Search | VHL CLAP/WR-PAHO/WHO

1.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

Marafi, Dana; Kozar, Nina; Duan, Ruizhi; Bradley, Stephen; Yokochi, Kenji; Al Mutairi, Fuad; Saadi, Nebal Waill; Whalen, Sandra; Brunet, Theresa; Kotzaeridou, Urania; Choukair, Daniela; Keren, Boris; Nava, Caroline; Kato, Mitsuhiro; Arai, Hiroshi; Froukh, Tawfiq; Faqeih, Eissa Ali; AlAsmari, Ali M; Saleh, Mohammed M; Pinto E Vairo, Filippo; Pichurin, Pavel N; Klee, Eric W; Schmitz, Christopher T; Grochowski, Christopher M; Mitani, Tadahiro; Herman, Isabella; Calame, Daniel G; Fatih, Jawid M; Du, Haowei; Coban-Akdemir, Zeynep; Pehlivan, Davut; Jhangiani, Shalini N; Gibbs, Richard A; Miyatake, Satoko; Matsumoto, Naomichi; Wagstaff, Laura J; Posey, Jennifer E; Lupski, James R; Meijer, Dies; Wagner, Matias.

Am J Hum Genet ; 109(9): 1713-1723, 2022 09 01.

Article in English | MEDLINE | ID: mdl-35948005

2.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Sakamoto, Masamune; Iwama, Kazuhiro; Sasaki, Masayuki; Ishiyama, Akihiko; Komaki, Hirofumi; Saito, Takashi; Takeshita, Eri; Shimizu-Motohashi, Yuko; Haginoya, Kazuhiro; Kobayashi, Tomoko; Goto, Tomohide; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Osaka, Hitoshi; Tohyama, Jun; Kobayashi, Yu; Okamoto, Nobuhiko; Suzuki, Yume; Kumada, Satoko; Inoue, Kenji; Mashimo, Hideaki; Arisaka, Atsuko; Kuki, Ichiro; Saijo, Harumi; Yokochi, Kenji; Kato, Mitsuhiro; Inaba, Yuji; Gomi, Yuko; Saitoh, Shinji; Shirai, Kentaro; Morimoto, Masafumi; Izumi, Yuishin; Watanabe, Yoriko; Nagamitsu, Shin-Ichiro; Sakai, Yasunari; Fukumura, Shinobu; Muramatsu, Kazuhiro; Ogata, Tomomi; Yamada, Keitaro; Ishigaki, Keiko; Hirasawa, Kyoko; Shimoda, Konomi; Akasaka, Manami; Kohashi, Kosuke; Sakakibara, Takafumi; Ikuno, Masashi; Sugino, Noriko; Yonekawa, Takahiro; Gürsoy, Semra.

Genet Med ; 24(12): 2453-2463, 2022 12.

Article in English | MEDLINE | ID: mdl-36305856

3.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake, Satoko; Schneeberger, Sacha; Koyama, Norihisa; Yokochi, Kenji; Ohmura, Kayo; Shiina, Masaaki; Mori, Harushi; Koshimizu, Eriko; Imagawa, Eri; Uchiyama, Yuri; Mitsuhashi, Satomi; Frith, Martin C; Fujita, Atsushi; Satoh, Mai; Taguri, Masataka; Tomono, Yasuko; Takahashi, Keita; Doi, Hiroshi; Takeuchi, Hideyuki; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Tanaka, Fumiaki; Ogata, Kazuhiro; Hennet, Thierry; Matsumoto, Naomichi.

Ann Neurol ; 84(6): 843-853, 2018 12.

Article in English | MEDLINE | ID: mdl-30412317

4.

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Yoshimura, Ayumi; Kibe, Tetsuya; Hasegawa, Hiroshi; Ichida, Kimiyoshi; Koshimizu, Eriko; Miyatake, Satoko; Matsumoto, Naomichi; Yokochi, Kenji.

Neuropediatrics ; 50(2): 126-129, 2019 04.

Article in English | MEDLINE | ID: mdl-30695801

5.

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

Belal, Hazrat; Nakashima, Mitsuko; Matsumoto, Hiroshi; Yokochi, Kenji; Taniguchi-Ikeda, Mariko; Aoto, Kazushi; Amin, Mohammed Badrul; Maruyama, Azusa; Nagase, Hiroaki; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Iijima, Kazumoto; Nonoyama, Shigeaki; Matsumoto, Naomichi; Saitsu, Hirotomo.

Hum Mutat ; 39(8): 1070-1075, 2018 08.

Article in English | MEDLINE | ID: mdl-29768694

6.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka, Kohei; Miyatake, Satoko; Zerem, Ayelet; Lev, Dorit; Blumkin, Luba; Yokochi, Kenji; Fujita, Atsushi; Imagawa, Eri; Iwama, Kazuhiro; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; van der Knaap, Marjo S; Lerman-Sagie, Tally; Matsumoto, Naomichi.

J Hum Genet ; 63(12): 1223-1229, 2018 Dec.

