Works by Kosaki, Rika

Results: 70

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

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.

Published in:

Congenital Anomalies, 2014, v. 54, n. 4, p. 225, doi. 10.1111/cga.12065

By:

Yagihashi, Tatsuhiko;
Torii, Chiharu;
Takahashi, Reiko;
Omori, Mikimasa;
Kosaki, Rika;
Yoshihashi, Hiroshi;
Ihara, Masahiro;
Minagawa-Kawai, Yasuyo;
Yamamoto, Junichi;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.

Published in:

Congenital Anomalies, 2012, v. 52, n. 2, p. 82, doi. 10.1111/j.1741-4520.2012.00356.x

By:

Yagihashi, Tatsuhiko;
Kosaki, Kenjiro;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Kurosawa, Kenji;
Takahashi, Takao;
Sato, Yuji;
Kosaki, Rika

Publication type:

Article

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.

Published in:

Congenital Anomalies, 2006, v. 46, n. 2, p. 115, doi. 10.1111/j.1741-4520.2006.00111.x

By:

Kosaki, Rika;
Hanai, Sae;
Kakishima, Hiroki;
Okada, Michiyo A.;
Hayashi, Satoshi;
Ito, Yushi;
Takahashi, Takao;
Kosaki, Kenjiro;
Okuyama, Torayuki

Publication type:

Article

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Published in:

Congenital Anomalies, 2005, v. 45, n. 4, p. 125, doi. 10.1111/j.1741-4520.2005.00081.x

By:

Udaka, Toru;
Samejima, Hazuki;
Kosaki, Rika;
Kurosawa, Kenji;
Okamoto, Nobuhiko;
Mizuno, Seiji;
Makita, Yoshio;
Numabe, Hironao;
Toral, Joaquín Fernández;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.

Published in:

Congenital Anomalies, 2005, v. 45, n. 2, p. 62, doi. 10.1111/j.1741-4520.2005.00065.x

By:

Kosaki, Rika;
Kosaki, Kenjiro;
Matsushima, Kazushige;
Mitsui, Norimasa;
Matsumoto, Naomichi;
Ohashi, Hirofumi

Publication type:

Article

Deletion involving theTWISTlocus and theHOXAcluster: A contiguous gene syndrome on 7p?

Published in:

Congenital Anomalies, 2005, v. 45, n. 1, p. 35, doi. 10.1111/j.1741-4520.2005.00059.x

By:

Kosaki, Rika;
Higuchi, Masataka;
Mitsui, Norimasa;
Matsushima, Kazushige;
Ohashi, Hirofumi;
Kosaki, Kenjiro

Publication type:

Article

Position-specific expression ofHoxgenes along the gastrointestinal tract.

Published in:

Congenital Anomalies, 2004, v. 44, n. 1, p. 18, doi. 10.1111/j.1741-4520.2003.00004.x

By:

Yahagi, Naohisa;
Kosaki, Rika;
Ito, Taichi;
Mitsuhashi, Takayuki;
Shimada, Hiroyuki;
Tomita, Masaru;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

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

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

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.

Published in:

Experimental Dermatology, 2011, v. 20, n. 1, p. 74, doi. 10.1111/j.1600-0625.2010.01177.x

By:

Natsuga, Ken;
Nishie, Wataru;
Shinkuma, Satoru;
Nakamura, Hideki;
Arita, Ken;
Yoneda, Kozo;
Kusaka, Takashi;
Yanagihara, Toshihiro;
Kosaki, Rika;
Sago, Haruhiko;
Akiyama, Masashi;
Shimizu, Hiroshi

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

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

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

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing.

Published in:

Geriatrics & Gerontology International, 2025, v. 25, n. 3, p. 468, doi. 10.1111/ggi.15094

By:

Sato, Tetta;
Maezawa, Yoshiro;
Kato, Hisaya;
Shoji, Mayumi;
Maeda, Yukari;
Kaneko, Hiyori;
Aono, Kazuto;
Kubota, Yoshitaka;
Taniguchi, Toshibumi;
Oshitari, Toshiyuki;
Motegi, Sei‐Ichiro;
Takami, Yoichi;
Nakagami, Hironori;
Taniguchi, Akira;
Watanabe, Kazuhisa;
Takemoto, Minoru;
Koshizaka, Masaya;
Kosaki, Rika;
Matsuo, Muneaki;
Kaneko, Hideo

Publication type:

Article

Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6.

Published in:

Pigment Cell & Melanoma Research, 2022, v. 35, n. 2, p. 212, doi. 10.1111/pcmr.13024

By:

Saito, Toru;
Okamura, Ken;
Kosaki, Rika;
Wakamatsu, Kazumasa;
Ito, Shosuke;
Nakajima, Osamu;
Yamashita, Hidetoshi;
Hozumi, Yutaka;
Suzuki, Tamio

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

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

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

Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant.

Published in:

Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 719, doi. 10.1002/mdc3.13701

By:

Murofushi, Yuka;
Hayakawa, Itaru;
Kawai, Michiko;
Abe, Yuichi;
Kosaki, Rika;
Suzuki, Hisato;
Takenouchi, Toshiki;
Kubota, Masaya

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

A de novo mutation (R279C) in theP63 gene in a patient with EEC syndrome.

Published in:

Clinical Genetics, 2001, v. 60, n. 4, p. 314, doi. 10.1034/j.1399-0004.2001.600411.x

By:

Kosaki, Rika;
Ohashi, Hirofumi;
Yoshihashi, Hiroshi;
Suzuki, Taichi;
Kosaki, Kenjiro

Publication type:

Article

Immunohistochemical evidence for the brevican-tenascin-R interaction: Colocalization in perineuronal nets suggests a physiological role for the interaction in the adult rat brain.

Published in:

Journal of Comparative Neurology, 1999, v. 410, n. 2, p. 256, doi. 10.1002/(SICI)1096-9861(19990726)410:2<256::AID-CNE7>3.0.CO;2-5

By:

Hagihara, Kazuki;
Miura, Ryu;
Kosaki, Rika;
Berglund, Erik;
Ranscht, Barbara;
Yamaguchi, Yu

Publication type:

Article

Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 967, doi. 10.1007/s10875-021-00977-w

By:

Ishikawa, Takashi;
Tamura, Eiichiro;
Kasahara, Mureo;
Uchida, Hajime;
Higuchi, Masataka;
Kobayashi, Hisato;
Shimizu, Hirotaka;
Ogawa, Eiki;
Yotani, Nobuyuki;
Irie, Rie;
Kosaki, Rika;
Kosaki, Kenjiro;
Uchiyama, Toru;
Onodera, Masafumi;
Kawai, Toshinao

Publication type:

Article

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 851, doi. 10.1007/s10875-020-00808-4

By:

Saettini, Francesco;
Herriot, Richard;
Prada, Elisabetta;
Nizon, Mathilde;
Zama, Daniele;
Marzollo, Antonio;
Romaniouk, Igor;
Lougaris, Vassilios;
Cortesi, Manuela;
Morreale, Alessia;
Kosaki, Rika;
Cardinale, Fabio;
Ricci, Silvia;
Domínguez-Garrido, Elena;
Montin, Davide;
Vincent, Marie;
Milani, Donatella;
Biondi, Andrea;
Gervasini, Cristina;
Badolato, Raffaele

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

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