Published in Thyroid on November 01, 2004
Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment. J Clin Res Pediatr Endocrinol (2012) 0.92
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid (2012) 0.75
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet (2004) 2.49
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab (2011) 1.67
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet (2007) 1.29
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 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
Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease. J Clin Endocrinol Metab (2013) 1.03
Linking C5 deficiency to an exonic splicing enhancer mutation. J Immunol (2005) 1.03
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
Anthropometry, metabolic control, and thyroid autoimmunity in type 1 diabetes with celiac disease: A multicenter survey. J Pediatr (2004) 0.98
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am J Med Genet A (2004) 0.97
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
Microarray analysis reveals differential gene expression patterns and regulation of single target genes contributing to the opposing phenotype of TrkA- and TrkB-expressing neuroblastomas. Oncogene (2005) 0.95
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. Clin Endocrinol (Oxf) (2006) 0.95
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
Distinctive Spatiotemporal Stability of Somatic Mutations in Metastasized Microsatellite-stable Colorectal Cancer. Am J Surg Pathol (2015) 0.95
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
Ghrelin and other appetite-regulating hormones in paediatric patients with chronic renal failure during dialysis and following kidney transplantation. Nephrol Dial Transplant (2008) 0.91
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
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
Long-term follow-up of pediatric patients receiving total body irradiation before hematopoietic stem cell transplantation and post-transplant survival of >2 years. Pediatr Blood Cancer (2013) 0.90
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab (2011) 0.89
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf) (2007) 0.89
Association of parvovirus B19 infection and Hashimoto's thyroiditis in children. Viral Immunol (2008) 0.87
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
Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. J Pediatr Endocrinol Metab (2006) 0.86
Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. Eur J Endocrinol (2013) 0.86
Alterations in appetite-regulating hormones influence protein-energy wasting in pediatric patients with chronic kidney disease. Pediatr Nephrol (2010) 0.85
Does the cortisol response to stress mediate the link between expressed emotion and oppositional behavior in Attention-Deficit/Hyperactivity-Disorder (ADHD)? Behav Brain Funct (2010) 0.85
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Eur J Endocrinol (2012) 0.85
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
Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis. Am J Med Genet (2002) 0.82
Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001. Hum Reprod (2005) 0.81
Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring. PLoS One (2012) 0.81
The dental anxiety scale and effects of dental fear on salivary cortisol. Percept Mot Skills (2005) 0.81
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
Different relationships between the first 2 years on growth hormone treatment and the d3-growth hormone receptor polymorphism in short small-for-gestational-age (SGA) children. Clin Endocrinol (Oxf) (2011) 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
Lipoatrophy is associated with an increased risk of Hashimoto's thyroiditis and coeliac disease in female patients with type 1 diabetes. Horm Res Paediatr (2013) 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
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R). Acta Paediatr (2006) 0.79
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Horm Res (2005) 0.79
About the benefits of growth hormone treatment in children with Prader-Willi syndrome. J Pediatr (2009) 0.79
Venous sampling can be crucial in identifying the testicular origin of idiopathic male luteinising hormone-independent sexual precocity. Eur J Pediatr (2002) 0.79
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance. Eur J Hum Genet (2010) 0.79
Height gain in Ullrich-Turner syndrome after early and late growth hormone treatment start: results from a large retrospective German study and potential basis for an individualized treatment approach. Horm Res Paediatr (2013) 0.78
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
Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment. Cancer Med (2014) 0.78
GH treatment reduces total ghrelin in Prader-Willi syndrome (PWS) and may confound ghrelin studies in young PWS children. Clin Endocrinol (Oxf) (2008) 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
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
Increase of serum leptin after short-term pulsatile GnRH administration in children with delayed puberty. Eur J Endocrinol (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
Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene. Case Rep Pediatr (2011) 0.75
Early detection of growth disorders with the CrescNet system at the Leipzig Treatment Center. Cooperation should not be stopped. Dtsch Arztebl Int (2011) 0.75
Autonomous thyroid adenoma: only an adulthood disease? J Pediatr (2009) 0.75
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS One (2017) 0.75
Plasma concentrations of osteocalcin are associated with the timing of pubertal progress in boys. J Pediatr Endocrinol Metab (2016) 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
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families. J Pediatr Endocrinol Metab (2009) 0.75
Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation. Clin Dysmorphol (2004) 0.75
Pediatric plenary session. Introduction. Puberty. Horm Res (2007) 0.75
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children. Acta Paediatr (2009) 0.75
Metabolic safety of growth hormone in type 1 diabetes and idiopathic growth hormone deficiency. J Pediatr (2013) 0.75
Growing news on Noonan and related syndromes. Horm Res (2009) 0.75
Intrauterine treatment of an infant with fetal goitre. J Pediatr Endocrinol Metab (2010) 0.75