Yayıncı "Endocrine Soc" Dahili Tıp Bilimleri Bölümü için listeleme
Toplam kayıt 9, listelenen: 1-9
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A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ... -
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause Of Neonatal Death, Explained By Tpit Gene Mutations
(Endocrine Soc, 2005)Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of ... -
Corticotropin Tests For Hypothalamic-Pituitary-Adrenal Insufficiency: A Metaanalysis
(Endocrine Soc, 2008)Context: The diagnostic value of tests for detecting hypothalamic-pituitary adrenal insufficiency (HPAI) is controversial. Objective: Our objective was to compare standard-dose and low-dose corticotropin tests for diagnosing ... -
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-Alpha Mutations
(Endocrine Soc, 2016)Context: Recently several patients with resistance to thyroid hormone (RTH)-alpha due to T-3 receptor-alpha (TR alpha) mutations were identified. The phenotype of these patients consists of varying degrees of growth ... -
Glucose Intolerance, Insulin Resistance, And Hyperandrogenemia In First Degree Relatives Of Women With Polycystic Ovary Syndrome
(Endocrine Soc, 2003)Polycystic ovary syndrome (PCOS) is associated with hyperinsulinemia, insulin resistance (IR), increased risk of glucose intolerance, and type 2 diabetes. Family studies have indicated a genetic susceptibility to PCOS. The ... -
Impact Of Obesity On The Risk For Polycystic Ovary Syndrome
(Endocrine Soc, 2008)Context: Although it is we I I established that adiposity increases the severity of the clinical features of polycystic ovary syndrome (PCOS), the data regarding the prevalence of PCOS in obese women and the change in body ... -
Referral Bias in Defining the Phenotype and Prevalence of Obesity in Polycystic Ovary Syndrome
(Endocrine Soc, 2013)Background: The described phenotype of the polycystic ovary syndrome (PCOS) has been primarily based on findings in a referred (self or otherwise) population. It is possible that the phenotype of PCOS would be different ... -
Stability Of Adrenocortical Steroidogenesis Over Time In Healthy Women And Women With Polycystic Ovary Syndrome
(Endocrine Soc, 2004)Adrenocortical secretion is up-regulated in women with polycystic ovary syndrome (PCOS), and absolute adrenal androgen (AA) excess is evident in similar to25% of these patients. We hypothesized that AA biosynthesis is an ... -
The Prevalence And Features Of The Polycystic Ovary Syndrome In An Unselected Population
(Endocrine Soc, 2004)Notwithstanding the potential public health impact of the polycystic ovary syndrome ( PCOS), estimates regarding its prevalence are limited and unclear. Between July 1998 and October 1999, 400 unselected consecutive ...