Works matching AU Kosaki, Rika

Results: 70

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9286

By:

Mabuchi, Akihiko;
Haga, Nobuhiko;
Maeda, Koichi;
Nakashima, Eiji;
Manabe, Noriyo;
Hiraoka, Hisatada;
Kitoh, Hiroshi;
Kosaki, Rika;
Nishimura, Gen;
Ohashi, Hirofumi;
Ikegawa, Shiro

Publication type:

Article

Donepezil Significantly Improves Abilities in Daily Lives of Female Down Syndrome Patients with Severe Cognitive Impairment: A 24-Week Randomized, Double-Blind, Placebo-Controlled Trial.

Published in:

International Journal of Psychiatry in Medicine, 2011, v. 41, n. 1, p. 71, doi. 10.2190/PM.41.1.g

By:

Tatsuro Kondoh;
Atsushi Kanno;
Hiroshi Itoh;
Mikiro Nakashima;
Ryoko Honda;
Michio Kojima;
Mitsuru Noguchi;
Hideyuki Nakane;
Hidetsugu Nozaki;
Hitoshi Sasaki;
Toshiro Nagai;
Rika Kosaki;
Naoko Kakee;
Torayuki Okuyama;
Masafumi Fukuda;
Masayuki Ikeda;
Yoshisada Shibata;
Hiroyuki Moriuchi

Publication type:

Article

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Published in:

Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01744-5

By:

Urakawa, Tatsuki;
Soejima, Hidenobu;
Yamoto, Kaori;
Hara-Isono, Kaori;
Nakamura, Akie;
Kawashima, Sayaka;
Narusawa, Hiromune;
Kosaki, Rika;
Nishimura, Yutaka;
Yamazawa, Kazuki;
Hattori, Tetsuo;
Muramatsu, Yukako;
Inoue, Takanobu;
Matsubara, Keiko;
Fukami, Maki;
Saitoh, Shinji;
Ogata, Tsutomu;
Kagami, Masayo

Publication type:

Article

PTPN11 (Protein-Tyrosine Phosphatase, NonreceptorType 11) Mutations in Seven Japanese Patients with Noonan Syndrome.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3529, doi. 10.1210/jcem.87.8.8694

By:

KENJIRO KOSAKI;
TAICHI SUZUKI;
KOJI MUROYA;
TOMONOBU HASEGAWA;
SEIJI SATO;
NOBUTAKE MATSUO;
RIKA KOSAKI;
TOSHIRO NAGAI;
YUKIHIRO HASEGAWA;
TSUTOMU OGATA

Publication type:

Article

Living-donor liver transplantation for propionic acidemia.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 3, p. 230, doi. 10.1111/j.1399-3046.2011.01607.x

By:

Kasahara, Mureo;
Sakamoto, Seisuke;
Kanazawa, Hiroyuki;
Karaki, Chiaki;
Kakiuchi, Toshihiko;
Shigeta, Takanobu;
Fukuda, Akinari;
Kosaki, Rika;
Nakazawa, Atsuko;
Ishige, Mika;
Nagao, Masayoshi;
Shigematsu, Yosuke;
Yorifuji, Tohru;
Naiki, Yasuhiro;
Horikawa, Reiko

Publication type:

Article

Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency.

Published in:

Pediatric Transplantation, 2010, v. 14, n. 8, p. 1036, doi. 10.1111/j.1399-3046.2010.01402.x

By:

Kasahara, Mureo;
Sakamoto, Seisuke;
Shigeta, Takanobu;
Fukuda, Akinari;
Kosaki, Rika;
Nakazawa, Atsuko;
Uemoto, Shinji;
Noda, Masahiro;
Naiki, Yasuhiro;
Horikawa, Reiko

Publication type:

Article

Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 5, p. 259, doi. 10.1038/jhg.2015.18

By:

Horibata, Katsuyoshi;
Kono, Sayaka;
Ishigami, Chie;
Zhang, Xue;
Aizawa, Madoka;
Kako, Yuko;
Ishii, Takuma;
Kosaki, Rika;
Saijo, Masafumi;
Tanaka, Kiyoji

