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Wyszukujesz frazę ""Mizuguchi, T."" wg kryterium: Autor


Tytuł :
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Autorzy :
Sekiguchi F; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Tsurusaki Y; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Teik KW; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Mizuno S; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
Suzumura H; Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
Isidor B; CHU Nantes, Service de Genetique Medicale, Nantes, France.
Ong WP; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Haniffa M; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Matsuo M; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Phadke S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Yap P; Genetic Health Service New Zealand, Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Goyal M; Rare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India.
Clarke LA; British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Leventer RJ; Royal Children's Hospital Department of Neurology, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Parkville, 3052, Australia.
Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Yamagata T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Hisaeda Y; Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan.
Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Shimizu K; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
Nagasaki K; Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Hamada J; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Sato T; Asahikawa-Kosei General Hospital, Hokkaido, Japan.
Chinen Y; Department of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
Awaya T; Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kato T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Iwanaga K; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kawai M; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Matsuoka T; Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
Shimoji Y; Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Kapoor S; Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
Gregersen N; Genetic Health Service New Zealand, Auckland, New Zealand.
Rossi M; Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
Marie-Laure M; Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France.
McGregor L; South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia.
Oishi K; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
Coman D; Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia.
Kim OH; Department of Radiology, Ajou University Hospital, Suwon, Korea.
Cordier MP; Service de Genetique, Hospices Civils de Lyon, Bron, France.
Gibson K; Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Liebelt J; South Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia.
Cox H; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK.
El Chehadeh S; Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France.
Toutain A; Service de Genetique, CHRU de Tours, Tours, France.
Saida K; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Aoi H; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Minase G; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Tsuchida N; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Iwama K; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Uchiyama Y; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
Suzuki T; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Hamanaka K; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Azuma Y; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Fujita A; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Imagawa E; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Koshimizu E; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
Mizuguchi T; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Dec; Vol. 64 (12), pp. 1173-1186. Date of Electronic Publication: 2019 Sep 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Face/*abnormalities
Genetic Predisposition to Disease/*genetics
Genetic Variation/*genetics
Hand Deformities, Congenital/*genetics
Intellectual Disability/*genetics
Micrognathism/*genetics
Neck/*abnormalities
Cohort Studies ; Genetic Association Studies/methods ; Humans
SCR Disease Name :
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł :
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
Autorzy :
Alkanaq AN; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Taguri M; Department of Data Science, Yokohama City University School of Data Science, 22-2 Seto, Kanazawa-ku, Yokohama, 236-0027, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Nov; Vol. 64 (11), pp. 1107-1116. Date of Electronic Publication: 2019 Aug 13.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
High-Throughput Nucleotide Sequencing*
DNA Copy Number Variations/*genetics
DNA, Mitochondrial/*genetics
Genome, Human/genetics ; Genotype ; Genotyping Techniques ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Autorzy :
Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ceroni JR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Kim VEH; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Furquim I; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Iwaki T; Department of Pediatrics, University Hospital, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Suzuki T; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeda S; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Itakura A; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Oct; Vol. 64 (10), pp. 967-978. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Autorzy :
Oda Y; Department of Pediatrics, Chigasaki Municipal Hospital, Chigasaki, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Motomura A; Department of Pediatrics, Chigasaki Municipal Hospital, Chigasaki, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Harita Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Ogata H; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Matsubara Y; National Research Institute for Child Health and Development, Tokyo, Japan.
