Works matching AU Miyake, Noriko

Results: 226

Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations.

Published in:

2017

By:

Jiro Kino;
Hiroyasu Tsukaguchi;
Takahisa Kimata;
Huan Thanh Nguyen;
Yorika Nakano;
Noriko Miyake;
Naomichi Matsumoto;
Kazunari Kaneko;
Kino, Jiro;
Tsukaguchi, Hiroyasu;
Kimata, Takahisa;
Nguyen, Huan Thanh;
Nakano, Yorika;
Miyake, Noriko;
Matsumoto, Naomichi;
Kaneko, Kazunari

Publication type:

journal article

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

Published in:

2016

By:

Hikaru Kanemasa;
Ryoko Fukai;
Yasunari Sakai;
Michiko Torio;
Noriko Miyake;
Sooyoung Lee;
Hiroaki Ono;
Satoshi Akamine;
Kei Nishiyama;
Masafumi Sanefuji;
Yoshito Ishizaki;
Hiroyuki Torisu;
Hirotomo Saitsu;
Naomichi Matsumoto;
Toshiro Hara;
Kanemasa, Hikaru;
Fukai, Ryoko;
Sakai, Yasunari;
Torio, Michiko;
Miyake, Noriko

Publication type:

journal article

rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.

Published in:

Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00419-7

By:

Hitomi, Yuki;
Aiba, Yoshihiro;
Ueno, Kazuko;
Nishida, Nao;
Kawai, Yosuke;
Kawashima, Minae;
Tsuiji, Makoto;
Iwabuchi, Chisato;
Takada, Sanami;
Miyake, Noriko;
Nagasaki, Masao;
Tokunaga, Katsushi;
Nakamura, Minoru

Publication type:

Article

A potential protective effect of 5-aminolevulinic acid against anticancer drug-induced damage to intestinal mucosa.

Published in:

Kawasaki Medical Journal, 2021, v. 47, p. 47, doi. 10.11482/KMJ-E202147047

By:

Munenori TAKAOKA;
Naomasa ISHIDA;
Miki IWAI;
Yoshiko TATSUTA;
Rie KOSAKA;
Etsuko YOKOTA;
Noriko MIYAKE;
Takuya FUKAZAWA;
Masaki MATSUBARA;
Tohru TANAKA;
Motowo NAKAJIMA;
Naoto IKEMOTO;
Yoko OCHIAI;
Tomoki YAMATSUJI

Publication type:

Article

Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells.

Published in:

Cerebellum, 2014, v. 13, n. 1, p. 29, doi. 10.1007/s12311-013-0516-5

By:

Konno, Ayumu;
Shuvaev, Anton;
Miyake, Noriko;
Miyake, Koichi;
Iizuka, Akira;
Matsuura, Serina;
Huda, Fathul;
Nakamura, Kazuhiro;
Yanagi, Shigeru;
Shimada, Takashi;
Hirai, Hirokazu

Publication type:

Article

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep07132

By:

Hiroshi Doi;
Masao Ushiyama;
Takashi Baba;
Katsuko Tani;
Masaaki Shiina;
Kazuhiro Ogata;
Satoko Miyatake;
Yoko Fukuda-Yuzawa;
Shoji Tsuji;
Mitsuko Nakashima;
Yoshinori Tsurusaki;
Noriko Miyake;
Hirotomo Saitsu;
Shu-ichi Ikeda;
Fumiaki Tanaka;
Naomichi Matsumoto;
Kunihiro Yoshida

Publication type:

Article

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 268, doi. 10.1002/ajmg.a.63424

By:

Nishi, Eriko;
Miyake, Noriko;
Kawamura, Rie;
Hosoki, Kana;
Hasegawa, Yuiko;
Matsumoto, Naomichi;
Okamoto, Nobuhiko

Publication type:

Article

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.

Published in:

Journal of Orthopaedic Research, 2017, v. 35, n. 4, p. 768, doi. 10.1002/jor.23300

By:

Sakamoto, Yuma;
Yamamoto, Takuaki;
Miyake, Noriko;
Matsumoto, Naomichi;
Iida, Aritoshi;
Nakashima, Yasuharu;
Iwamoto, Yukihide;
Ikegawa, Shiro

Publication type:

Article

De novo GABRA1 mutations in Ohtahara and West syndromes.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 4, p. 566, doi. 10.1111/epi.13344

By:

Kodera, Hirofumi;
Ohba, Chihiro;
Kato, Mitsuhiro;
Maeda, Toshiyuki;
Araki, Kaoru;
Tajima, Daisuke;
Matsuo, Muneaki;
Hino‐Fukuyo, Naomi;
Kohashi, Kosuke;
Ishiyama, Akihiko;
Takeshita, Saoko;
Motoi, Hirotaka;
Kitamura, Taro;
Kikuchi, Atsuo;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Sasaki, Masayuki;
Kure, Shigeo;
Haginoya, Kazuhiro

Publication type:

Article

De novo DNM1 mutations in two cases of epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 1, p. e18, doi. 10.1111/epi.13257

By:

Nakashima, Mitsuko;
Kouga, Takeshi;
Lourenço, Charles Marques;
Shiina, Masaaki;
Goto, Tomohide;
Tsurusaki, Yoshinori;
Miyatake, Satoko;
Miyake, Noriko;
Saitsu, Hirotomo;
Ogata, Kazuhiro;
Osaka, Hitoshi;
Matsumoto, Naomichi

Publication type:

Article

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072

By:

Ohba, Chihiro;
Kato, Mitsuhiro;
Takahashi, Nobuya;
Osaka, Hitoshi;
Shiihara, Takashi;
Tohyama, Jun;
Nabatame, Shin;
Azuma, Junji;
Fujii, Yuji;
Hara, Munetsugu;
Tsurusawa, Reimi;
Inoue, Takahito;
Ogata, Reina;
Watanabe, Yoriko;
Togashi, Noriko;
Kodera, Hirofumi;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Tanaka, Fumiaki

Publication type:

Article

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987

By:

Ohba, Chihiro;
Shiina, Masaaki;
Tohyama, Jun;
Haginoya, Kazuhiro;
Lerman‐Sagie, Tally;
Okamoto, Nobuhiko;
Blumkin, Lubov;
Lev, Dorit;
Mukaida, Souichi;
Nozaki, Fumihito;
Uematsu, Mitsugu;
Onuma, Akira;
Kodera, Hirofumi;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Tanaka, Fumiaki;
Kato, Mitsuhiro;
Ogata, Kazuhiro;
Saitsu, Hirotomo

Publication type:

Article

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 7, p. 994, doi. 10.1111/epi.12668

By:

Ohba, Chihiro;
Kato, Mitsuhiro;
Takahashi, Satoru;
Lerman‐Sagie, Tally;
Lev, Dorit;
Terashima, Hiroshi;
Kubota, Masaya;
Kawawaki, Hisashi;
Matsufuji, Mayumi;
Kojima, Yasuko;
Tateno, Akihiko;
Goldberg‐Stern, Hadassa;
Straussberg, Rachel;
Marom, Dafna;
Leshinsky‐Silver, Esther;
Nakashima, Mitsuko;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Tanaka, Fumiaki

Publication type:

Article

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 2, p. e13, doi. 10.1111/epi.12508

By:

Nakamura, Kazuyuki;
Osaka, Hitoshi;
Murakami, Yoshiko;
Anzai, Rie;
Nishiyama, Kiyomi;
Kodera, Hirofumi;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Kinoshita, Taroh;
Matsumoto, Naomichi;
Saitsu, Hirotomo

Publication type:

Article

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1441, doi. 10.1111/j.1528-1167.2012.03548.x

By:

Saitsu, Hirotomo;
Kato, Mitsuhiro;
Osaka, Hitoshi;
Moriyama, Nobuko;
Horita, Hideki;
Nishiyama, Kiyomi;
Yoneda, Yuriko;
Kondo, Yukiko;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Hayasaka, Kiyoshi;
Matsumoto, Naomichi

Publication type:

Article

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

Published in:

Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2397, doi. 10.1111/j.1528-1167.2010.02728.x

By:

Saitsu, Hirotomo;
Kato, Mitsuhiro;
Okada, Ippei;
Orii, Kenji E.;
Higuchi, Tsukasa;
Hoshino, Hideki;
Kubota, Masaya;
Arai, Hiroshi;
Tagawa, Tetsuzo;
Kimura, Shigeru;
Sudo, Akira;
Miyama, Sahoko;
Takami, Yuichi;
Watanabe, Toshihide;
Nishimura, Akira;
Nishiyama, Kiyomi;
Miyake, Noriko;
Wada, Takahito;
Osaka, Hitoshi;
Kondo, Naomi

Publication type:

Article

Tyrosine triple mutated AAV2-BDNF gene therapy in a rat model of transient IOP elevation.

Published in:

Molecular Vision, 2016, v. 22, p. 1

By:

Tsutomu Igarashi;
Koichi Miyake;
Maika Kobayashi;
Shuhei Kameya;
Chiaki Fujimoto;
Kenji Nakamoto;
Hisatomo Takahashi;
Toru Igarashi;
Noriko Miyake;
Osamu Iijima;
Yukihiko Hirai;
Takashi Shimada;
Takashi Okada;
Hiroshi Takahashi

Publication type:

Article

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Published in:

2018

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Shirai, Ikuko;
Kumada, Satoko;
Nakata, Yasuhiro;
Kamemaru, Aiko;
Nakashima, Mitsuko;
Mizuguchi, Takeshi;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Case Study

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Published in:

Movement Disorders, 2013, v. 28, n. 4, p. 552, doi. 10.1002/mds.25296

By:

Higashiyama, Yuichi;
Doi, Hiroshi;
Wakabayashi, Masatoshi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Ohba, Chihiro;
Fukai, Ryoko;
Miyatake, Satoko;
Joki, Hideto;
Koyano, Shigeru;
Suzuki, Yume;
Tanaka, Fumiaki;
Kuroiwa, Yoshiyuki;
Matsumoto, Naomichi

Publication type:

Article

NUP107 mutations in children with steroid-resistant nephrotic syndrome.

Published in:

Nephrology Dialysis Transplantation, 2017, v. 32, n. 6, p. 1013, doi. 10.1093/ndt/gfw103

By:

Eujin Park;
Yo Han Ahn;
Hee Gyung Kang;
Noriko Miyake;
Hiroyasu Tsukaguchi;
Hae Il Cheong

Publication type:

Article

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.

Published in:

Pathology International, 2017, v. 67, n. 11, p. 585, doi. 10.1111/pin.12587

By:

Iwashita, Hiromichi;
Okudela, Koji;
Matsumura, Mai;
Yamanaka, Shoji;
Sawazumi, Tomoe;
Enaka, Makiko;
Udaka, Naoko;
Miyake, Akio;
Hibiya, Takashi;
Miyake, Noriko;
Matsumoto, Naomichi;
Makiyama, Kazuhide;
Yao, Masahiro;
Nagashima, Yoji;
Ohashi, Kenichi

Publication type:

Article

Absence of mutations in the β-catenin and adenomatous polyposis coli genes in papillary and follicular thyroid carcinomas.

Published in:

Pathology International, 2001, v. 51, n. 9, p. 680, doi. 10.1046/j.1440-1827.2001.01269.x

By:

Miyake, Noriko;
Maeta, Hiroyuki;
Horie, Satoshi;
Kitamura, Yukisato;
Nanba, Eiji;
Kobayashi, Kaoru;
Terada, Tadashi

Publication type:

Article

Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.

Published in:

Neuropathology, 2024, v. 44, n. 6, p. 411, doi. 10.1111/neup.12995

By:

Kimura, Shigemi;
Miyake, Noriko;
Ozasa, Shiro;
Ueno, Hiroe;
Ohtani, Yoshinobu;
Takaoka, Yutaka;
Nishino, Ichizo

Publication type:

Article

Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.

Published in:

Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6

By:

Kimura, Hiroki;
Nakatochi, Masahiro;
Aleksic, Branko;
Guevara, James;
Toyama, Miho;
Hayashi, Yu;
Kato, Hidekazu;
Kushima, Itaru;
Morikawa, Mako;
Ishizuka, Kanako;
Okada, Takashi;
Tsurusaki, Yoshinori;
Fujita, Atsushi;
Miyake, Noriko;
Ogi, Tomoo;
Takata, Atsushi;
Matsumoto, Naomichi;
Buxbaum, Joseph;
Ozaki, Norio;
Sebat, Jonathan

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72

By:

Tsurusaki, Yoshinori;
Tanaka, Ryuta;
Shimada, Shino;
Shimojima, Keiko;
Shiina, Masaaki;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Miyake, Noriko;
Ogata, Kazuhiro;
Yamamoto, Toshiyuki;
Matsumoto, Naomichi