Publication type:

Article

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 3, p. 191, doi. 10.1038/jhg.2011.154

By:

Okamoto, Nana;
Hayashi, Shin;
Masui, Ayako;
Kosaki, Rika;
Oguri, Izumi;
Hasegawa, Tomoko;
Imoto, Issei;
Makita, Yoshio;
Hata, Akira;
Moriyama, Keiji;
Inazawa, Johji

Publication type:

Article

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129

By:

Hayashi, Shin;
Imoto, Issei;
Aizu, Yoshinori;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Kurosawa, Kenji;
Okamoto, Nana;
Honda, Shozo;
Araki, Satoshi;
Mizutani, Shuki;
Numabe, Hironao;
Saitoh, Shinji;
Kosho, Tomoki;
Fukushima, Yoshimitsu;
Mitsubuchi, Hiroshi;
Endo, Fumio;
Chinen, Yasutsugu;
Kosaki, Rika;
Okuyama, Torayuki;
Ohki, Hirotaka

Publication type:

Article

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 5, p. 397, doi. 10.1007/s10038-007-0127-4

By:

Hayashi, Shin;
Honda, Shozo;
Minaguchi, Maki;
Makita, Yoshio;
Okamoto, Nobuhiko;
Kosaki, Rika;
Okuyama, Torayuki;
Imoto, Issei;
Mizutani, Shuki;
Inazawa, Johji

Publication type:

Article

Congenital Hypothyroidism in Peters Plus Syndrome.

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 2, p. 67, doi. 10.1080/13816810600678170

By:

Kosaki, Rika;
Kamiishi, Akiko;
Sugiyama, Ryusuke;
Kawai, Masataka;
Hasegawa, Tomonobu;
Kosaki, Kenjiro

Publication type:

Article

A novel mutation in the FOXL2 gene in a patient with blepharophimosissyndrome: Differential role of the polyalanine tract in the development ofthe ovary and the eyelid.

Published in:

Ophthalmic Genetics, 2002, v. 23, n. 1, p. 043, doi. 10.1076/opge.23.1.43.2202

By:

Kosaki, Kenjiro;
Ogata, Tsutomu;
Kosaki, Rika;
Sato, Seiji;
Matsuo, Nobutake

Publication type:

Article

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report.

Published in:

Oral Science International, 2018, v. 15, n. 2, p. 90, doi. 10.1016/S1348-8643(18)30008-9

By:

Kusano, Chieko;
Hori, Naoaki;
Izawa, Kazumi;
Kosaki, Rika;
Nishimura, Gen;
Hasegawa, Tomonobu

Publication type:

Article

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3505, doi. 10.1002/ajmg.a.62926

By:

Shiohama, Tadashi;
Fujii, Katsunori;
Kosaki, Rika;
Watanabe, Yoshimi;
Uchida, Tomoko;
Hagiwara, Sho;
Kinoshita, Kaori;
Sugita, Katsuo;
Aoki, Yoko;
Shimojo, Naoki

Publication type:

Article

Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2246, doi. 10.1002/ajmg.a.62733

By:

Maruwaka, Kaori;
Nakajima, Yoko;
Yamada, Takaharu;
Tanaka, Taihei;
Kosaki, Rika;
Inagaki, Hidehito;
Kosaki, Kenjiro;
Kurahashi, Hiroki

Publication type:

Article

Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1601, doi. 10.1002/ajmg.a.61589

By:

Kosaki, Rika;
Kubota, Masaya;
Uehara, Tomoko;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kosaki, Kenjiro

Publication type:

Article

Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1657, doi. 10.1002/ajmg.a.38833

By:

Kosaki, Rika;
Ono, Hiroshi;
Terashima, Hiroshi;
Kosaki, Kenjiro

Publication type:

Article

Biallelic mutations in <italic>LARS2</italic> can cause Perrault syndrome type 2 with neurologic symptoms.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 404, doi. 10.1002/ajmg.a.38552

