about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneNormative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years.Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cisPuberty and influencing factors in schoolgirls living in Istanbul: end of the secular trend?Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two casesCirculating insulin-like growth factor binding protein-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: evidence from children with rickets.Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z-scores in different types of ricketsEvidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signalingGNAS Spectrum of Disorders.Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.Turner syndrome and associated problems in Turkish children: a multicenter studyCurrent practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from TurkeyLoss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study GroupRare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortDe novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.Maternal thyroid dysfunction and neonatal thyroid problems.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter StudyPostnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionThe role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children.Pycnodysostosis at otorhinolaryngology.Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences.From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.Evaluation and Treatment Results of Ovarian Cysts in Childhood and Adolescence: A Multicenter, Retrospective Study of 100 Patients.Current research on pycnodysostosis.Heterotrimeric G proteins in the control of parathyroid hormone actions.The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study.Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.The diagnostic value of soluble urokinase plasminogen activator receptor (suPAR) compared to C-reactive protein (CRP) and procalcitonin (PCT) in children with systemic inflammatory response syndrome (SIRS).The diagnostic value of soluble urokinase plasminogen activator receptor compared with C-reactive protein and procalcitonin in children with febrile neutropenia.Risk factors for mortality caused by hypothalamic obesity in children with hypothalamic tumours.GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.
P50
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P50
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Serap Turan
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Serap Turan
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Serap Turan
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0000-0002-5172-5402
P569
2000-01-01T00:00:00Z