Publication type:

Article

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 381, doi. 10.1038/jhg.2015.35

By:

Kohrogi, Kensaku;
Imagawa, Eri;
Muto, Yuichiro;
Hirai, Katsuki;
Migita, Masahiro;
Mitsubuchi, Hiroshi;
Miyake, Noriko;
Matsumoto, Naomichi;
Nakamura, Kimitoshi;
Endo, Fumio

Publication type:

Article

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13

By:

Fukai, Ryoko;
Hiraki, Yoko;
Yofune, Hiroko;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Tanaka, Fumiaki;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7

By:

Kunii, Misako;
Doi, Hiroshi;
Higashiyama, Yuichi;
Kugimoto, Chiharu;
Ueda, Naohisa;
Hirata, Junichi;
Tomita-Katsumoto, Atsuko;
Kashikura-Kojima, Mari;
Kubota, Shun;
Taniguchi, Midori;
Murayama, Kei;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Tanaka, Fumiaki

Publication type:

Article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Imagawa, Eri;
Ohba, Chihiro;
Kuki, Ichiro;
Nukui, Megumi;
Araki, Atsushi;
Makita, Yoshio;
Ogata, Tsutomu;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103

By:

Kodera, Hirofumi;
Osaka, Hitoshi;
Iai, Mizue;
Aida, Noriko;
Yamashita, Akio;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 649, doi. 10.1038/jhg.2014.88

By:

Suzuki, Toshifumi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Saitsu, Hirotomo;
Takeda, Satoru;
Matsumoto, Naomichi

Publication type:

Article

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91

By:

Saitsu, Hirotomo;
Yamashita, Sumimasa;
Tanaka, Yukichi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 12, p. 691, doi. 10.1038/jhg.2014.95

By:

Nakashima, Mitsuko;
Miyajima, Masakazu;
Sugano, Hidenori;
Iimura, Yasushi;
Kato, Mitsuhiro;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Arai, Hajime;
Matsumoto, Naomichi

Publication type:

Article

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 589, doi. 10.1038/jhg.2014.75

By:

Yoshida, Kunihiro;
Miyatake, Satoko;
Kinoshita, Tomomi;
Doi, Hiroshi;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71

By:

Saitsu, Hirotomo;
Tohyama, Jun;
Walsh, Tom;
Kato, Mitsuhiro;
Kobayashi, Yu;
Lee, Ming;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Goto, Yu-ichi;
Nishino, Ichizo;
Ohtake, Akira;
King, Mary-Claire;
Matsumoto, Naomichi

Publication type:

Article

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 8, p. 471, doi. 10.1038/jhg.2014.51

By:

Nakashima, Mitsuko;
Takano, Kyoko;
Osaka, Hitoshi;
Aida, Noriko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 292, doi. 10.1038/jhg.2014.18

By:

Ohba, Chihiro;
Nabatame, Shin;
Iijima, Yoshitaka;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Nakashima, Mitsuko;
Miyake, Noriko;
Tanaka, Fumiaki;
Ozono, Keiichi;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 4, p. 229, doi. 10.1038/jhg.2013.143

By:

Nakajima, Junya;
Eminoglu, Tuba F;
Vatansever, Goksel;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Kawashima, Hisashi;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Novel FIG4 mutations in Yunis-Varon syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 12, p. 822, doi. 10.1038/jhg.2013.104

By:

Nakajima, Junya;
Okamoto, Nobuhiko;
Shiraishi, Jun;
Nishimura, Gen;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Kawashima, Hisashi;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 6, p. 391, doi. 10.1038/jhg.2013.25

By:

Iida, Aritoshi;
Okamoto, Nobuhiko;
Miyake, Noriko;
Nishimura, Gen;
Minami, Satoshi;
Sugimoto, Takuya;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Shiina, Masaaki;
Ogata, Kazuhiro;
Watanabe, Shigehiko;
Ohashi, Hirofumi;
Matsumoto, Naomichi;
Ikegawa, Shiro

Publication type:

Article

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117

By:

Tsurusaki, Yoshinori;
Kobayashi, Yasuko;
Hisano, Masataka;
Ito, Shuichi;
Doi, Hiroshi;
Nakashima, Mitsuko;
Saitsu, Hirotomo;
Matsumoto, Naomichi;
Miyake, Noriko

