Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kei Izumi"'
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature
Autor:
Noriyuki Namba, Sayaka Kawashima, Masayo Kagami, Kei Izumi, Hiroko Yagi, Maki Fukami, Machiko Toki, Koji Muroya, Yasuhiro Hirano, Sumito Dateki, Tsutomu Kamimaki, Toshiaki Tanaka
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 33(10)
Objectives Imprinted genes have important roles for normal growth and development. Imprinting disorders (IDs) such as Silver-Russell syndrome and Temple syndrome are rare diseases that typically cause short children born small for gestational age (SG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf33ea8cce779195485b73742735c3fe
https://pubmed.ncbi.nlm.nih.gov/32866124
https://pubmed.ncbi.nlm.nih.gov/32866124
Autor:
Keiko Matsubara, Sumito Dateki, Kei Izumi, Hiroyuki Moriuchi, Akiko Nakatomi, Masayo Kagami, Maki Fukami, Tatsuro Kondoh, Satoshi Watanabe
Publikováno v:
Journal of human genetics. 62(10)
Silver?Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ce783e0eb283ab592ba165f2885e34
https://pubmed.ncbi.nlm.nih.gov/28592837
https://pubmed.ncbi.nlm.nih.gov/28592837
Publikováno v:
Medical and Pediatric Oncology. 38:72-72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11584da0c3273d3ca703d6d6df4ed024
https://doi.org/10.1002/mpo.1272
https://doi.org/10.1002/mpo.1272
Publikováno v:
The Journal of Nihon University School of Dentistry. 4:113-121
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abf22cec5b53d9f6606ffd15ad9807f2
https://doi.org/10.2334/josnusd1959.4.113
https://doi.org/10.2334/josnusd1959.4.113