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American Journal of Medical Genetics. Part A|June 24, 2004
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a childGen Nishimura, Tomonobu Hasegawa, Eiichi Kinoshita, et al.
The Pediatric Infectious Disease Journal|January 27, 2004
Persistent hepatitis associated with chronic active Epstein-Barr virus infectionAkihiko Yuge, Eiichi Kinoshita, Masako Moriuchi, et al.
Endocrine Journal|August 28, 2003
Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPLRie Sasaki, Yasuji Inamo, Kazumasa Saitoh, et al.
World Journal of Gastroenterology|May 12, 2006
Remission of primary low-grade gastric lymphomas of the mucosa-associated lymphoid tissue type in immunocompromised pediatric patientsYasuharu Ohno, Taichirou Kosaka, Izumi Muraoka, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|May 14, 2016
Genetic background of hyperphenylalaninemia in Nagasaki, JapanSumito Dateki, Satoshi Watanabe, Akiko Nakatomi, et al.
Journal of Human Genetics|January 30, 2019
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiencySumito Dateki, Satoshi Watanabe, Hiroyuki Mishima, et al.
Endocrine Journal|May 10, 2013
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiencyMaki Fukami, Manami Iso, Naoko Sato, et al.
American Journal of Medical Genetics. Part A|March 3, 2004
Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case reportTatsuro Kondoh, Jiro Eguchi, Yoichiro Hamasaki, et al.
Journal of Bone and Mineral Metabolism|April 20, 2005
The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndromeTakehisa Yamamoto, Yasuo Imanishi, Eiichi Kinoshita, et al.
The Journal of Clinical Endocrinology and Metabolism|June 11, 2010
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletionSumito Dateki, Maki Fukami, Ayumi Uematsu, et al.
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