Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
スポンサーリンク
概要
- 論文の詳細を見る
- 2002-12-01
著者
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Kishino T
Department Of Pediatrics Nagasaki University School Of Medicine
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Kondoh Tatsuro
長崎大学 医学部小児科
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Kondoh Tatsuro
長崎大学 看
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Kondoh Tatsuro
長崎大学 医歯薬学研究科人類遺伝学
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Kondoh Tatsuro
東北大学 医学部遺伝病学分野
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Niikawa Norio
長崎大学 医歯薬学総合研究科人類遺伝学
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Niikawa N
The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido
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Matsumoto Tadashi
Department Of Pediatrics Nagasaki University School Of Medicine
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MORIUCHI Hiroyuki
Department of Pediatrics, Nagasaki University School of Medicine
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NIIKAWA Norio
Department of Human Genetics, Nagasaki University School of Medicine
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Kudo T
Department Of Medical Genetics Tohoku University School Of Medicine
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Niikawa Norio
Department Of Human Genetics Nagasaki University School Of Medicine
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Niikawa Norio
Department Of Human Genetics Graduate School Of Biomedical Sciences Nagasaki University
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KONDOH Tatsuro
Genetic Counseling Unit, Nagasaki University Hospital
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MATSUMOTO Tadashi
Genetic Counseling Unit, Nagasaki University Hospital
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IZUMI Shizuko
Genetic Counseling Unit, Nagasaki University Hospital
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ISHIMARU Tadayuki
Genetic Counseling Unit, Nagasaki University Hospital
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Ishimaru Tadayuki
Genetic Counseling Unit Nagasaki University Hospital
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Kudo Takayuki
Department Of Otorhinolaryngology Tohoku University School Of Medicine
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Matsuzaka Tetsuo
Division Of Pediatrics Nagasaki Prefectural Center Of Medicine And Welfare For Children
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Matsuzaka Tetsuo
Department Of Pediatrics Nagasaki University School Of Medicine
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Moriuchi Hiroyuki
Department Of Pediatrics Nagasaki University School Of Medicine
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Moriuchi Hiroyuki
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences
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Kayashima Tomohiko
Department Of Human Genetics Nagasaki University School Of Medicine
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Izumi Shizuko
Genetic Counseling Unit Nagasaki University Hospital
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Matsumoto Tadashi
Genetic Counseling Unit Nagasaki University Hospital
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Tagawa Masato
Department Of Pediatrics Nagasaki University Hospital
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Kondoh Tatsuro
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences
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Moriuchi Hiroyuki
Department Of Molecular Microbiology And Immunology Nagasaki University Graduate School Of Biomedica
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Matsumoto Tadashi
Division Of Pediatrics Nagasaki Prefectural Center Of Medicine And Welfare For Children
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Matsumoto Tadashi
長崎大学 看
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Matsumoto Hiroshi
Department Of Pediatrics National Defense Medical College
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Matsumoto Tadashi
School Of Allied Medical Sciences Nagasaki University
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Moriuchi Hiroyuki
Department Of Pediatrics Kumamoto University Graduate School Of Medical Science
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Tsuda Masayoshi
Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences
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MORIUCHI Hiroyuki
Department of Pediatrics, Kumamoto University Graduate School of Medical Science
関連論文
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
- Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
- 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
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
- Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
- A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family
- A Japanese patient with a mild Lenz-Majewski syndrome
- Expression of the Snurf-Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain
- The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
- Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
- Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
- A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- Renal tubular dysgenesis complicated with severe cranium hypoplasia
- 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?
- Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
- Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
- 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
- Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
- 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
- Differential T-cell response in a young child and neonates with toxic shock syndrome
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
- Pediatric CT scan usage in Japan : results of a hospital survey
- A Case of Basal Cell Adenocarcinoma of the Parotid Gland
- A Case of Leiomyosarcoma of the Sphenoid Sinus
- 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
- Review Article Children with Chronic Granulomatous Disease
- A SacII polymorphism in the human ASCL2 (HASH2) gene region
- A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
- A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
- Autosomal dominant onychodystrophy and congenital sensorineural deafness
- A severe case of Moebius syndrome with calcification on the fourth ventricular floor
- New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
- A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
- Epidemiological and clinical studies of West syndrome in Nagasaki
- Developmental Assessment-Based Surgical Intervention for Intractable Epilepsies in Infants and Young Children
- A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
- Quantitative EEG Analyses and Surgical Outcome After Corpus Callosotomy
- A Hhal/BstUl polymorphism in a novel gene at human chromosome 11p15.5
- Acute pancreatitis associated with systemic lupus erythematosus: Successful treatment with plasmapheresis followed by aggressive immunosuppressive therapy.
- Novel germline mutation in the RB1 gene with multifocal bone tumors following retinoblastoma
- Miller Fisher syndrome with transient coma : comparison with Bickerstaff brainstem encephalitis
- Maternal Uniparental Disomy for Chromosome 14 with Diabetes Mellitus
- The calming effect of a maternal breast milk odor on the human newborn infant
- Severe subaortic stenosis that progressed over a 12-year period after cardiac surgery
- Case with Small Testes Associated with Skeletal Dysplasia
- PROP1 Abnormality
- Detection of cytomegalovirus in preserved umbilical cord from a boy with autistic disorder
- 長崎県妊婦におけるサイトメガロウイルス感染の血清疫学的調査
- Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
- Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
- Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
- 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
- Multiple Immune Abnormalities in a Patient with Idiopathic CD4+ T-Lymphocytopenia
- 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.
- Population based cohort study for Pediatric Infectious Diseases research in Vietnam
- An elderly patient with chronic active Epstein-Barr virus infection with mixed cryoglobulinemia and review of the literature