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Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K; Japan Growth Genome Consortium. Inoue H, et al. Among authors: mukai t. Clin Endocrinol (Oxf). 2012 Jan;76(1):78-87. doi: 10.1111/j.1365-2265.2011.04165.x. Clin Endocrinol (Oxf). 2012. PMID: 21722153
Molecular basis of neonatal diabetes in Japanese patients.
Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Suzuki S, et al. Among authors: mukai t. J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. doi: 10.1210/jc.2007-0486. Epub 2007 Jul 17. J Clin Endocrinol Metab. 2007. PMID: 17635943
HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families.
Sugihara S, Ogata T, Kawamura T, Urakami T, Takemoto K, Kikuchi N, Takubo N, Tsubouchi K, Horikawa R, Kobayashi K, Kasahara Y, Kikuchi T, Koike A, Mochizuki T, Minamitani K, Takaya R, Mochizuki H, Nishii A, Yokota I, Kizaki Z, Mori T, Shimura N, Mukai T, Matsuura N, Fujisawa T, Ihara K, Kosaka K, Kizu R, Takahashi T, Matsuo S, Hanaki K, Igarashi Y, Sasaki G, Soneda S, Teno S, Kanzaki S, Saji H, Tokunaga K, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Sugihara S, et al. Among authors: mukai t. Pediatr Diabetes. 2012 Feb;13(1):33-44. doi: 10.1111/j.1399-5448.2011.00833.x. Epub 2011 Nov 29. Pediatr Diabetes. 2012. PMID: 22128760
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
Ishii T, Kashimada K, Amano N, Takasawa K, Nakamura-Utsunomiya A, Yatsuga S, Mukai T, Ida S, Isobe M, Fukushi M, Satoh H, Yoshino K, Otsuki M, Katabami T, Tajima T. Ishii T, et al. Among authors: mukai t. Clin Pediatr Endocrinol. 2022;31(3):116-143. doi: 10.1297/cpe.2022-0009. Epub 2022 Apr 10. Clin Pediatr Endocrinol. 2022. PMID: 35928387 Free PMC article.
1,330 results