Published in Eur J Med Genet on December 21, 2010
Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet (2014) 1.14
Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot. J Transl Med (2014) 0.83
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet (2013) 0.83
Changes in gene methylation patterns in neonatal murine hearts: Implications for the regenerative potential. BMC Genomics (2016) 0.76
Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII. Sci Rep (2017) 0.75
Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet (2002) 2.96
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet (2004) 2.65
Pulmonary arterial wall stiffness and its impact on right ventricular afterload in patients with repaired tetralogy of Fallot. Ann Thorac Surg (2013) 2.63
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
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
A Japanese patient of congenital hypothyroidism with cerebellar atrophy. Endocr J (2007) 1.41
Effect of neonatal hypoxia on the development of intraspinal serotonergic fibers in relation to spinal motoneurons. Brain Dev (2009) 1.39
Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2 mutations. J Infect Dis (2007) 1.39
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
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
BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A (2006) 1.30
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A (2007) 1.18
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet (2012) 1.16
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol (2007) 1.12
Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. J Hum Genet (2002) 1.08
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
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet (2004) 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
The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am J Med Genet A (2011) 1.03
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
Prostaglandin E2--mediated relaxation of the ductus arteriosus: effects of gestational age on g protein-coupled receptor expression, signaling, and vasomotor control. Circulation (2004) 1.02
The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet A (2008) 1.01
VEGF regulates remodeling during permanent anatomic closure of the ductus arteriosus. Am J Physiol Regul Integr Comp Physiol (2002) 0.99
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet (2007) 0.99
Calcium-dependent and calcium-sensitizing pathways in the mature and immature ductus arteriosus. Am J Physiol Regul Integr Comp Physiol (2007) 0.98
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect. J Thyroid Res (2009) 0.98
Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocr J (2003) 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
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
Conditional deletion of neuronal cyclin-dependent kinase 5 in developing forebrain results in microglial activation and neurodegeneration. Am J Pathol (2009) 0.95
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet (2012) 0.94
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
The growing teratoma syndrome secondary to immature teratoma of the ovary. Eur Radiol (2002) 0.93
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet (2011) 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
Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. Hypertension (2006) 0.91
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
Elevated free thyroxine levels detected by a neonatal screening system. Pediatr Res (2009) 0.88
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
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet (2002) 0.87
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. Am J Med Genet A (2008) 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
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. Brain Dev (2008) 0.85
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. Am J Med Genet A (2013) 0.85
Oxygen-induced tension in the sheep ductus arteriosus: effects of gestation on potassium and calcium channel regulation. Pediatr Res (2009) 0.84
Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization. Am J Med Genet A (2007) 0.84
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
Dried umbilical cords in the retrospective diagnosis of congenital cytomegalovirus infection as a cause of developmental delays. Clin Infect Dis (2009) 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
MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A (2011) 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
Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine (Phila Pa 1976) (2006) 0.82
Actigraphic assessment of sleep disorders in children with chronic fatigue syndrome. Brain Dev (2007) 0.82
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. Am J Med Genet A (2006) 0.82
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
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
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
Sequential changes in pathophysiology of systemic inflammatory response in a disseminated neonatal herpes simplex virus (HSV) infection. J Clin Virol (2012) 0.81
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
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
Association of TNFRSF4 gene polymorphisms with essential hypertension. J Hypertens (2008) 0.80
Evaluation of glycated hemoglobin and fetal hemoglobin-adjusted HbA1c measurements in infants. Pediatr Diabetes (2013) 0.80
An EP4 receptor agonist prevents indomethacin-induced closure of rat ductus arteriosus in vivo. Pediatr Res (2004) 0.80
In utero indomethacin alters O2 delivery to the fetal ductus arteriosus: implications for postnatal patency. Am J Physiol Regul Integr Comp Physiol (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
Matrix metalloproteinases in infants with posthemorrhagic hydrocephalus. Early Hum Dev (2007) 0.79