21 - 40 of about 57
English: Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S., PCDH19 mutation in Japanese females with epilepsy. , EPILEPSY RESEARCH , vol.99 (1-2) (p.28 - 37) , 2012 , (IF:2.493)
English: Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N., Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. , JOURNAL OF HUMAN GENETICS , vol.57 (3) (p.207 - 211) , 2012 , (IF:2.570)
English: Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J. , Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. , JOURNAL OF HUMAN GENETICS , vol.57 (3) (p.191 - 196) , 2012 , (IF:2.570)
English: Hayashi S, Okamoto N, Chinen Y, Takanashi JI, Makita Y, Hata A, Imoto I, Inazawa J., Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). , HUMAN GENETICS , vol.131 (1) (p.99 - 110) , 2012 , (IF:5.069)
English: Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N., MBTPS2 mutation causes BRESEK/BRESHECK syndrome. , AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.158A (1) (p.97 - 101) , 2012 , (IF:2.549)
English: Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G., Axial spondylometaphyseal dysplasia: additional reports. , Am J Med Genet A , vol.155A (10) (p.2521 - 2528) , 2011 , (IF:2.549)
English: Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S., Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. , JOURNAL OF HUMAN GENETICS , vol.56 (8) (p.609 - 612) , 2011 , (IF:2.570)
English: Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J., Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. , Journal of Human Genetics , vol.56 (2) (p.110 - 124) , 2011 , (IF:2.570)
English: Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K., 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. , European Journal of Medical Genetics , vol.54 (3) (p.354 - 356) , 2011 , (IF:2.178)
English: Ueno T, Tabara Y, Fukuda N, Tahira K, Matsumoto T, Kosuge K, Haketa A, Matsumoto K, Sato Y, Nakayama T, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T, Soma M., Association of SLC6A9 gene variants with human essential hypertension. , Journal of Atherosclerosis and Thrombosis , vol.16 (3) (p.201 - 206) , 2009 , (IF:2.692)
English: Nagaya K, Makita Y, Taketazu G, Okamoto T, Nakamura E, Hayashi T, Fujieda K., Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese. , Pediatr Res , vol.66 ((2)) (p.135 - 139 ) , 2009 , (IF:2.604)
English: Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S., A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. , Brain Dev , vol.31 ((1)) (p.27 - 33) , 2009 , (IF:1.401)
English: Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K., Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. , Clin Genet , vol.73 ((3)) (p.257 - 261) , 2008 , (IF:3.206)
English: Nishimaki S, Yukawa T, Makita Y, Honda H, Kikuchi N, Minamisawa S, Yokota S., Transient neonatal diabetes mellitus in extremely preterm infant. , Arch Dis Child Fetal Neonatal Ed , vol.93 ((3)) (p.F240 - F241 ) , 2008 , (IF:2.325)
English: Mashimo Y, Suzuki Y, Hatori K, Tabara Y, Miki T, Tokunaga K, Katsuya T, Ogihara T, Yamada M, Takahashi N, Makita Y, Nakayama T, Soma M, Hirawa N, Umemura S, Ohkubo T, Imai Y, Hata A., Association of TNFRSF4 gene polymorphisms with essential hypertension. , J Hypertens , vol.26 ((5)) (p.902 - 913) , 2008 , (IF:5.132)
English: Ueno T, Soma M, Tabara Y, Tokunaga K, Tahira K, Fukuda N, Matsumoto K, Nakayama T, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T., Association Between Fatty Acid Binding Protein 3 Gene Variants and Essential Hypertension in Humans. , Am J Hypertens , vol.21 ((6)) (p.691 - 695) , 2008 , (IF:3.122)
English: Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. , The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. , Am J Med Genet A , vol.146A ((16)) (p.2145 - 2151 ) , 2008 , (IF:2.555)
English: Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J., Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. , Am J Med Genet A , vol.146A ((22)) (p.2905 - 2910) , 2008 , (IF:2.555)
English: JATOS Study Group., Principal results of the Japanese trial to assess optimal systolic blood pressure in elderly hypertensive patients (JATOS). , Hypertens Res , vol.31 ((12)) (p.2115 - 2127 ) , 2008 , (IF:3.146)
English: Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J. , Construction of a High-density and High-resolution Human Chromosome X Array for Comparative Genomic Hybridization Analysis. , J Hum Genet , vol.52 (p.397 - 405) , 2007 , (IF:2.431)
Copyright (C) 2012～ Asahikawa Medical University, All Rights Reserved.