By:

Kosaki, Rika;
Horikawa, Reiko;
Fujii, Eriko;
Kosaki, Kenjiro

Publication type:

Article

The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 966, doi. 10.1002/ajmg.a.38132

By:

Takahashi, Ken;
Sasaki, Aiko;
Wada, Seiji;
Wada, Yuka;
Tsukamoto, Keiko;
Kosaki, Rika;
Ito, Yushi;
Sago, Haruhiko

Publication type:

Article

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 250, doi. 10.1002/ajmg.a.37995

By:

Kosaki, Rika;
Terashima, Hiroshi;
Kubota, Masaya;
Kosaki, Kenjiro

Publication type:

Article

A female newborn having mosaicism with near-tetraploidy and trisomy 18.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1262, doi. 10.1002/ajmg.a.37558

By:

Wada, Yuka;
Kakiuchi, Satsuki;
Mizuguchi, Koichi;
Nakamura, Tomoo;
Ito, Yushi;
Sago, Haruhiko;
Kosaki, Rika

Publication type:

Article

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 908, doi. 10.1002/ajmg.a.37496

By:

Watanabe, Satoshi;
Shimizu, Kenji;
Ohashi, Hirofumi;
Kosaki, Rika;
Okamoto, Nobuhiko;
Shimojima, Keiko;
Yamamoto, Toshiyuki;
Chinen, Yasutsugu;
Mizuno, Seiji;
Dowa, Yuri;
Shiomi, Natsuko;
Toda, Yoshihiro;
Tashiro, Katsuya;
Shichijo, Koichi;
Minatozaki, Kazunori;
Aso, Seijiro;
Minagawa, Kyoko;
Hiraki, Yoko;
Shimokawa, Osamu;
Matsumoto, Tadashi

Publication type:

Article

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2822, doi. 10.1002/ajmg.a.37275

By:

Takenouchi, Toshiki;
Kosaki, Rika;
Niizuma, Takahiro;
Hata, Kenichiro;
Kosaki, Kenjiro

Publication type:

Article

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 907, doi. 10.1002/ajmg.a.36947

By:

Takenouchi, Toshiki;
Sakamoto, Yoshiaki;
Torii, Chiharu;
Hata, Kenichiro;
Kosaki, Rika;
Kosaki, Kenjiro

Publication type:

Article

Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 156, doi. 10.1002/ajmg.a.36823

By:

Takenouchi, Toshiki;
Ohyagi, Masaki;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2869, doi. 10.1002/ajmg.a.36705

By:

Takenouchi, Toshiki;
Sakamoto, Yoshiaki;
Miwa, Tomoru;
Torii, Chiharu;
Kosaki, Rika;
Kishi, Kazuo;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2679, doi. 10.1002/ajmg.a.36671

By:

Takenouchi, Toshiki;
Tsukahara, Yuki;
Horikawa, Reiko;
Kosaki, Kenjiro;
Kosaki, Rika

Publication type:

Article

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433

By:

Narumi, Yoko;
Nishina, Sachiko;
Tokimitsu, Motoharu;
Aoki, Yoko;
Kosaki, Rika;
Wakui, Keiko;
Azuma, Noriyuki;
Murata, Toshinori;
Takada, Fumio;
Fukushima, Yoshimitsu;
Kosho, Tomoki

Publication type:

Article

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 993, doi. 10.1002/ajmg.a.36364

By:

Kosaki, Rika;
Takenouchi, Toshiki;
Takeda, Noriko;
Kagami, Masayo;
Nakabayashi, Kazuhiko;
Hata, Kenichiro;
Kosaki, Kenjiro

Publication type:

Article

1p34.3 deletion involving GRIK 3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 456, doi. 10.1002/ajmg.a.36240

By:

Takenouchi, Toshiki;
Hashida, Noriko;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 392, doi. 10.1002/ajmg.a.36288

By:

Takenouchi, Toshiki;
Shimizu, Atsushi;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Saya, Hideyuki;
Kosaki, Kenjiro

