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Toplam kayıt 13, listelenen: 1-10
Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up
(WALTER DE GRUYTER GMBH, 2017)
Background: Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given. Method: Data were obtained from patients' medical records. All patients underwent hormonal ...
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey (vol 36, pg 220, 2016)
(SPRINGER/PLENUM PUBLISHERS, 2016)
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Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
(GALENOS YAYINCILIK, 2017)
Testicular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3 beta-hydroxysteroid dehydrogenase deficiency (HSD3 ...
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism
(GALENOS YAYINCILIK, 2016)
Objective: Mutations in the K-ATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term ...
Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer
(BILIMSEL TIP YAYINEVI, 2017)
Objective: Lipopolysaccharide-responsive beige-like anchor (LRBA) plays a role in cell surface expression of inhibitory cytotoxic T lymphocyte-associated protein-4 (CTLA-4) protein. Recently identified LRBA deficiency leads ...
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
(SPRINGER/PLENUM PUBLISHERS, 2016)
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of ...
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
(ENDOCRINE SOC, 2016)
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular ...