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Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Izumi Y, et al. Among authors: kinjo s. Fertil Steril. 2014 Oct;102(4):1130-1136.e3. doi: 10.1016/j.fertnstert.2014.06.017. Epub 2014 Jul 23. Fertil Steril. 2014. PMID: 25064402 Free article.
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: kinjo t, kinjo s. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
The incidences of and risk factors for severe retinopathy requiring photocoagulation and albuminuria in Japanese patients with childhood-onset type 1 diabetes.
Takaike H, Uchigata Y, Matsuura N, Sasaki N, Amemiya S, Urakami T, Kawamura T, Kikuchi N, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Takaike H, et al. Diabetol Int. 2017 Sep 22;9(2):121-128. doi: 10.1007/s13340-017-0336-9. eCollection 2018 May. Diabetol Int. 2017. PMID: 30603359 Free PMC article.
Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S. Tanase-Nakao K, et al. Among authors: kinjo s. J Clin Endocrinol Metab. 2024 Feb 19:dgae098. doi: 10.1210/clinem/dgae098. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38373250
Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017.
Matsushita R, Nagasaki K, Ayabe T, Miyoshi Y, Kinjo S, Haruna H, Ihara K, Hasegawa T, Ida S, Ozono K, Minamitani K; Thyroid Committee of the Japanese Society for Pediatric Endocrinology. Matsushita R, et al. Among authors: kinjo s. J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):585-595. doi: 10.1515/jpem-2018-0444. J Pediatr Endocrinol Metab. 2019. PMID: 31150358 Free article.
85 results