Publication type:

Article

Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 264, doi. 10.1002/ajmg.a.36185

By:

Sasaki, Aiko;
Sumie, Masahiro;
Wada, Seiji;
Kosaki, Rika;
Kurosawa, Kenji;
Fukami, Maki;
Sago, Haruhiko;
Ogata, Tsutomu;
Kagami, Masayo

Publication type:

Article

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3057, doi. 10.1002/ajmg.a.36157

By:

Takenouchi, Toshiki;
Hida, Mariko;
Sakamoto, Yoshiaki;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Daytime somnolence in an adult with smith-magenis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1803, doi. 10.1002/ajmg.a.35936

By:

Takenouchi, Toshiki;
Saito, Hideyuki;
Oishi, Naoki;
Fukushima, Hiroyuki;
Kosaki, Rika;
Torii, Chiharu;
Takahashi, Takao;
Kenjiro, Kosaki

Publication type:

Article

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2537, doi. 10.1002/ajmg.a.35465

By:

Takenouchi, Toshiki;
Okuno, Hironobu;
Kosaki, Rika;
Ariyasu, Daisuke;
Torii, Chiharu;
Momoshima, Suketaka;
Harada, Naoki;
Yoshihashi, Hiroshi;
Takahashi, Takao;
Awazu, Midori;
Kosaki, Kenjiro

Publication type:

Article

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2621, doi. 10.1002/ajmg.a.35230

By:

Takenouchi, Toshiki;
Yagihashi, Tatsuhiko;
Tsuchiya, Hiroyuki;
Torii, Chiharu;
Hayashi, Kumiko;
Kosaki, Rika;
Saitoh, Shinji;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1724, doi. 10.1002/ajmg.a.35412

By:

Kosaki, Rika;
Nagao, Kazuaki;
Kameyama, Kohzoh;
Suzuki, Maiko;
Fujii, Katsunori;
Miyashita, Toshiyuki

Publication type:

Article

EEC syndrome-like phenotype in a patient with an IRF6 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1219, doi. 10.1002/ajmg.a.35273

By:

Kosaki, Rika;
Kaneko, Tsuyoshi;
Torii, Chiharu;
Kosaki, Kenjiro

Publication type:

Article

Ophthalmic features of CHARGE syndrome with CHD7 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 514, doi. 10.1002/ajmg.a.34400

By:

Nishina, Sachiko;
Kosaki, Rika;
Yagihashi, Tatsuhiko;
Azuma, Noriyuki;
Okamoto, Nobuhiko;
Hatsukawa, Yoshikazu;
Kurosawa, Kenji;
Yamane, Takahiro;
Mizuno, Seiji;
Tsuzuki, Kinichi;
Kosaki, Kenjiro

Publication type:

Article

Potocki‐Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.

Published in:

2023

By:

Yaga, Takeshi;
Iguchi, Akihiro;
Nakayama, Robert;
Kosaki, Rika;
Ishiguro, Akira

Publication type:

Case Study

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Published in:

Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15120

By:

Hideo Kaneko;
Minoru Takemoto;
Hiroaki Murakami;
Kenji Ihara;
Rika Kosaki;
Sei-ichiro Motegi;
Akira Taniguchi;
Muneaki Matsuo;
Naoya Yamazaki;
Chikako Nishigori;
Junko Takita;
Masaya Koshizaka;
Yoshiro Maezawa;
Koutaro Yokote

Publication type:

Article

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.

Published in:

2018

By:

Ichimiya, Yuko;
Wada, Yuka;
Kunishima, Shinji;
Tsukamoto, Keiko;
Kosaki, Rika;
Sago, Haruhiko;
Ishiguro, Akira;
Ito, Yushi

Publication type:

journal article

Trisomy 9 Mosaicism Diagnosed In Utero.

