Published in J Clin Endocrinol Metab on December 01, 2004
Steroid profiling by gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry for adrenal diseases. Horm Cancer (2011) 0.87
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol (2015) 0.81
Comprehensive 2-dimensional gas chromatography fast quadrupole mass spectrometry (GC × GC-qMS) for urinary steroid profiling: mass spectral characteristics with chemical ionization. Drug Test Anal (2011) 0.79
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Pediatr Endocrinol Metab (2016) 0.76
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clin Pediatr Endocrinol (2016) 0.75
The circadian variation of cortisol secretion in patients with anorexia nervosa in childhood and adolescence after recovery of body weight by treatment using gas chromatography/mass spectrometry in selected ion monitoring. Clin Pediatr Endocrinol (2007) 0.75
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening. Mol Genet Metab Rep (2016) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche. Cell Stem Cell (2007) 4.31
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. Mol Genet Metab (2010) 2.23
Vitamin K prophylaxis and late vitamin K deficiency bleeding in infants: fifth nationwide survey in Japan. Pediatr Int (2011) 2.06
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. J Infect Dis (2007) 1.85
Methylation and gene silencing of the Ras-related GTPase gene in lung and breast cancers. Ann Surg Oncol (2006) 1.79
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab (2007) 1.75
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet (2013) 1.71
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
The RNA-binding protein HuD regulates neuronal cell identity and maturation. Proc Natl Acad Sci U S A (2005) 1.66
Generation of a transplantable erythropoietin-producer derived from human mesenchymal stem cells. Transplantation (2008) 1.58
Efficacy of intravenous midazolam for status epilepticus in childhood. Pediatr Neurol (2007) 1.58
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab (2004) 1.55
Polymorphisms, mutations, and amplification of the EGFR gene in non-small cell lung cancers. PLoS Med (2007) 1.52
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertil Steril (2004) 1.52
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
Hypoxic regulation of the cerebral microcirculation is mediated by a carbon monoxide-sensitive hydrogen sulfide pathway. Proc Natl Acad Sci U S A (2012) 1.50
Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J Clin Endocrinol Metab (2005) 1.50
Human mesenchymal stem cells in rodent whole-embryo culture are reprogrammed to contribute to kidney tissues. Proc Natl Acad Sci U S A (2005) 1.48
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A (2009) 1.47
Complete mutation analysis panel of the 39 human HOX genes. Teratology (2002) 1.47
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. Clin Ther (2010) 1.43
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients. Horm Res Paediatr (2013) 1.40
Retracted Methylation of apoptosis related genes in the pathogenesis and prognosis of prostate cancer. Cancer Lett (2006) 1.40
Aberrant methylation of trail decoy receptor genes is frequent in multiple tumor types. Int J Cancer (2004) 1.32
Endothelin-1 regulates cardiac sympathetic innervation in the rodent heart by controlling nerve growth factor expression. J Clin Invest (2004) 1.31
Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab (2010) 1.31
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab (2012) 1.30
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J Neurosci (2008) 1.28
Retracted Aberrant methylation profile of human malignant mesotheliomas and its relationship to SV40 infection. Oncogene (2005) 1.25
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab (2004) 1.24
Efficacy and immunologic responses to influenza vaccine in HIV-1-infected patients. J Acquir Immune Defic Syndr (2005) 1.22
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab (2010) 1.22
Aberrant methylation of HIN-1 (high in normal-1) is a frequent event in many human malignancies. Int J Cancer (2005) 1.21
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Telomere length of normal leukocytes is affected by a functional polymorphism of hTERT. Biochem Biophys Res Commun (2006) 1.20
Elevated circulating insulin-like growth factor binding protein-1 is sufficient to cause fetal growth restriction. Endocrinology (2005) 1.20
Xenobiotic kidney organogenesis from human mesenchymal stem cells using a growing rodent embryo. J Am Soc Nephrol (2006) 1.19
Retracted Aberrant methylation of heparan sulfate glucosamine 3-O-sulfotransferase 2 genes as a biomarker in colorectal cancer. Anticancer Res (2010) 1.18
Very low pandemic influenza A (H1N1) 2009 mortality associated with early neuraminidase inhibitor treatment in Japan: analysis of 1000 hospitalized children. J Infect (2011) 1.17
