Hayasaka Kiyoshi | Department Of Pediatrics Yamagata University Faculty Of Medicine

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概要

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著作論文

Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
Human CD4^+ central and effector memory T cells produce IL-21 : effect on cytokine-driven proliferation of CD4^+ T cell subsets
Mutation analysis of phenylketonuria in Yamagata prefecture, Japan
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : unequal sister chromatid exchange during paternal gametogenesis
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene : The common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
Prader-Willi syndrome in a child with XYY
Mild immunoglobulin A nephropathy in a patient with a marked increase in serum immunoglobulin A
Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia
CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen
Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome
Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease
Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor δ2 autoantibody
A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor δ2
Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy
Beraprost sodium for pulmonary hypertension with congenital heart disease
Management of Functional Pulmonary Atresia with Isoproterenol in a Neonate with Ebstein's Anomaly
Microangiopathic Hemolytic Anemia and Thrombocytopenia in a Child with Atrial Septal Defect and Pulmonary Hypertension
A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy
A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724:A>C is associated with 7-alanine expansion
Phenotypic variability in a family with Townes-Brocks syndrome
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms : 211G>A (G71R) mutation becomes a risk factor under inadequate feeding
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan

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