Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Kenji Naritomi"'
Autor:
Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His f
Externí odkaz:
https://doaj.org/article/d944f351a5164a32a378e289fbbd4bb4
Autor:
Motoko Kamiya, Noriko Nakayama, Tadashi Kaname, Sadao Nakamura, Kumiko Yanagi, Yasutsugu Chinen, Kenji Naritomi, Koichi Nakanishi, Mami Nakayashiro
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)
Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d800265aa373c6d0d42dd3bb70932cf9
http://hdl.handle.net/20.500.12000/47023
http://hdl.handle.net/20.500.12000/47023
Autor:
Tadashi Kaname, Koichi Nakanishi, Kenji Naritomi, Yasutsugu Chinen, Kumiko Yanagi, Shin Hayashi, Akira Ganaha, Sadao Nakamura, Johji Inazawa
Publikováno v:
Clinical Case Reports
A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69086bc9dba7d9f56286e5a70566d627
https://doi.org/10.1002/ccr3.1361
https://doi.org/10.1002/ccr3.1361
Autor:
Yasutsugu Chinen, Tadashi Kaname, Kumiko Yanagi, Koichi Nakanishi, Mami Nakayashiro, Takuya Kaneshi, Kenji Naritomi, Sadao Nakamura
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe9a59d027f06b7648e3518a32984fad
http://hdl.handle.net/20.500.12000/45906
http://hdl.handle.net/20.500.12000/45906
Autor:
Yasutsugu, Chinen, Kumiko, Yanagi, Sadao, Nakamura, Noriko, Nakayama, Motoko, Kamiya, Mami, Nakayashiro, Tadashi, Kaname, Kenji, Naritomi, Koichi, Nakanishi
Publikováno v:
Human Genome Variation
Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fb29c2afd3943327281f50fc88aab254
https://pubmed.ncbi.nlm.nih.gov/32337051
https://pubmed.ncbi.nlm.nih.gov/32337051
Autor:
Tadashi Kaname, Takashi Tokashiki, Koichi Nakanishi, Kenji Naritomi, Yasutsugu Chinen, Kumiko Yanagi, Sadao Nakamura, Kazuhito Satou, Satoko Kumada
Publikováno v:
European Journal of Medical Genetics. 63:104057
Here, we present the case of a 15-year-old Japanese girl with Dystonia 28, childhood-onset; DYT28 (MIM#606834) showing early-onset generalized progressive dystonia and status dystonicus. The patient was genetically undiagnosed and had not responded t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a75af9e25367a6c5bd1cc4a527f08c3
https://doi.org/10.1016/j.ejmg.2020.104057
https://doi.org/10.1016/j.ejmg.2020.104057
Autor:
Claudia Maria Rodrigues Alves, Ricardo Peressoni Faraco, Elisabeth Tomoko Takitani, José Victor Kairiyama, Manfredo Kenji Naritomi, Manuel Pereira Marques Gomes
Publikováno v:
Revista Brasileira de Cardiologia Invasiva. 22:102-106
Inadequate anastomosis of aorto-coronary grafts to the coronary venous system represent an infrequent but potentially serious complication of coronary artery bypass surgery. Different surgical techniques and percutaneous devices have been described f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb9956c3b6ead4c0202074751379c751
https://doi.org/10.1590/0104-1843000000017
https://doi.org/10.1590/0104-1843000000017
Autor:
Claudia Maria Rodrigues Alves, Ricardo Peressoni Faraco, Elisabeth Tomoko Takitani, José Victor Kairiyama, Manfredo Kenji Naritomi, Manuel Pereira Marques Gomes
Publikováno v:
Revista Brasileira de Cardiologia Invasiva (English Edition). 22(1):102-106
Inadequate anastomosis of aorto-coronary grafts to the coronary venous system represents an infrequent but potentially serious complication of coronary artery bypass surgery. Different surgical techniques and percutaneous devices have been described
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8ca3b0a02e9c7523fdbeb0a35ede20
Autor:
Toshimichi Yamamoto, Yumiko Suto, Momoki Hirai, Hiroki Oota, Kumiko Yanagi, Keiichi Omoto, Nao Nishida, Shuhei Mano, Atsushi Tajima, Hideyuki Tanabe, Tadashi Kaname, Katsushi Tokunaga, Naruya Saitou, Timothy A. Jinam, Shoji Kawamura, Norio Niikawa, Kazuo Umetsu, Jun Ohashi, Kenji Naritomi, Ryosuke Kimura
Publikováno v:
Journal of Human Genetics. 57:787-795
The Japanese Archipelago stretches over 4000 km from north to south, and is the homeland of the three human populations; the Ainu, the Mainland Japanese and the Ryukyuan. The archeological evidence of human residence on this Archipelago goes back to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e9a6763a7552b729c6599188f1a276
https://doi.org/10.1038/jhg.2012.114
https://doi.org/10.1038/jhg.2012.114
Autor:
Deshung Liang, Anita E. Beck, Joseph Cook, Tadashi Matsumoto, Kati J. Buckingham, Siddharth Banka, Toshiro Nagai, Koh-ichiro Yoshiura, Hidefumi Tonoki, Kenji Kurosawa, Jia Woei Hou, Heidi I. S. Gildersleeve, Jill Clayton-Smith, Mark C. Hannibal, Jay Shendure, Tamim H. Shaikh, Tadashi Kaname, Graeme C.M. Black, Michael J. Bamshad, Naomichi Matsumoto, Kenji Naritomi, Jeffrey E. Ming, Heather C Mefford, Akira Sudo, Dian Donnai, Hirofumi Ohashi, Norio Niikawa, Colleen A. Morris, Margaret J. Mcmillin, Abigail W. Bigham, Tohru Ohta, Elaine H. Zackai, Deborah A. Nickerson, Sarah B. Ng, Holly K. Tabor, Noriko Miyake
Publikováno v:
American Journal of Medical Genetics Part A. 155:1511-1516
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8da572954849b85b4e66f7e477ea08a
https://doi.org/10.1002/ajmg.a.34074
https://doi.org/10.1002/ajmg.a.34074