Wakui K; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Oct; Vol. 64 (10), pp. 1005-1014. Date of Electronic Publication: 2019 Jul 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Autorzy :
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Pastorino AC; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Ceroni J; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Lima PP; Patologia Ocular, Divisão de Anatomia Patologica, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
de Barros Dorna M; Children's Institute, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Bertola D; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Sep; Vol. 64 (9), pp. 955-960. Date of Electronic Publication: 2019 Jun 18.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Loss of Function Mutation*
Developmental Disabilities/*genetics
Intestinal Diseases/*genetics
Primary Immunodeficiency Diseases/*genetics
Receptor-Interacting Protein Serine-Threonine Kinases/*genetics
Signal Transduction/*genetics
Child ; Humans ; Male
Czasopismo naukowe
Tytuł :
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Autorzy :
Saida K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Kim CA; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Ceroni JRM; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Bertola DR; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Honjo RS; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, SP, Brazil.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Sep; Vol. 64 (9), pp. 885-890. Date of Electronic Publication: 2019 Jul 04.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Amino Acid Sequence*
Sequence Deletion*
Arterial Occlusive Diseases/*genetics
Bone and Bones/*abnormalities
Brachydactyly/*genetics
Cell Cycle Proteins/*genetics
Heart Defects, Congenital/*genetics
Hypertension/*genetics
Hypertension, Renovascular/*genetics
Intracranial Hemorrhages/*genetics
Stroke/*genetics
Syndactyly/*genetics
Transcription Factors/*genetics
Arterial Occlusive Diseases/pathology ; Arterial Occlusive Diseases/physiopathology ; Bone and Bones/pathology ; Bone and Bones/physiopathology ; Brachydactyly/pathology ; Brachydactyly/physiopathology ; Child ; Female ; Heart Defects, Congenital/pathology ; Heart Defects, Congenital/physiopathology ; Homozygote ; Humans ; Hypertension/pathology ; Hypertension/physiopathology ; Hypertension, Renovascular/pathology ; Hypertension, Renovascular/physiopathology ; Intracranial Hemorrhages/pathology ; Intracranial Hemorrhages/physiopathology ; Stroke/pathology ; Stroke/physiopathology ; Syndactyly/pathology ; Syndactyly/physiopathology
SCR Disease Name :
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Czasopismo naukowe
Tytuł :
A novel de novo frameshift variant in SETD1B causes epilepsy.
Autorzy :
Den K; Department of Medical Life Science, Yokohama City University Faculty of Sciences, 1-7-29 Suehiro-cho, Tsurumi-ku, Yokohama, 230-0045, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, 142-8666, Japan.
Yamaguchi T; National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorder, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, 3-9- Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Aug; Vol. 64 (8), pp. 821-827. Date of Electronic Publication: 2019 May 20.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Frameshift Mutation*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Epilepsy/*diagnosis
Epilepsy/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Alleles ; Amino Acid Sequence ; Chromosome Deletion ; DNA Mutational Analysis ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Exons ; Female ; Gene Frequency ; Genotype ; Histone-Lysine N-Methyltransferase/chemistry ; Humans ; Male ; Pedigree ; Phenotype ; Protein Interaction Domains and Motifs
Czasopismo naukowe
Tytuł :
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Autorzy :
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. .
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Takahashi Y; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, 329-0498, Japan.
Nakamura K; Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
Tohyama J; Department of Child Neurology, NHO Nishiniigata Chuo Hospital, 1-14-1 Masago, Nishi-ku, Niigata, 950-2085, Japan.
Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai, 989-3126, Japan.
Takeshita S; Department of Pediatrics, Yokohama City University Medical Center, 4-57 Urafunecho, Minami-ku, Yokohama, 232-0024, Japan.
Kuki I; Department of Pediatric Neurology, Osaka City General Hospital, 2-13-22 Miyakojimahondori, Miyakojima-ku, Osaka, 534-0021, Japan.
Okanishi T; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Naka-ku, Hamamatsu, 430-8558, Japan.
Goto T; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan.
Sasaki M; Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, 187-8551, Japan.
Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Minase G; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Ohba C; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Den K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Takahashi R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Ikeda H; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Yamaguchi T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Tsukamoto K; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Yoshitomi S; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Oboshi T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Imai K; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, 886 Urushiyama, Aoi-ku, Shizuoka, 420-8688, Japan.
Kimizu T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi, Osaka, 594-1101, Japan.
Kobayashi Y; Department of Child Neurology, NHO Nishiniigata Chuo Hospital, 1-14-1 Masago, Nishi-ku, Niigata, 950-2085, Japan.
Kubota M; Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
Kashii H; Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
Baba S; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Naka-ku, Hamamatsu, 430-8558, Japan.
Iai M; Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, 232-8555, Japan.
