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American Journal of Medical Genetics. Part A|December 10, 2025
Functional Independence in Adults With Prader-Willi Syndrome: First Report Using the FIM InstrumentYuji Oto, Hiroyuki Ogata, Erina Nakane, et al.
Endocrine Journal|May 28, 2025
Improvement in body composition of Japanese participants with Prader-Willi syndrome following somatropin treatment: an open-label, multi cohort Phase 3 studyMasanobu Kawai, Nobuyuki Murakami, Reiko Horikawa, et al.
Neuromuscular Disorders : NMD|June 26, 2021
A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophyHotake Takizawa, Madoka Mori-Yoshimura, Narihiro Minami, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational studyYasuhiro Kido, Satoru Sakazume, Yoshiko Abe, et al.
American Journal of Medical Genetics|October 31, 2002
Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R?Toshiro Nagai, Osamu Shimokawa, Naoki Harada, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|March 28, 2023
Perinatal and neonatal characteristics of Prader-Willi syndrome in JapanYuji Oto, Nobuyuki Murakami, Kaishi Imatani, et al.
Clinical Epigenetics|October 23, 2020
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndromeKaori Hara-Isono, Keiko Matsubara, Tomoko Fuke, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Internal Medicine (Tokyo, Japan)|November 1, 2021
Subtle Cardiovascular Abnormalities in Prader-Willi Syndrome Might Begin in Young AdulthoodSayuki Kobayashi, Nobuyuki Murakami, Yuji Oto, et al.
Neurology. Genetics|September 24, 2016
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndromeThanes Termglinchan, Seito Hisamatsu, Junko Ohmori, et al.
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