Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Takanashi JI"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Louise Devisme, Jun-ichi Takanashi, Hülya Kayserili, Frédéric Huet, Jelena Martinovic, Catherine Noël, Tania Attié-Bitach, Muriel Holder, Nadia El Khartoufi, Estelle Lopez, Cédric Le Caignec, Jean-Baptiste Rivière, Pascale Kleinfinger, Ferechté Razavi, Hélène Ansart-Franquet, Nadège Gigot, Brunella Franco, Magali Avila, Irahara Kaori, Didier Lacombe, Julien Thevenon, Martine Le Merrer, Bernard Aral, Stanislas Lyonnet, Christel Thauvin-Robinet, Véronique Darmency-Stamboul, Bruno Reversade, Yeliz Güven, Lydie Burglen, Laurence Faivre, Lena Ho, Mohammad Shboul
Publikováno v:
Human genetics, 133(3), 367-377. Springer Verlag
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7838c7e9039ef326fa2f88aada94b0
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
Autor:
Sakuma H; Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan., Thomas T; Department of Paediatrics, Neurology Service, KK Women's and Children's Hospital, Singapore., Debinski C; Monash Children's Hospital, Melbourne, VIC, Australia., Eyre M; School of Biomedical Engineering and Imaging Sciences, King's College London, London, UK.; Children's Neurosciences, Evelina London Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, London, UK., Han VX; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Jones HF; Department of Neuroservices, Starship Children's Hospital, Auckland, New Zealand., Kawano G; Department of Paediatrics, St Mary's Hospital, Fukuoka, Japan., Lee VW; Children's Neurosciences, Evelina London Children's Hospital, London, UK.; Pediatric Neurology Unit, Hospital Tunku Azizah Kuala Lumpur, Malaysia., Malone S; Neuroscience Department, Queensland Children's Hospital, South Brisbane, QLD, Australia., Matsuishi T; Department of Paediatrics, St Mary's Hospital, Fukuoka, Japan.; Research Centre for Children and Research Centre for Rett Syndrome, St Mary's Hospital, Fukuoka, Japan.; Division of Gene Therapy and Regenerative Medicine, Cognitive and Molecular Research Institute of Brain Diseases, Kurume University School of Medicine, Fukuoka, Japan., Mohammad SS; Kids Neuroscience Centre and Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Mori T; Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Nishida H; Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia., Nosadini M; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.; Neuroimmunology Group, Paediatric Research Institute 'Città della Speranza', Padova, Italy., Takanashi JI; Department of Pediatrics and Pediatric Neurology, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan., Mizuguchi M; Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Lim M; Children's Neurosciences, Evelina London Children's Hospital, London, UK.; Faculty of Life Sciences and Medicine, King's College London, London, UK., Dale RC; Kids Neuroscience Centre, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Aug 14. Date of Electronic Publication: 2024 Aug 14.
Autor:
Ochiai K; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, JPN., Ohashi T; Department of Neurology, Kamagaya General Hospital, Kamagaya, JPN., Mori H; Department of Radiology, Jichi Medical University, School of Medicine, Tochigi, JPN., Saitsu H; Department of Medical Science, Hamamatsu University School of Medicine, Hamamatsu, JPN., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, JPN.
Publikováno v:
Cureus [Cureus] 2024 Jun 05; Vol. 16 (6), pp. e61716. Date of Electronic Publication: 2024 Jun 05 (Print Publication: 2024).
Autor:
Yasukohchi M; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan. Electronic address: yasukohchi.madoka@twmu.ac.jp., Omata T; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan. Electronic address: takuoma@hotmail.co.jp., Ochiai K; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan., Sano K; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan., Murofushi Y; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan., Kimura S; Department of Pediatric Critical Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan., Takase N; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan., Honda T; Department of Pediatric Critical Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan. Electronic address: honda3@df6.so-net.ne.jp., Yasukawa K; Department of Pediatric Critical Care Medicine, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan. Electronic address: kumi.y@nifty.com., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owadashinden, Yachiyo-shi, Chiba 276-8524, Japan. Electronic address: jtaka@twmu.ac.jp.
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2024 Feb 15; Vol. 457, pp. 122904. Date of Electronic Publication: 2024 Jan 24.
Autor:
Kasai M; Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, Japan. Electronic address: kasai-mr@igakuken.or.jp., Sakuma H; Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, Japan. Electronic address: sakuma-hs@igakuken.or.jp., Abe Y; Division of Neurology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, Japan. Electronic address: abe-yu@ncchd.go.jp., Kuki I; Department of Pediatric Neurology, Osaka City General Hospital, 2-13-22 Miyakojima-hondori, Miyakojima-ku, Osaka, Japan. Electronic address: i-kuki@med.osakacity-hp.or.jp., Maegaki Y; Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago-shi, Tottori, Japan. Electronic address: maegaki@med.tottori-u.ac.jp., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1 Heta-cho, Midori-ku, Chiba-shi, Chiba, Japan.. Electronic address: kmuraya@mri.biglobe.ne.jp., Murofushi Y; Department of Pediatrics and Pediatric Neurology, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owada Shinden, Yachiyo-shi, Chiba, Japan. Electronic address: murofushi.yuka@twmu.ac.jp., Nagase H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe City, Hyogo, Japan. Electronic address: nagase@med.kobe-u.ac.jp., Nishiyama M; Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojima-minamimachi, Chuo-ku, Kobe-shi, Hyogo, Japan., Okumura A; Department of Pediatrics, Aichi Medical University School of Medicine, 1-1 Yazakokarimata, Nagakute, Aichi, Japan. Electronic address: okumura.akihisa.479@mail.aichi-med-u.ac.jp., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan., Tada H; Division of Pediatrics, Chibaken Saiseikai Narashino Hospital, 2-1-1 Miyama, Narashino-shi, Chiba, Japan., Mizuguchi M; Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, 1-1-10 Komone, Itabashi-ku, Tokyo, Japan. Electronic address: bradev@m.u-tokyo.ac.jp., Takanashi JI; Department of Pediatrics and Pediatric Neurology, Tokyo Women's Medical University Yachiyo Medical Center, 477-96 Owada Shinden, Yachiyo-shi, Chiba, Japan. Electronic address: jtaka@twmu.ac.jp.
Publikováno v:
Journal of the neurological sciences [J Neurol Sci] 2024 Feb 15; Vol. 457, pp. 122867. Date of Electronic Publication: 2024 Jan 03.
Autor:
Yamamoto A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Shimizu-Motohashi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Sato N; Department of Radiology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Shimotuke, Japan., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan., Inoue K; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. Electronic address: kinoue@ncnp.go.jp.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Feb; Vol. 151, pp. 80-83. Date of Electronic Publication: 2023 Dec 01.