41 - 56 of about 56
English: Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. , Molecular basis of neonatal diabetes in Japanese patients. , J Clin Endocrinol Metab , vol.92 (p.3979 - 3985 ) , 2007 , (IF:6.325)
English: Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J., Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a Girl With Cornelia-de Lange Syndrome Carrying t(5;13)(p13.1;q12.1) by Array-based Comparative Genomic Hybridization. , Am J Med Genet , vol.143 ((11)) (p.1191 - 1197) , 2007 , (IF:2.44)
English: Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y., Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene. , J Pediatr Hematol Oncol , vol.29 (p.287 - 290) , 2007 , (IF:1.278)
English: Nakamura S, Makita Y, Takagi A, Takahsshi H, Ishida-Yamamoto A, Iizuka H., Hutchinson-Gilford progeria syndrome with severe skin calcinosis. , Clin Exp Dermatol , vol.32 (p.525 - 528) , 2007 , (IF:1.779)
English: Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y., Molecular and clinical characterization of cardio -facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. , Am J Med Genet A , vol.143 (p.799 - 807) , 2007 , (IF:2.44)
English: Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Tahahashi T, Fukushima Y, Kawame H, Kosaki K., Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. , J Pediatr , vol.148 (p.410 - 414) , 2006 , (IF:3.117)
English: Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N., BAC array CGH reveals genomic aberrations in idiopathic mental retardation. , Am J Med Genet A , vol.140 (p.205 - 211) , 2006 , (IF:0.815)
English: Osaki M, Makita Y, Miura J, Abe N, Noguchi S, Miyamoto A., A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. , Am J Med Genet A , vol.140 (p.897 - 899) , 2006 , (IF:0.815)
English: Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S., Spine and rib abnormalities and stature in spondylocostal dysostosis. , Spine , vol.31 (p.E192 - 197 ) , 2006 , (IF:2.299)
English: Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T, Soma M., Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. , Hypertension , vol.48 (p.512 - 518) , 2006 , (IF:5.342)
English: Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K., Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. , Congenit Anom (Kyoto) , vol.45 (p.125 - 131) , 2005
English: Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR, Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. , Genet Med , vol.7 (p.479 - 483) , 2005 , (IF:3.805)
English: Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S., Novel SBDS mutaions caused by gene conversion in Japanese patiens with Shwachman-Diamond syndrome. , Hum Genet , vol.114 (p.345 - 348) , 2004 , (IF:4.022)
English: Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJM, Terazaki H, Suhr O, Sobue G, Yamaizumi M, Munar-Ques N, Inoue I, Uchino M, Hata A. , Common origin of the Val30Met mutation responsible for amyloidogenic transthyretin type familial amyloid polyneuropathy. , J Med Genet , vol.41 (p.e51) , 2004 , (IF:6.368)
English: Nishimura G, Ikeda T, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. , Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. , J Med Genet , vol.41 (p.75 - 79) , 2004 , (IF:6.368)
Japanese: MAKITA Yoshio, DNA microarray(CGH array and SNP array) indication for fetus and newborn. , Prenatal Medicine(Tokyo) , vol.44 (2) (p.167 - 171) , 2014
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