Published in J Clin Endocrinol Metab on July 01, 2004
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Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab (2002) 4.17
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Gene expression profile in the regenerating rat liver after partial hepatectomy. J Hepatol (2003) 2.43
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The cytoplasmic shuttling and subsequent degradation of p27Kip1 mediated by Jab1/CSN5 and the COP9 signalosome complex. J Biol Chem (2001) 2.16
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Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines. Br J Haematol (2004) 1.70
The radiotoxicity of 131I therapy of thyroid cancer: assessment by micronucleus assay of B lymphocytes. J Nucl Med (2004) 1.68
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Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab (2002) 1.67
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab (2002) 1.66
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet (2010) 1.66
A simple diagnostic test using GH-releasing peptide-2 in adult GH deficiency. Eur J Endocrinol (2007) 1.65
Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol (2005) 1.65
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Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J Clin Endocrinol Metab (2004) 1.63
Imaging exocytosis of single insulin secretory granules with evanescent wave microscopy: distinct behavior of granule motion in biphasic insulin release. J Biol Chem (2001) 1.61
A genome-wide association study identifies three new risk loci for Kawasaki disease. Nat Genet (2012) 1.58
Continuous and high-dose cytarabine combined chemotherapy in children with down syndrome and acute myeloid leukemia: Report from the Japanese children's cancer and leukemia study group (JCCLSG) AML 9805 down study. Pediatr Blood Cancer (2010) 1.57
Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol (2011) 1.57
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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
Hemophagocytic lymphohistiocytosis associated with uncontrolled inflammatory cytokinemia and chemokinemia was caused by systemic anaplastic large cell lymphoma: a case report and review of the literature. J Pediatr Hematol Oncol (2008) 1.52
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertil Steril (2004) 1.52
Murine tumor necrosis factor α-induced adipose-related protein (tumor necrosis factor α-induced protein 9) deficiency leads to arthritis via interleukin-6 overproduction with enhanced NF-κB, STAT-3 signaling, and dysregulated apoptosis of macrophages. Arthritis Rheum (2012) 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
High humidity induces abscisic acid 8'-hydroxylase in stomata and vasculature to regulate local and systemic abscisic acid responses in Arabidopsis. Plant Physiol (2008) 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
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. J Hum Genet (2012) 1.50
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
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int (2010) 1.46
SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int (2012) 1.46
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
A successfully treated case of blunt traumatic right coronary ostium rupture. Ann Thorac Surg (2003) 1.43
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Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency. Fertil Steril (2010) 1.42
Late-onset circulatory dysfunction after thyroid hormone treatment in an extremely low birth weight infant. J Pediatr Endocrinol Metab (2010) 1.42
Genetic analysis of patients with defects in early B-cell development. Immunol Rev (2005) 1.41
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood (2010) 1.40
Two-step transplantation for primary hyperoxaluria: a winning strategy to prevent progression of systemic oxalosis in early onset renal insufficiency cases. Pediatr Transplant (2014) 1.40
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients. Horm Res Paediatr (2013) 1.40
Olanzapine for the treatment of borderline personality disorder: variable dose 12-week randomised double-blind placebo-controlled study. Br J Psychiatry (2008) 1.40
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat (2003) 1.38
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency. Metabolism (2010) 1.37
Comparison of two assays for fibroblast growth factor (FGF)-23. J Bone Miner Metab (2005) 1.36
Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis (2003) 1.36
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet (2010) 1.35
Hyperkalemia and hyperdopaminemia induced by an obsessive eating of banana in an anorexia nervosa adolescent. Brain Dev (2006) 1.34
Distal colorectal cancers with microsatellite instability (MSI) display distinct gene expression profiles that are different from proximal MSI cancers. Cancer Res (2006) 1.32
The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet (2013) 1.31
Prediction of sensitivity of rectal cancer cells in response to preoperative radiotherapy by DNA microarray analysis of gene expression profiles. Cancer Res (2006) 1.30
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
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Antipruritic activity of the kappa-opioid receptor agonist, TRK-820. Eur J Pharmacol (2002) 1.26
Rationale and study design of the Japan environment and children's study (JECS). BMC Public Health (2014) 1.26
Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet (2010) 1.25
The kinase Btk negatively regulates the production of reactive oxygen species and stimulation-induced apoptosis in human neutrophils. Nat Immunol (2012) 1.25
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab (2010) 1.22
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr (2012) 1.20
Common variants in CASP3 confer susceptibility to Kawasaki disease. Hum Mol Genet (2010) 1.20
Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis (2011) 1.20
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19