1 - 57 of about 57
English: Tanabe H, Ijiri M, Takahashi K, Sasagawa H, Kamanaka T, Kuroda S, Sato H, Sarashina T, Mizukami Y, Makita Y & Okumura T, Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability , Human Genome Variation , vol.11 (13) , 2024
English: Okano S, Makita Y, Miyamoto A, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K & Kaname T,, GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy , Human Genome Variation , vol.10 (4) , 2023
English: Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, I Nishino, Takahashi S, Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review. , CLINICAL NEUROMUSCULAR DISEASE , vol.24 (1) (p.49 - 54) , 2022
English: Okano S, Makita Y, Kimura K, Fukuda I, Miyamoto A, Tanaka H, Wisconsin syndrome with brain volume laterality: clinical report and literature review , Journal of Medical Case Reports , vol.16 (1) , 2022
English: Tanaka R, Takeguchi R, Kuroda M, Suzuki N, Makita Y, Yanagi K, Kaname T, and Satoru Takahashi, Novel NARS2 variant causing leigh syndrome with normal lactate levels. , Human Genome Variation , vol.9 (1) , 2022
English: Nohara F, Tajima G, Sasai H, Makita Y ,, MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM. , Human Genome Variation , vol.9 (1) , 2022
English: Okano S, Miyamoto A, Makita Y, Taketazu G, Kimura K, Fukuda I, Tanaka H, Yanagi K, Kaname T., Severe gastrointestinal symptoms caused by a novel DDX3X variant. , Europian Journal of Medical Genetics , vol.63 (12) , 2020 , (IF:2.708)
English: Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T., Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report , Clinical Pediatric Endocrinology , vol.29 (4) (p.179 - 182) , 2020 , (IF:1.04)
English: Tanaka R, Takahashi S, Kuroda M, Takeguchi R, Suzuki N, Makita Y, Narumi-Kishimoto Y, Kaname T., Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy. , Epileptic Disorder , vol.22 (4) (p.501 - 505) , 2020 , (IF:1.276)
English: Azuma N, Uchida T, Kikuchi S, Sadahiro M, Shintani T, Yanagi K, Higashita R, Yamashita A, Makita Y, Kaname T., NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia. , Circuration Journal , vol.25 (7) (p.1183 - 1188) , 2020 , (IF:2.54)
English: Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul-Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup,6 Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin C. Herman, Joshua Deignan, Walla Al-Hertani, Stephanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge,Maria Hafstro¨m, Emily Fassi, Helein Wassinknry Houlden, Jolien S. K-Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien van G, Richard Delorme, Gregory M. Cooper, Jose E. Mils, Thomas Bourgeronartinez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen van de Gassen, Sarju G. Mehta, Dagmar Huhle, Rami Abou Jamra, Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons , American Journal of Human Genetics , vol.104 (1) (p.1 - 20) , 2019
English: Okano S, Makita Y, Katada A, Harabuchi Y, Kohmoto T, Naruto T, Masuda K, Imoto I., Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I. , Human Genome Variation , vol.6 (p.8) , 2019
English: Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y., Genitopatellar syndrome: the first reported case in Japan. , Human Genome Variation , vol.5 (p.8) , 2018
English: Kato T, Ouchi Y, Inagaki H, Makita Y, Mizuno S, Kajita M, Ikeda T, Takeuchi K, Kurahashi H., Genomic Characterization of chromosomal insertions: Insight into the mechanisms underlying chromothipsis , Cytogenet Genome Res. , vol.153 (1) (p.1 - 9) , 2017 , (IF:1.354)
English: Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J., SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenitalanomalies previously negative for large rearrangements. , Journal of Human Genetics , vol.61 (4) (p.335 - 343) , 2016 , (IF:2.487)
English: Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N., Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. , Journal of Human Genetics , vol.60 (4) (p.175 - 182) , 2015
English: Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H., Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations. , Gentic Medicine , vol.16 (12) (p.903 - 912) , 2014
English: Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K., X-linked Alport syndrome caused by splicing mutations in COL4A5. , Clinical Journal of American Society of Nephrology. , vol.9 (11) (p.1958 - 1964) , 2014
English: Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N., MLL2 and KDM6A mutations in patients with Kabuki syndrome. , American Journal of Medical Genetics , vol.161 (9) (p.2234 - 2243) , 2013
English: Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N., Coffin-Siris syndrome is a SWI/SNF complex disorder. , Clinical Genetics , vol.85 (6) (p.548 - 554) , 2013
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)
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: 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: 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: 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: 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: Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K., Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. , Am J Hum Genet , vol.81 (p.835 - 841) , 2007 , (IF:10.153)
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: 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: 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: 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: 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: 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: 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)
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: 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)
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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