Kira R; Department of Pediatric Neurology, Fukuoka Children's Hospital, 5-1-1 Kashiiteriha, Higashi-ku, Fukuoka, 813-0017, Japan.
Hara M; Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, 830-0011, Japan.
Ohta M; Department of Neuropediatrics, Aiseikai Memorial Ibaraki Welfare Medical Center, 1872-1 Motoyoshida-cho, Mito, 310-0836, Japan.
Miyata Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, 183-0042, Japan.
Miyata R; Department of Pediatrics, Tokyo-kita Medical Center, 4-17-56 Akabanedai, Kita-ku, Tokyo, 115-0053, Japan.
Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo, 276-8524, Japan.
Matsui J; Department of Pediatrics, Shiga University of Medical Science, Setatsukinowacho, Otsu, 520-2192, Japan.
Yokochi K; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, 3453 Mikatahara-cho, Kita-ku, Hamamatsu, 431-1304, Japan.
Shimono M; Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu, 807-8555, Japan.
Amamoto M; Kutakyushu Municipal Yahata Hospital Pediatric Emergency Center, 4-18-1 Nishihonmachi, Yahatahigashi-ku, Kutakyushu, 805-8534, Japan.
Takayama R; Hokkaido Medical Center for Child Health and Rehabilitation, 1-240-6 Kanayama 1-jo, Teine-ku, Sapporo, 006-0041, Japan.
Hirabayashi S; Division of Neurology, Nagano Children's Hospital, 3100 Toyoshina, Azumino, 399-8288, Japan.
Aiba K; Department of Pediatrics, Toyohashi Municipal Hospital, 50 Aza Hachiken Nishi, Aotake-Cho, Toyohashi, 441-8570, Japan.
Matsumoto H; Department of Pediatrics, National Defense Medical College, 3-2 Namiki, Tokorozawa, 359-8513, Japan.
Nabatame S; Department of Pediatrics, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, 565-0871, Japan.
Shiihara T; Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, 377-8577, Japan.
Kato M; Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.; Department of Pediatrics, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, 142-8666, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. .
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Źródło :
Nature communications [Nat Commun] 2019 Jun 07; Vol. 10 (1), pp. 2506. Date of Electronic Publication: 2019 Jun 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
MeSH Terms :
Genetic Variation*
Spasms, Infantile/*genetics
Adaptor Proteins, Vesicular Transport/genetics ; Asian Continental Ancestry Group/genetics ; Case-Control Studies ; DNA (Cytosine-5-)-Methyltransferases/genetics ; Epilepsies, Myoclonic/genetics ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Infant ; Japan ; Lennox Gastaut Syndrome/genetics ; Logistic Models ; Mutation ; Neurofibromin 1/genetics ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; TRPM Cation Channels/genetics ; Whole Exome Sequencing
SCR Disease Name :
Epileptic Encephalopathy, Early Infantile, 3; Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Autorzy :
Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Lei M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nishioka N; Department of Obstetrics and Gynecology, Koshigaya Municipal Hospital, Saitama, Japan.
Goto T; Department of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
Miyama S; Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
Suzuki T; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Itakura A; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Takeda S; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 May; Vol. 64 (5), pp. 487-492. Date of Electronic Publication: 2019 Feb 14.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Codon, Nonsense*
Mutation, Missense*
Abnormalities, Multiple/*genetics
Antigens, Nuclear/*genetics
Abnormalities, Multiple/pathology ; Child ; Female ; Humans ; Male ; Sex Factors
Czasopismo naukowe
Tytuł :
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.
Autorzy :
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Suzuki T; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Aichi, 480-0392, Japan.
Abe C; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Aichi, 480-0392, Japan.
Umemura A; Division of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Aichi, 480-0392, Japan.
Tokunaga K; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
Kawai Y; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
Nakamura M; Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical Center, Omura, 856-8562, Japan.
Nagasaki M; Division of Biomedical Information Analysis, Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan.
Kinoshita K; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, 980-8573, Japan.; Graduate School of Information Sciences, Tohoku University, Sendai, 980-8579, Japan.
