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See Latest Articles46,XY disorders of sex development (DSD)
Clinical Endocrinology, 01/28/09
Mendonca BB et al. - Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD. Detailed clinical phenotypes allow the identification of new factors that can alter the expression or function of mutated proteins helping to understand new undisclosed biochemical pathways. In this review the authors present an update on 46,XY DSD aetiology, diagnosis and treatment based on extensive review of the literature and the three decades of experience with these patients.
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 Fetal Development...keeping you current
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Perinatal Outcome of Monochorionic Twins with Selective Intrauterine Growth Restriction and Different Types of Umbilical Artery Doppler under Expectant Management
Fetal Diagnosis and Therapy, 12/17/09
Recent advances in our understanding of protein and amino acid metabolism in the human fetus
Current Opinion in Clinical Nutrition & Metabolic Care, 12/14/09
Sex and the Human Placenta: Mediating Differential Strategies of Fetal Growth and Survival
Placenta, 12/14/09
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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