Published in Clin Endocrinol (Oxf) on December 01, 2006
Nox proteins in signal transduction. Free Radic Biol Med (2009) 3.47
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab (2007) 1.41
Activation of dual oxidases Duox1 and Duox2: differential regulation mediated by camp-dependent protein kinase and protein kinase C-dependent phosphorylation. J Biol Chem (2009) 1.29
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab (2011) 0.99
NADPH oxidases: a perspective on reactive oxygen species production in tumor biology. Antioxid Redox Signal (2013) 0.99
Structural stability and heme binding potential of the truncated human dual oxidase 2 (DUOX2) peroxidase domain. Arch Biochem Biophys (2011) 0.84
Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening. Clin Pediatr Endocrinol (2009) 0.81
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? Adv Biomed Res (2012) 0.79
Defects of Thyroid Hormone Synthesis and Action. Endocrinol Metab Clin North Am (2017) 0.75
Diabetic nephropathy in 27,805 children, adolescents, and adults with type 1 diabetes: effect of diabetes duration, A1C, hypertension, dyslipidemia, diabetes onset, and sex. Diabetes Care (2007) 2.18
Sodium-glucose cotransporter 2 inhibition and glycemic control in type 1 diabetes: results of an 8-week open-label proof-of-concept trial. Diabetes Care (2014) 1.60
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol (2007) 1.17
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet (2007) 1.14
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab (2007) 1.10
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. J Mol Med (Berl) (2002) 1.04
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab (2006) 1.04
Linking C5 deficiency to an exonic splicing enhancer mutation. J Immunol (2005) 1.03
MKRN3 mutations in familial central precocious puberty. Horm Res Paediatr (2014) 1.02
Use of complementary and alternative medicine in children with type 1 diabetes mellitus - prevalence, patterns of use, and costs. Pediatr Diabetes (2008) 1.01
Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A (2013) 1.01
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab (2011) 0.99
Detection of papillary thyroid carcinoma by analysis of BRAF and RET/PTC1 mutations in fine-needle aspiration biopsies of thyroid nodules. World J Surg (2010) 0.97
Male fish use prior knowledge about rivals to adjust their mate choice. Biol Lett (2011) 0.96
Intrathyroidal thymic tissue surrounding an intrathyroidal parathyroid gland, the cause of a solitary thyroid nodule in a 6-year-old boy. Thyroid (2008) 0.95
Screening frequency for celiac disease and autoimmune thyroiditis in children and adolescents with type 1 diabetes mellitus--data from a German/Austrian multicentre survey. Pediatr Diabetes (2008) 0.94
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab (2003) 0.94
Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation. Thyroid (2012) 0.93
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis (2012) 0.90
Accurate long-term prediction of height during the first four years of growth hormone treatment in prepubertal children with growth hormone deficiency or Turner Syndrome. Horm Res Paediatr (2012) 0.90
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab (2004) 0.90
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf) (2007) 0.89
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab (2011) 0.89
Anthropometry, metabolic control, and follow-up in children and adolescents with type 1 diabetes mellitus and biopsy-proven celiac disease. J Pediatr (2010) 0.89
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene. J Clin Endocrinol Metab (2005) 0.88
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol (2008) 0.87
Complementary effect of natural and sexual selection against immigrants maintains differentiation between locally adapted fish. Naturwissenschaften (2010) 0.87
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract. Thyroid (2013) 0.84
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. J Clin Endocrinol Metab (2004) 0.83
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. J Pediatr Endocrinol Metab (2011) 0.83
Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment. J Pediatr (2010) 0.83
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. J Clin Endocrinol Metab (2007) 0.82
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid (2013) 0.81
A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab (2004) 0.80
Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q. Am J Med Genet A (2005) 0.80
Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up. Am J Obstet Gynecol (2005) 0.80
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Horm Res (2005) 0.79
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene. Thyroid (2004) 0.79
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. Thyroid (2014) 0.78
A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey. Horm Res Paediatr (2014) 0.78
Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing. Horm Res Paediatr (2012) 0.78
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene. Clin Endocrinol (Oxf) (2006) 0.77
Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment. Eur J Pediatr (2004) 0.76
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies. J Pediatr Endocrinol Metab (2013) 0.75
Autonomous thyroid adenoma: only an adulthood disease? J Pediatr (2009) 0.75
Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene. Case Rep Pediatr (2011) 0.75
Initial insulin therapy in children and adolescents with type 1 diabetes mellitus. Pediatr Diabetes (2009) 0.75
Empagliflozin and Cardiovascular Outcomes in Asian Patients With Type 2 Diabetes and Established Cardiovascular Disease - Results From EMPA-REG OUTCOME(®). Circ J (2016) 0.75
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. J Pediatr Endocrinol Metab (2009) 0.75
Intrauterine treatment of an infant with fetal goitre. J Pediatr Endocrinol Metab (2010) 0.75
Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan. J Pediatr Endocrinol Metab (2013) 0.75
Mosaic tetrasomy 14pterq13.1: longitudinal study. Eur J Med Genet (2011) 0.75
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children. Acta Paediatr (2009) 0.75