Standardized centile curves of body mass index for Japanese children and adolescents based on the 1978-1981 national survey data. Ann Hum Biol (2006) 1.16
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes (2011) 1.15
Control of aging and longevity by IGF-I signaling. Exp Gerontol (2005) 1.14
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab (2006) 1.13
Identification of platelet receptors for the Streptococcus gordonii DL1 sialic acid-binding adhesin. Microbiol Immunol (2005) 1.13
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) (2004) 1.12
Randomized controlled trial of magnesium sulfate infusion for severe birth asphyxia. Pediatr Int (2002) 1.12
Steroid supplementation: a legitimate pharmacotherapy after neonatal open heart surgery. Ann Thorac Surg (2005) 1.10
Size distribution of retrovirally marked lineages matches prediction from population measurements of cell cycle behavior. J Neurosci Res (2002) 1.08
Open heart surgery for small children without homologous blood transfusion by using remote pump head system. Ann Thorac Surg (2004) 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
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A (2004) 1.08
Charge-transport in tin-iodide perovskite CH3NH3SnI3: origin of high conductivity. Dalton Trans (2011) 1.07
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet (2005) 1.05
Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol (2005) 1.05
Brain transplantation of genetically engineered human neural stem cells globally corrects brain lesions in the mucopolysaccharidosis type VII mouse. J Neurosci Res (2003) 1.05
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One (2013) 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
Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography. Cardiovasc Diabetol (2007) 1.03
Efficacy, safety, and pharmacokinetics of intravenous peramivir in children with 2009 pandemic H1N1 influenza A virus infection. Antimicrob Agents Chemother (2011) 1.02
Altered patterns of neuron production in the p27 knockout mouse. Dev Neurosci (2005) 1.02
Position-specific expression of Hox genes along the gastrointestinal tract. Congenit Anom (Kyoto) (2004) 1.02
Ten-year experience with handmade trileaflet polytetrafluoroethylene valved conduit used for pulmonary reconstruction. J Thorac Cardiovasc Surg (2008) 1.00
A neonate with umbilical arteriovenous malformation showing hemorrhagic shock from massive umbilical hemorrhage. Am J Perinatol (2009) 1.00
A case of esophageal adenocarcinoma arising from the ectopic gastric mucosa in the thoracic esophagus. Rare Tumors (2010) 1.00
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol (Oxf) (2013) 1.00
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. J Clin Endocrinol Metab (2009) 1.00
Coronary artery disease and a functional polymorphism of hTERT. Biochem Biophys Res Commun (2006) 1.00
Protein-losing enteropathy caused by gastrointestinal tract-involved Langerhans cell histiocytosis. Pediatrics (2010) 0.99
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res (2006) 0.99
Pre-B cell antigen receptor-mediated signal inhibits CD24-induced apoptosis in human pre-B cells. J Immunol (2003) 0.99
Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A (2006) 0.99
Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet (2002) 0.99
The roles of surgical oncologists in the new era: minimally invasive surgery for early gastric cancer and adjuvant surgery for metastatic gastric cancer. Pathobiology (2011) 0.99
Hsa, an adhesin of Streptococcus gordonii DL1, binds to alpha2-3-linked sialic acid on glycophorin A of the erythrocyte membrane. Microbiol Immunol (2008) 0.99
Sudden cardiac arrest associated with an anomalous aortic origin of the left coronary artery from the opposite sinus of valsalva. Intern Med (2014) 0.98
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A (2012) 0.98
Retracted Aberrant methylation of Reprimo in lung cancer. Lung Cancer (2005) 0.97
Genetic regulation of proliferation/differentiation characteristics of neural progenitor cells in the developing neocortex. Brain Dev (2009) 0.96
22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome? Am J Med Genet A (2007) 0.96
Population dynamics during cell proliferation and neuronogenesis in the developing murine neocortex. Results Probl Cell Differ (2002) 0.95
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. Am J Med Genet A (2013) 0.95
Presence of simian virus 40 DNA sequences in human lymphoid and hematopoietic malignancies and their relationship to aberrant promoter methylation of multiple genes. Cancer Res (2004) 0.95
PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet (2012) 0.95
Binding of the Streptococcus gordonii DL1 surface protein Hsa to the host cell membrane glycoproteins CD11b, CD43, and CD50. Infect Immun (2008) 0.95
Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr J (2005) 0.94
Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Res A Clin Mol Teratol (2007) 0.94