Published in Pediatr Res on September 01, 2009
The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta (2012) 1.35
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Thyroxine binding globulin excess detected by neonatal screening. Ann Pediatr Endocrinol Metab (2016) 0.75
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet (2004) 2.65
Induction chemotherapy followed by low-dose involved-field radiotherapy for intracranial germ cell tumors. J Clin Oncol (2002) 1.81
High thyroid volume in children with excess dietary iodine intakes. Am J Clin Nutr (2005) 1.74
Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab (2007) 1.65
New reference values for thyroid volume by ultrasound in iodine-sufficient schoolchildren: a World Health Organization/Nutrition for Health and Development Iodine Deficiency Study Group Report. Am J Clin Nutr (2004) 1.54
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol (2010) 1.51
Mass screening for Wilson's disease by measuring urinary holoceruloplasmin. J Pediatr (2002) 1.47
A Japanese patient of congenital hypothyroidism with cerebellar atrophy. Endocr J (2007) 1.41
Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2 mutations. J Infect Dis (2007) 1.39
Effect of neonatal hypoxia on the development of intraspinal serotonergic fibers in relation to spinal motoneurons. Brain Dev (2009) 1.39
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency. Metabolism (2010) 1.37
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab (2003) 1.34
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol (2007) 1.12
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis (2010) 1.09
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab (2009) 1.08
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab (2008) 1.05
Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J (2010) 1.04
Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate: evaluation of effectiveness of treatment and recovery of gonadal function. The TAP-144-SR Japanese Study Group on Central Precocious Puberty. J Clin Endocrinol Metab (2004) 1.03
Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocr J (2003) 0.98
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. J Thyroid Res (2009) 0.98
Computerized version of the Wisconsin card sorting test in children with high-functioning autistic disorder or attention-deficit/hyperactivity disorder. Brain Dev (2005) 0.97
Transforming growth factor-beta1 induces matrix metalloproteinase-9 expression in human meningeal cells via ERK and Smad pathways. Biochem Biophys Res Commun (2009) 0.97
Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark Insights (2011) 0.96
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab (2002) 0.95
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab (2009) 0.95
Conditional deletion of neuronal cyclin-dependent kinase 5 in developing forebrain results in microglial activation and neurodegeneration. Am J Pathol (2009) 0.95
Sexually dimorphic expression of Dax-1 in the adrenal cortex. Genes Cells (2002) 0.94
Axial spondylometaphyseal dysplasia: additional reports. Am J Med Genet A (2011) 0.93
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis (2010) 0.93
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol (2003) 0.92
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Endocr J (2007) 0.92
A nationwide attempt to standardize growth hormone assays. Horm Res (2005) 0.90
Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). Mol Endocrinol (2003) 0.90
46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res (2003) 0.89
Efficacy and Safety of Up to 8 Years of Long-term Growth Hormone Treatment in Short Children Born Small for Gestational Age in Japan: Analysis of the Subpopulation According to the Japanese Guideline. Clin Pediatr Endocrinol (2012) 0.88
Newborn screening for Pompe disease in Japan. Mol Genet Metab (2011) 0.87
Molecular comparison of bacterial isolates from blood with strains colonizing pharynx and intestine in immunocompromised patients with sepsis. J Med Microbiol (2003) 0.86
Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese. Pediatr Res (2009) 0.86
Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. J Clin Endocrinol Metab (2010) 0.85
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. J Hum Genet (2009) 0.84
Neonatal screening for congenital adrenal hyperplasia in Japan. Pediatr Endocrinol Rev (2012) 0.83
Case study of a 15-year-old boy with McCune-Albright syndrome combined with pituitary gigantism: effect of octreotide-long acting release (LAR) and cabergoline therapy. Endocr J (2008) 0.83
Dried umbilical cords in the retrospective diagnosis of congenital cytomegalovirus infection as a cause of developmental delays. Clin Infect Dis (2009) 0.83
Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan. Pediatr Int (2009) 0.83
Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus. J Pediatr Endocrinol Metab (2006) 0.82
Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome. Endocr J (2006) 0.82
Actigraphic assessment of sleep disorders in children with chronic fatigue syndrome. Brain Dev (2007) 0.82
Analysis of expression and structure of the rat GH-secretagogue/ghrelin receptor (Ghsr) gene: roles of epigenetic modifications in transcriptional regulation. Mol Cell Endocrinol (2011) 0.81
