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Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
Aims/hypothesisHeterozygous mutations in the gene of the transcription factor hepatocyte nuclear factor 4α (HNF-4α) are considered a rare cause of MODY with only 14 mutations reported to date. TheExpand
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Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.
CONTEXT Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormoneExpand
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Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited
OBJECTIVE Mutations in NKX2.1, NKX2.5, FOXE1 and PAX8 genes, encoding for transcription factors involved in the development of the thyroid gland, have been identified in a minority of patients withExpand
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Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.
BACKGROUND Mutations in the melanocortin 4 receptor gene (MC4R) represent the most common known cause of monogenic human obesity. AIMS The aims of this study were the following: 1) to estimate theExpand
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Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
OBJECTIVE To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the MiddleExpand
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Tumor Risk in Disorders of Sex Development
Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which ariseExpand
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Screening Detected Celiac Disease in Children with Type 1 Diabetes Mellitus: Effect on the Clinical Course (A Case Control Study)
Objective: To investigate clinical and metabolic characteristics of diabetic children with screening detected celiac disease in a multicenter case-control study. Methods: Cases: 98 diabetic patientsExpand
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Refining clinical phenotypes in septo-optic dysplasia based on MRI findings
Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates withExpand
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Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
OBJECTIVE Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1,Expand
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Association between neuromedin U gene variants and overweight and obesity.
BACKGROUND Neuromedin U (NMU) is an anorexic neuropeptide expressed in the hypothalamus. Mice lacking the NmU gene are hyperphagic and obese, whereas mice overexpressing Nmu are hypophagic and lean.Expand
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