Okamura Y; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, 980-8573, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 May; Vol. 64 (5), pp. 359-368. Date of Electronic Publication: 2019 Feb 13.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Base Sequence*
Codon, Initiator*
Gene Deletion*
Mutagenesis, Insertional*
Membrane Proteins/*genetics
Myoclonic Epilepsies, Progressive/*genetics
Adolescent ; Adult ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
Autorzy :
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Moey LH; Genetic Department, Kuala Lumpur Hospital, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.
Ch'ng GS; Genetic Department, Kuala Lumpur Hospital, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.
Khoo TB; Paediatric Department, Paediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Apr; Vol. 64 (4), pp. 347-350. Date of Electronic Publication: 2019 Jan 09.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Adaptor Protein Complex alpha Subunits/*genetics
Seizures/*genetics
Spasms, Infantile/*genetics
Brain/diagnostic imaging ; Brain/physiopathology ; Homozygote ; Humans ; Infant ; Male ; Mutation ; Seizures/diagnostic imaging ; Seizures/physiopathology ; Spasms, Infantile/diagnostic imaging ; Spasms, Infantile/physiopathology
SCR Disease Name :
Infantile Epileptic-Dyskinetic Encephalopathy
Czasopismo naukowe
Tytuł :
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.
Autorzy :
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
Toyota T; Department of Neurology, University of Occupational and Environmental Health School of Medicine, Kitakyushu, 807-8555, Japan.
Adachi H; Department of Neurology, University of Occupational and Environmental Health School of Medicine, Kitakyushu, 807-8555, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2019 Mar; Vol. 64 (3), pp. 191-197. Date of Electronic Publication: 2018 Dec 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genome, Human*
Introns*
Mutagenesis, Insertional*
Epilepsies, Myoclonic/*genetics
Repressor Proteins/*genetics
Sequence Analysis, DNA/*methods
Whole Genome Sequencing/*methods
Adolescent ; Female ; Humans ; Male ; Pedigree ; Prognosis
Czasopismo naukowe
Tytuł :
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.
Autorzy :
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Zerem A; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Lev D; Institute of Medical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Blumkin L; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Yokochi K; Department of Pediatric Neurology, Mikatahara General Hospital, Hamamatsu, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
van der Knaap MS; Department of Child Neurology, VU University Medical Centre, Amsterdam, Netherlands.
Lerman-Sagie T; Pediatric Neurology Unit, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, and Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Dec; Vol. 63 (12), pp. 1223-1229. Date of Electronic Publication: 2018 Sep 27.
Typ publikacji :
Clinical Trial; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Phenotype*
Carrier Proteins/*genetics
Hereditary Central Nervous System Demyelinating Diseases/*genetics
Adult ; Female ; Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging ; Humans ; Male
Czasopismo naukowe
Tytuł :
A novel SLC9A1 mutation causes cerebellar ataxia.
Autorzy :
Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Ikeda T; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ito S; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1049-1054. Date of Electronic Publication: 2018 Jul 17.
Typ publikacji :
Case Reports; Clinical Trial; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Cerebellar Ataxia/*genetics
Sodium-Hydrogen Exchanger 1/*genetics
Adolescent ; Adult ; Cerebellar Ataxia/diagnostic imaging ; Cerebellar Ataxia/physiopathology ; Child ; Child, Preschool ; Female ; Humans ; Male ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
Autorzy :
Fukuda H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Kramer U; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Fattal-Valevski A; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło :
Journal of human genetics [J Hum Genet] 2018 May; Vol. 63 (5), pp. 673-676. Date of Electronic Publication: 2018 Feb 28.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation, Missense*
Siblings*
Cerebellar Ataxia/*diagnosis
Cerebellar Ataxia/*genetics
Seizures/*diagnosis
Seizures/*genetics
Synaptosomal-Associated Protein 25/*genetics
Alleles ; Child ; Child, Preschool ; DNA Mutational Analysis ; Electroencephalography ; Female ; Genetic Association Studies ; Genotype ; Humans ; Israel ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
Autorzy :
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nasiri J; Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, 8174675346, Iran.
Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran.
Salehi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, 8174675731, Iran.
Hosseinzadeh M; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, 1417613151, Iran.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, 594-1101, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan.
Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Apr; Vol. 63 (4), pp. 487-491. Date of Electronic Publication: 2018 Feb 06.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Phenotype*
Craniofacial Abnormalities/*diagnosis
Craniofacial Abnormalities/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Minor Histocompatibility Antigens/*genetics
Tumor Suppressor Proteins/*genetics
Brain/abnormalities ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Consanguinity ; Female ; Genetic Association Studies ; Humans ; Magnetic Resonance Imaging ; Male ; Pedigree ; Siblings ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
Autorzy :
Suzuki T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Behnam M; Medical Genetics Center of Genome, Isfahan, Iran.
Ronasian F; Medical Genetics Center of Genome, Isfahan, Iran.
Salehi M; Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Takeda S; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Apr; Vol. 63 (4), pp. 425-430. Date of Electronic Publication: 2018 Feb 13.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Homozygote*
Mutation*
Abortion, Habitual/*diagnosis
Abortion, Habitual/*genetics
Nuclear Proteins/*genetics
Alleles ; Amino Acid Substitution ; Chromosome Mapping ; Consanguinity ; DNA Copy Number Variations ; Female ; Humans ; Iran ; Pedigree ; Phenotype ; Pregnancy ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Autorzy :
Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Takaori T; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Fukushima A; Niigata Prefecture Hamagumi Medical Rehabilitation Center for Disabled Children, Niigata, Japan.
Tohyama J; Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Ohba C; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Ito S; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Mar; Vol. 63 (3), pp. 263-270. Date of Electronic Publication: 2018 Jan 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genes, Recessive*
Mutation*
Cell Cycle Proteins/*genetics
Cerebellar Diseases/*diagnosis
Cerebellar Diseases/*genetics
Cytoskeletal Proteins/*genetics
Retinitis Pigmentosa/*diagnosis
Retinitis Pigmentosa/*genetics
Adolescent ; Age of Onset ; Alleles ; Atrophy ; Cell Line ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
A novel mutation in SLC1A3 causes episodic ataxia.
Autorzy :
Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Iwata A; Department of Pediatrics, Kobe City Nishi-Kobe Medical Center, 5-7-1 Kojidai, Nishi-ku, Kobe, 651-2273, Japan.
Shiina M; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Ogata K; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Ito S; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.; Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. .
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Źródło :
Journal of human genetics [J Hum Genet] 2018 Feb; Vol. 63 (2), pp. 207-211. Date of Electronic Publication: 2017 Dec 05.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation, Missense*
Ataxia/*genetics
Excitatory Amino Acid Transporter 1/*genetics
Amino Acid Substitution ; Child ; Excitatory Amino Acid Transporter 1/chemistry ; Humans ; Male ; Models, Molecular
SCR Disease Name :
Episodic Ataxia
Czasopismo naukowe
Tytuł :
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
Autorzy :
Minase G; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.; Department of Obstetrics and Gynecology, Asahikawa Medical University, Hokkaido, Japan.
Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Nabatame S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Arai H; Department of Pediatric Neurology, Morinomiya Hospital, Osaka, Japan.
Koshimizu E; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Sizuoka, Japan.
Miyamoto T; Department of Obstetrics and Gynecology, Asahikawa Medical University, Hokkaido, Japan.
Sengoku K; Department of Obstetrics and Gynecology, Asahikawa Medical University, Hokkaido, Japan.
Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
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Źródło :
Journal of human genetics [J Hum Genet] 2017 Nov; Vol. 62 (11), pp. 997-1000. Date of Electronic Publication: 2017 Jul 20.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Cytochrome P450 Family 2/*genetics
Demyelinating Diseases/*genetics
Intellectual Disability/*genetics
Spastic Paraplegia, Hereditary/*genetics
Child, Preschool ; Demyelinating Diseases/complications ; Demyelinating Diseases/diagnostic imaging ; Demyelinating Diseases/pathology ; Humans ; Intellectual Disability/complications ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/pathology ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/complications ; Spastic Paraplegia, Hereditary/diagnostic imaging ; Spastic Paraplegia, Hereditary/pathology
Czasopismo naukowe

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