Efficacy and safety of growth hormone treatment in children born small for gestational age in Japan. J Pediatr Endocrinol Metab (2008) 0.81
P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. Endocr Res (2004) 0.81
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency. Metabolism (2009) 0.81
5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. Eur J Med Genet (2010) 0.81
Long-term efficacy and safety of two doses of growth hormone in short Japanese children born small for gestational age. Horm Res Paediatr (2011) 0.81
A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. Endocr J (2009) 0.81
Simultaneous determination of 17alpha-hydroxypregnenolone and 17alpha-hydroxyprogesterone in dried blood spots from low birth weight infants using LC-MS/MS. J Pharm Biomed Anal (2008) 0.81
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J (2002) 0.81
Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay. Mol Genet Metab (2008) 0.81
An EP4 receptor agonist prevents indomethacin-induced closure of rat ductus arteriosus in vivo. Pediatr Res (2004) 0.80
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. Eur J Pediatr (2002) 0.80
Low-dose craniospinal irradiation and ifosfamide, cisplatin and etoposide for non-metastatic embryonal tumors in the central nervous system. Jpn J Clin Oncol (2008) 0.80
Global inequalities in paediatric endocrine practice: statement of minimal acceptable care. Statement from the international societies for paediatric endocrinology. Horm Res (2006) 0.79
Impact of margin for target volume in low-dose involved field radiotherapy after induction chemotherapy for intracranial germinoma. Int J Radiat Oncol Biol Phys (2004) 0.79
Matrix metalloproteinases in infants with posthemorrhagic hydrocephalus. Early Hum Dev (2007) 0.79
An observational study of the effectiveness and safety of growth hormone (Humatrope(®)) treatment in Japanese children with growth hormone deficiency or Turner syndrome. Endocr J (2012) 0.79
Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites. J Clin Endocrinol Metab (2011) 0.79
Clinical characteristics of Japanese adults with growth hormone deficiency: a HypoCCS database study. Endocr J (2011) 0.78
Single cytomegalovirus strain associated with fetal loss and then congenital infection of a subsequent child born to the same mother. J Clin Virol (2010) 0.78
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. Endocr J (2005) 0.78
Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X,idic(Y),idic(Y)/46,X, idic(Y)/45,X. Endocr J (2002) 0.78
Retrospective diagnosis of congenital cytomegalovirus infection using dried umbilical cords. Pediatr Infect Dis J (2004) 0.78
Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome. Endocr J (2010) 0.78
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. Clin Endocrinol (Oxf) (2012) 0.77
Low-dose growth hormone treatment (0.175 mg/kg/week) for short stature in patients with Turner Syndrome: data from KIGS Japan. Endocr J (2006) 0.77
Dose-dependent changes in body composition during growth hormone (GH) treatment in Japanese patients with adult GH deficiency: a randomized, placebo-controlled trial. Growth Horm IGF Res (2010) 0.77
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. Clin Exp Nephrol (2009) 0.77
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival. J Pediatr Endocrinol Metab (2010) 0.77
Increased expression of matrix metalloproteinase-9 and hepatocyte growth factor in the cerebrospinal fluid of infants with posthemorrhagic hydrocephalus. Early Hum Dev (2010) 0.77
Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti. Brain Dev (2008) 0.76
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol (Oxf) (2011) 0.76
Favorable impact of growth hormone treatment on cholesterol levels in turner syndrome. Clin Pediatr Endocrinol (2012) 0.76
Postnatal development of brainstem serotonin-containing neurons projecting to lumbar spinal cord in rats. Brain Dev (2006) 0.76
Impaired cardiac sympathetic nerve function in patients with Kawasaki disease: comparison with myocardial perfusion. Pediatr Res (2005) 0.76
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. J Pediatr Endocrinol Metab (2016) 0.75
[Effects of tizanidine for refractory sleep disturbance in disabled children with spastic quadriplegia]. No To Hattatsu (2004) 0.75
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). Clin Pediatr Endocrinol (2010) 0.75
Hypomagnesemia in a patient with Barth syndrome. J Pediatr Endocrinol Metab (2005) 0.75
Adult heights of 258 girls with turner syndrome on low dose of growth hormone therapy in Japan. Clin Pediatr Endocrinol (2010) 0.75
A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia. Clin Pediatr Endocrinol (2011) 0.75
Favorable Impacts of Growth Hormone (GH) Replacement Therapy on Atherogenic Risks in Japanese Children with GH Deficiency. Clin Pediatr Endocrinol (2012) 0.75
A rare mutation in cystic fibrosis transmembrane conductance regulator gene in a recurrent pancreatitis patient without respiratory symptoms. Pancreas (2010) 0.75
Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: a successful use of zonisamide for controlling the seizures. Epilepsy Res (2008) 0.75
Allele specific PCR with microfluorometry: application to the detection of del F508 mutation in cystic fibrosis. Clin Chim Acta (2002) 0.75
[Leprechaunism caused by mutations in the insulin receptor gene]. Nihon Rinsho (2002) 0.75