Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Masatsune Itoh"'
Publikováno v:
Bone Reports, Vol 16, Iss , Pp 101569- (2022)
Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the GNAS gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical feat
Externí odkaz:
https://doaj.org/article/2e60615b3bc44c17a3cab46e56abf080
Autor:
Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-7 (2019)
Abstract Background Human 15q11–13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These concertedly confer
Externí odkaz:
https://doaj.org/article/4f7e07b19251402eb67cc3fb10d94db2
Autor:
Keisuke Nagasaki, Kanshi Minamitani, Akie Nakamura, Hironori Kobayashi, Chikahiko Numakura, Masatsune Itoh, Yuichi Mushimoto, Kaori Fujikura, Masaru Fukushi, Toshihiro Tajima
Publikováno v:
Clinical Pediatric Endocrinology. 32:26-51
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1302-1305
Objectives A recent large retrospective cohort study of cases of hyponatremia in Prader–Willi syndrome (PWS), conducted at nine reference centers, showed that severe hyponatremia was rare in PWS (0.5%); furthermore, all cases involved adults. Here,
Autor:
Masatsune Itoh1 p-itou@kanazawa-med.ac.jp, Yutaka Saikawa1
Publikováno v:
Clinical Pediatric Endocrinology. Jan2017, Vol. 26 Issue 1, p25-28. 4p. 2 Diagrams.
Autor:
Elsayed Abdelkreem, Yuji Sekine, Osamu Ohara, Yuka Aoyama, Hideo Sasai, Toshiyuki Fukao, Hidenori Ohnishi, Yasuhiro Naiki, Mitsuru Kubota, Ryoji Fujiki, Hiroki Otsuka, Mina Nakama, Masatsune Itoh
Publikováno v:
Journal of Inherited Metabolic Disease. 40:845-852
Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 pati
Autor:
Yutaka Saikawa, Masatsune Itoh
Publikováno v:
Clinical Pediatric Endocrinology. 26:25-28
Autor:
Matsubara, Keiko, Masatsune Itoh, Shimizu, Kenji, Saito, Shinji, Enomoto, Keisuke, Nakabayashi, Kazuhiko, Hata, Kenichiro, Kurosawa, Kenji, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Figure S3. Algorithm for HM450k data processing. (PPTX 46 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11867387bf667955a8f23765b5546767
Autor:
Matsubara, Keiko, Masatsune Itoh, Shimizu, Kenji, Saito, Shinji, Enomoto, Keisuke, Nakabayashi, Kazuhiko, Hata, Kenichiro, Kurosawa, Kenji, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Supplementary document. (DOCX 23 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42bcadec9521c395a60ed9c20c08addd
Autor:
Matsubara, Keiko, Masatsune Itoh, Shimizu, Kenji, Saito, Shinji, Enomoto, Keisuke, Nakabayashi, Kazuhiko, Hata, Kenichiro, Kurosawa, Kenji, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo
Figure S2. Family trees of cases with microdeletions enrolled in this study. (PPTX 40 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8efc964e2a4e934e5850bede341467