Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
スポンサーリンク
概要
- 論文の詳細を見る
- 1998-06-01
著者
-
Niikawa Norio
長崎大学 医歯薬学総合研究科人類遺伝学
-
FUJIMOTO Masahiro
Department of Human Genetics, Nagasaki University School of Medicine
-
NIIKAWA Norio
Department of Human Genetics, Nagasaki University School of Medicine
-
Niikawa Norio
Department Of Human Genetics Graduate School Of Biomedical Sciences Nagasaki University
-
TOMITA Hiroaki
Department of Human Genetics, Nagasaki University School of Medicine
-
MIYOSHI Osamu
Department of Human Genetics, Nagasaki University School of Medicine
-
HAYASHI Satoshi
Department of Obstetrics and Gynecology, Hiroshima Prefectural Hospital
-
SOHDA Masakazu
Kyushu Medical Science, Nagasaki Laboratory
-
TOMITA Hiroyuki
Tumor Suppression and the Functional Genomics Project, National Cancer Center Research Institute
-
Fujimoto M
Department Of Human Genetics Nagasaki University School Of Medicine
-
Tomita Hiro-aki
Nagasaki Prefectural Medical Health Center
-
Fujimoto Masahiro
Department Of Electrical Engineering Faculty Of Engineering University Of Tokyo:tokyo Shibaura Elect
-
Miyoshi Osamu
Department Of Human Genetics Nagasaki University School Of Medicine
-
Sohda Masakazu
Kyushu Medical Science Nagasaki Laboratory
-
Niikawa N
Department Of Human Genetics Nagasaki University School Of Medicine
-
Tomita Hiroyuki
Tumor Suppression And The Functional Genomics Project National Cancer Center Research Institute
-
Hayashi Satoshi
Department Of Obstetrics And Gynecology National Center For Child Health And Development
-
Tomita Hiroaki
Department Of Biology Psychiatry Tohoku University Graduate School Of Medicine Tohoku University
-
Hayashi Satoshi
Department Of Applied Chemistry Faculty Of Engineering Doshisha University
-
Hayashi Satoshi
Department Of Obstetrics And Gynecology Hiroshima Prefectural Hospital
-
Tomita Hiroaki
Department Of Biological Psychiatry Tohoku University Graduate School Of Medicine
関連論文
- 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
- A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
- 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
- LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
- 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
- Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
- 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)
- Guidelines for genetic testing
- A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR)
- 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
- Detection of allelic imbalance in the gene expression of hMSH2 or RB1 in lymphocytes from pedigrees of hereditary, nonpolyposis, colorectal cancer and retinoblastoma by an RNA difference plot
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
- Immunocytochemical study of activin type IB receptor (XALK4) in Xenopus oocytes
- A Phenotypically Normal Liveborn Male after Prenatal Diagnosis of Trisomy 20 Mosaicism
- DETECTION OF CHROMOSOMAL ABNORMALITIES OF CHROMOSOME 12 IN UTERINE LEIOMYOMA USING FLUORESCENCE IN SITU HYBRIDIZATION
- Method for estimating buoyancy of midwater float required to standardize hook depth in pelagic longline
- 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
- Iodine Doping in ZnSe in High-Temperature Range by Metalorganic Vapor-Phase Epitaxy
- A SacII polymorphism in the human ASCL2 (HASH2) gene region
- The Energetic Particle Spectrometer HEP onboard the GEOTAIL Spacecraft
- Effect of Dielectric Slab on Millimeter Wave Propagation in Solid-State Plasma Waveguide
- SEQUENTIAL DATA COMPRESSION WITH DOUBLE TRACING METHOD
- Rotational Isomerism and Structure of the 1-Butyl-3-methylimidazolium Cation in the Ionic Liquid State
- Crystal Structure of 1-Butyl-3-methylimidazolium Chloride. A Clue to the Elucidation of the Ionic Liquid Structure
- Raman Spectra, Crystal Polymorphism, and Structure of a Prototype Ionic-liquid [bmim]Cl
- Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood : trisomy 9 mosaicism
- Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes
- A Hhal/BstUl polymorphism in a novel gene at human chromosome 11p15.5
- Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
- Resection of a Chondrosarcoma Arising in the Right First Rib : A Case Report
- Effect of Chronic Lithium Treatment on Gene Expression Profile in Mouse Microglia and Brain Dendritic Cells
- Sentinel Lymph Node Biopsy in Patients with Male Breast Carcinoma : Report of Two Cases
- Discovery of a Magnetic Ionic Liquid [bmim]FeCl_4
- Biosynthesis of Alterporriol A by Alternaria porri
- Effects of a Fear of Falling on Patients Undergoing Surgery for a Fracture of the Proximal Femur and Factors Leading to the Elimination of that Fear
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
- A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
- Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- 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.
- Photodynamic Diagnoses of Malignant Pleural Diseases Using the Autofluorescence Imaging System