A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset

Autor: Daisuke Watanabe, Hideaki Yagasaki, Sayaka Ishii, Yumiko Mitsui, Takaya Nakane, Takeshi Inukai

Publikováno v: Pediatrics and Neonatology, Vol 61, Iss 1, Pp 114-116 (2020)

Externí odkaz: https://doaj.org/article/7c13707fdf514c69a3631cf2c4786339

Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases

Autor: Hiroki Ishiguro, Naomi Honobe, Takefumi Suzuki, Mariko Tamai, Takaya Nakane

Publikováno v: Case Reports in Psychiatry, Vol 2019 (2019)

Ehlers-Danlos syndrome (EDS) comprises a series of rare hereditary connective tissue diseases characterized by musculoskeletal, skin, and cardiovascular involvements. EDS may be associated with physical as well as psychological pain that can lead to

Externí odkaz: https://doaj.org/article/e18076d67e0b4df4b153b53440f9f603

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14)

Autor: Kosuke Mochida, Anne Slavotinek, Roberto Mendoza-Londono, Parul Jayakar, Kiyoshi Kikkawa, Luis E. Figuera, Andreas R. Janecke, Hiroko Morisaki, Takaya Nakane, Nicol C. Voermans, Delfien Syx, Tetsuyuki Kobayashi, Tomoko Kobayashi, Toshihiro Ohura, Klaas J. Wierenga, Tomomi Yamaguchi, Takayuki Morisaki, Mari Minatogawa, Michihiro Kono, William A. Gahl, Judith D. Ranells, Ai Unzaki, Tomoki Kosho, Cynthia J. Tifft, Yoko Aoki, Masumi Ishikawa, Ohsuke Migita, Akiharu Kubo, Naomichi Matsumoto, Fransiska Malfait, Chiho Tokorodani, Yves Lacassie, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Glenda Sobey, Noriko Miyake, Ken Ishikawa, Anupriya Kaur, Hiroshi Kawame

Publikováno v: Journal of Medical Genetics, 59, 9, pp. 865-877
Journal of Medical Genetics, 59, 865-877
Journal of Medical Genetics, 59(9), 865-877. BMJ Publishing Group
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K J, Jayakar, P, Gahl, W A, Tifft, C J, Figuera, L E, Hilhorst-Hofstee, Y, Maugeri, A, Ishikawa, K, Kobayashi, T, Aoki, Y, Ohura, T, Kawame, H, Kono, M, Mochida, K, Tokorodani, C, Kikkawa, K, Morisaki, T, Kobayashi, T, Nakane, T, Kubo, A, Ranells, J D, Migita, O, Sobey, G, Kaur, A, Ishikawa, M, Yamaguchi, T, Matsumoto, N, Malfait, F, Miyake, N & Kosho, T 2022, ' Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) ', Journal of Medical Genetics, vol. 59, no. 9, pp. 865-877 . https://doi.org/10.1136/jmedgenet-2020-107623

BackgroundMusculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d298fb5f42a456694aa45a947844ec
https://hdl.handle.net/2066/287515

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in

Autor: Mari, Minatogawa, Ai, Unzaki, Hiroko, Morisaki, Delfien, Syx, Tohru, Sonoda, Andreas R, Janecke, Anne, Slavotinek, Nicol C, Voermans, Yves, Lacassie, Roberto, Mendoza-Londono, Klaas J, Wierenga, Parul, Jayakar, William A, Gahl, Cynthia J, Tifft, Luis E, Figuera, Yvonne, Hilhorst-Hofstee, Alessandra, Maugeri, Ken, Ishikawa, Tomoko, Kobayashi, Yoko, Aoki, Toshihiro, Ohura, Hiroshi, Kawame, Michihiro, Kono, Kosuke, Mochida, Chiho, Tokorodani, Kiyoshi, Kikkawa, Takayuki, Morisaki, Tetsuyuki, Kobayashi, Takaya, Nakane, Akiharu, Kubo, Judith D, Ranells, Ohsuke, Migita, Glenda, Sobey, Anupriya, Kaur, Masumi, Ishikawa, Tomomi, Yamaguchi, Naomichi, Matsumoto, Fransiska, Malfait, Noriko, Miyake, Tomoki, Kosho

Publikováno v: Journal of medical genetics. 59(9)

Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants inWe collected detailed and comprehensive clinical and molecular information regarding previously reported and newly identified patients with mcEDS-Sixty-six

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e8068e28f248f3470796a2b17d194737
https://pubmed.ncbi.nlm.nih.gov/34815299

A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset

Autor: Takeshi Inukai, Sayaka Ishii, Takaya Nakane, Hideaki Yagasaki, Yumiko Mitsui, Daisuke Watanabe

Publikováno v: Pediatrics and Neonatology, Vol 61, Iss 1, Pp 114-116 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8f1cc148ca71eaee4866e2e30cc8b8b
https://pubmed.ncbi.nlm.nih.gov/31836301