Publication type:

Article

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 12, p. 804, doi. 10.1038/jhg.2012.105

By:

Miyatake, Satoko;
Touho, Hajime;
Miyake, Noriko;
Ohba, Chihiro;
Doi, Hiroshi;
Saitsu, Hirotomo;
Taguri, Masataka;
Morita, Satoshi;
Matsumoto, Naomichi

Publication type:

Article

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 197, doi. 10.1038/jhg.2012.4

By:

Kondo, Yukiko;
Saitsu, Hirotomo;
Miyamoto, Toshinobu;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Ryoo, Na-Kyung;
Kim, Jeong Hun;
Yu, Young Suk;
Matsumoto, Naomichi

Publication type:

Article

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 207, doi. 10.1038/jhg.2012.7

By:

Yoneda, Yuriko;
Saitsu, Hirotomo;
Touyama, Mayumi;
Makita, Yoshio;
Miyamoto, Akie;
Hamada, Keisuke;
Kurotaki, Naohiro;
Tomita, Hiroaki;
Nishiyama, Kiyomi;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Ogata, Kazuhiro;
Naritomi, Kenji;
Matsumoto, Naomichi

Publication type:

Article

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 398, doi. 10.1038/jhg.2011.28

By:

Dai, Jin;
Kim, Ok-Hwa;
Cho, Tae-Joon;
Miyake, Noriko;
Song, Hae-Ryong;
Karasugi, Tatsuki;
Sakazume, Satoru;
Ikema, Masahide;
Matsui, Yoshito;
Nagai, Toshiro;
Matsumoto, Naomichi;
Ohashi, Hirofumi;
Kamatani, Naoyuki;
Nishimura, Gen;
Furuichi, Tatsuya;
Takahashi, Atsushi;
Ikegawa, Shiro

Publication type:

Article

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 343, doi. 10.1038/jhg.2011.16

By:

Tadaki, Hiromi;
Saitsu, Hirotomo;
Nishimura-Tadaki, Akira;
Imagawa, Tomoyuki;
Kikuchi, Masako;
Hara, Ryoki;
Kaneko, Utako;
Kishi, Takayuki;
Miyamae, Takako;
Miyake, Noriko;
Doi, Hiroshi;
Tsurusaki, Yoshinori;
Sakai, Haruya;
Yokota, Shumpei;
Matsumoto, Naomichi

Publication type:

Article

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155

By:

Nishimura-Tadaki, Akira;
Wada, Takahito;
Bano, Gul;
Gough, Karen;
Warner, Janet;
Kosho, Tomoki;
Ando, Noriko;
Hamanoue, Haruka;
Sakakibara, Hideya;
Nishimura, Gen;
Tsurusaki, Yoshinori;
Doi, Hiroshi;
Miyake, Noriko;
Wakui, Keiko;
Saitsu, Hirotomo;
Fukushima, Yoshimitsu;
Hirahara, Fumiki;
Matsumoto, Naomichi

Publication type:

Article

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30

By:

Kuniba, Hideo;
Yoshiura, Koh-ichiro;
Kondoh, Tatsuro;
Ohashi, Hirofumi;
Kurosawa, Kenji;
Tonoki, Hidefumi;
Nagai, Toshiro;
Okamoto, Nobuhiko;
Kato, Mitsuhiro;
Fukushima, Yoshimitsu;
Kaname, Tadashi;
Naritomi, Kenji;
Matsumoto, Tadashi;
Moriuchi, Hiroyuki;
Kishino, Tatsuya;
Kinoshita, Akira;
Miyake, Noriko;
Matsumoto, Naomichi;
Niikawa, Norio

Publication type:

Article

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 10, p. 914, doi. 10.1007/s10038-008-0327-6

By:

Mizuguchi, Takeshi;
Hashimoto, Ryota;
Itokawa, Masanari;
Sano, Akira;
Shimokawa, Osamu;
Yoshimura, Yukiko;
Harada, Naoki;
Miyake, Noriko;
Nishimura, Akira;
Saitsu, Hirotomo;
Sosonkina, Nadiya;
Niikawa, Norio;
Kunugi, Hiroshi;
Matsumoto, Naomichi

Publication type:

Article