical Endocrinology and Metabolism, 12/17/09
Today in Reproductive Endocrinology...keeping you current
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A new FSHbeta mutation in a 29 year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH
European Journal of Endocrinology, 12/17/09
Associations of Birthweight and Gestational Age with Reproductive and Metabolic Phenotypes in Women with Polycystic Ovarian Syndrome and Their First-Degree Relatives
Journal of Clinical Endocrinology and Metabolism, 12/17/09
Metformin Reduces Arterial Stiffness and Improves Endothelial Function in Young Women with Polycystic Ovary Syndrome: A Randomized, Placebo-Controlled, Crossover Trial
Journal of Clinical Endocrinology and Metabolism, 12/17/09
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