Niikawa Norio | Department Of Human Genetics Graduate School Of Biomedical Sciences Nagasaki University

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著作論文

FISH MAPPING OF A TRANSLOCATION BREAKPOINT AT 6q21 (OR q22) IN A PATIENT WITH HETEROTAXIA
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese : population-based and family-based candidate gene analyses
The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway
Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
Phenotype-genotype correlation in two patients with 12q proximal deletion
On the conflicting reports of imprinting status of mouse ATPIOa in the adult brain : strain-background-dependent imprinting?
GENOMIC IMPRINTING AND ITS RELEVANCE TO GENETIC DISEASES
Monozygotic Twins with Discordant Sexual Phenotypes due to Different Rations of Mosaicism of 47, X, idic(Y), idic(Y)/46, X, idic(Y)/45, X
ASSIGNMENT OF THE HUMAN CONNEXIN43 GENE, GJA1, TO CHROMOSOME 6q22.3
Contiguous Gene Syndromes as Multiple Anomalies Syndromes : Molecular Basis and Approach to Gene Cloning
4 Chromosome Aberration-based Positional Cloning of Cardiovascular Disease Genes(Perspectives of Genome-wide Study to Identify Genes Underlying Cardiovascular Diseases,Roundtable Discussion 10 (RT10) (M),The 70th Anniversary Annual Scientific Meeting of t
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus
THE GROWTH HORMONE RECEPTOR GENE MUTATION OF A JAPANESE PATIENT WITH LARON SYNDROME
Do monochorionic dizygotic twins increase after pregnancy by assisted reproductive technology?
TWO POLYMORPHIC AvaI AND HhaI SITES IN A DIFFERENTIALLY METHYLATED REGION OF THE HUMAN H19 GENE
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome
POLYMORPHIC AND TISSUE-SPECIFIC IMPRINTING OF THE HUMAN WILMS TUMOR GENE, WT1
Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION
Repeat-directed isolation of a novel gene preferentially expressed from the maternal allele in human placenta
A SacII polymorphism in the human ASCL2 (HASH2) gene region
A Hhal/BstUl polymorphism in a novel gene at human chromosome 11p15.5
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Identification and Characterization of a Gene Encoding an ABC Transporter Expressed in the Dicarboxylic Acid-Producing Yeast Candida maltosa
A 15-Year-Old Girl with Pubertal Masculinization due to Bilateral Gonadoblastoma and 45,X/46,X,+Mar Karyotype.

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