Published in:

2010

By:

Takahashi, Hironori;
Hayashi, Satoshi;
Miura, Yumiko;
Tsukamoto, Keiko;
Kosaki, Rika;
Itoh, Yushi;
Sago, Haruhiko

Publication type:

Case Study

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/ foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 125, doi. 10.1186/s13023-014-0125-5

By:

Eiko Nagata;
Hiroki Kano;
Fumiko Kato;
Rie Yamaguchi;
Shinichi Nakashima;
Shinichiro Takayama;
Rika Kosaki;
Hidefumi Tonoki;
Seiji Mizuno;
Satoshi Watanabe;
Koh-ichiro Yoshiura;
Tomoki Kosho;
Tomonobu Hasegawa;
Mamori Kimizuka;
Atsushi Suzuki;
Kenji Shimizu;
Hirofumi Ohashi;
Nobuhiko Haga;
Hironao Numabe;
Emiko Horii

Publication type:

Article

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.

Published in:

2014

By:

Nagata, Eiko;
Kano, Hiroki;
Kato, Fumiko;
Yamaguchi, Rie;
Nakashima, Shinichi;
Takayama, Shinichiro;
Kosaki, Rika;
Tonoki, Hidefumi;
Mizuno, Seiji;
Watanabe, Satoshi;
Yoshiura, Koh-Ichiro;
Kosho, Tomoki;
Hasegawa, Tomonobu;
Kimizuka, Mamori;
Suzuki, Atsushi;
Shimizu, Kenji;
Ohashi, Hirofumi;
Haga, Nobuhiko;
Numabe, Hironao;
Horii, Emiko

Publication type:

journal article

Prenatal diagnosis of fetal skeletal dysplasia with 3D CT.

Published in:

Pediatric Radiology, 2012, v. 42, n. 7, p. 842, doi. 10.1007/s00247-012-2381-7

By:

Miyazaki, Osamu;
Nishimura, Gen;
Sago, Haruhiko;
Horiuchi, Tetsuya;
Hayashi, Satoshi;
Kosaki, Rika

Publication type:

Article

Histopathological and Behavioral Improvement of Murine Mucopolysaccharidosis Type VII by Intracerebral Transplantation of Neural Stem Cells.

Published in:

Molecular Therapy, 2006, v. 13, n. 3, p. 548, doi. 10.1016/j.ymthe.2005.09.020

By:

Fukuhara, Yasuyuki;
Li, Xiao-Kang;
Kitazawa, Yusuke;
Inagaki, Masumi;
Matsuoka, Kentaro;
Kosuga, Motomichi;
Kosaki, Rika;
Shimazaki, Takuya;
Endo, Hitoshi;
Umezawa, Akihiro;
Okano, Hideyuki;
Takahashi, Takao;
Okuyama, Torayuki

Publication type:

Article

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.

Published in:

Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01121-6

By:

Kawashima, Sayaka;
Hattori, Atsushi;
Suzuki, Erina;
Matsubara, Keiko;
Toki, Machiko;
Kosaki, Rika;
Hasegawa, Yukihiro;
Nakabayashi, Kazuhiko;
Fukami, Maki;
Kagami, Masayo

Publication type:

Article

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.

Published in:

BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0359-4

By:

Ishimaru, Daichi;
Gotoh, Masanori;
Takayama, Shinichiro;
Kosaki, Rika;
Matsumoto, Yoshihiro;
Narimatsu, Hisashi;
Sato, Takashi;
Kimata, Koji;
Akiyama, Haruhiko;
Shimizu, Katsuji;
Matsumoto, Kazu

Publication type:

Article

The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan.

Published in:

Congenital Anomalies, 2022, v. 62, n. 4, p. 161, doi. 10.1111/cga.12471

By:

Hatakeyama, Shiro;
Goto, Mikako;
Yamamoto, Ayaka;
Ogura, Jiro;
Watanabe, Norikazu;
Tsutsumi, Seiji;
Yakuwa, Naho;
Yamane, Ritsuko;
Nagase, Satoru;
Takahashi, Kunihiko;
Kosaki, Rika;
Murashima, Atsuko;
Yamaguchi, Hiroaki

Publication type:

Article