Article in English | MEDLINE | ID: mdl-30258207

7.

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Fukushi, Daisuke; Kurosawa, Kenji; Suzuki, Yasuyo; Suzuki, Kaoru; Yamada, Kenichiro; Watanabe, Seiji; Yokochi, Kenji; Wakamatsu, Nobuaki.

Am J Med Genet A ; 173(8): 2201-2209, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28599099

8.

A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced.

Sugimoto, Mari; Togawa, Takao; Aiba, Kaori; Koyama, Norihisa; Yokochi, Kenji; Murayama, Kei; Ohtake, Akira.

No To Hattatsu ; 49(1): 37-41, 2017 Jan.

Article in Japanese | MEDLINE | ID: mdl-30011153

9.

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

Yamada, Kenichiro; Aiba, Kaori; Kitaura, Yasuyuki; Kondo, Yusuke; Nomura, Noriko; Nakamura, Yuji; Fukushi, Daisuke; Murayama, Kei; Shimomura, Yoshiharu; Pitt, James; Yamaguchi, Seiji; Yokochi, Kenji; Wakamatsu, Nobuaki.

J Med Genet ; 52(10): 691-8, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26251176

10.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda, Yuriko; Haginoya, Kazuhiro; Arai, Hiroshi; Yamaoka, Shigeo; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Yokochi, Kenji; Osaka, Hitoshi; Kato, Mitsuhiro; Matsumoto, Naomichi; Saitsu, Hirotomo.

Am J Hum Genet ; 90(1): 86-90, 2012 Jan 13.

Article in English | MEDLINE | ID: mdl-22209246

11.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda, Yuriko; Haginoya, Kazuhiro; Kato, Mitsuhiro; Osaka, Hitoshi; Yokochi, Kenji; Arai, Hiroshi; Kakita, Akiyoshi; Yamamoto, Takamichi; Otsuki, Yoshiro; Shimizu, Shin-ichi; Wada, Takahito; Koyama, Norihisa; Mino, Yoichi; Kondo, Noriko; Takahashi, Satoru; Hirabayashi, Shinichi; Takanashi, Jun-ichi; Okumura, Akihisa; Kumagai, Toshiyuki; Hirai, Satori; Nabetani, Makoto; Saitoh, Shinji; Hattori, Ayako; Yamasaki, Mami; Kumakura, Akira; Sugo, Yoshinobu; Nishiyama, Kiyomi; Miyatake, Satoko; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi; Saitsu, Hirotomo.

Ann Neurol ; 73(1): 48-57, 2013 Jan.

Article in English | MEDLINE | ID: mdl-23225343

12.

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Yamada, Yasukazu; Nomura, Noriko; Yamada, Kenichiro; Matsuo, Mari; Suzuki, Yuka; Sameshima, Kiyoko; Kimura, Reiko; Yamamoto, Yuto; Fukushi, Daisuke; Fukuhara, Yayoi; Ishihara, Naoko; Nishi, Eriko; Imataka, George; Suzumura, Hiroshi; Hamano, Shin-Ichiro; Shimizu, Kenji; Iwakoshi, Mie; Ohama, Kazunori; Ohta, Akira; Wakamoto, Hiroyuki; Kajita, Mitsuharu; Miura, Kiyokuni; Yokochi, Kenji; Kosaki, Kenjiro; Kuroda, Tatsuo; Kosaki, Rika; Hiraki, Yoko; Saito, Kayoko; Mizuno, Seiji; Kurosawa, Kenji; Okamoto, Nobuhiko; Wakamatsu, Nobuaki.

Am J Med Genet A ; 164A(8): 1899-908, 2014 Aug.

Article in English | MEDLINE | ID: mdl-24715670

13.

Nusinersen helps restore walking ability in childhood spinal muscular atrophy.

Sugimoto, Mari; Aiba, Kaori; Koyama, Norihisa; Yokochi, Kenji; Nishio, Hisahide.

Pediatr Int ; 61(7): 728-729, 2019 Jul.

Article in English | MEDLINE | ID: mdl-31290219

14.

[Cervical myelopathy associated with os odontoideum after botulinum toxin treatment in a patient with cerebral palsy].

Yoshimura, Ayumi; Kibe, Tetsuya; Yokochi, Kenji.

No To Hattatsu ; 46(4): 307-10, 2014 Jul.

Article in Japanese | MEDLINE | ID: mdl-25154230

15.

[Clinical profile of persistent generalized muscle contraction following the insult of developing brain].

Maruyama, Koichi; Iai, Mizue; Arai, Hiroshi; Yokochi, Kenji.

No To Hattatsu ; 46(1): 10-5, 2014 Jan.

Article in Japanese | MEDLINE | ID: mdl-24620424

16.

Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.

Kibe, Tetsuya; Mori, Yuka; Okanishi, Tohru; Shimojima, Keiko; Yokochi, Kenji; Yamamoto, Toshiyuki.

Am J Med Genet A ; 155A(1): 215-20, 2011 Jan.

Article in English | MEDLINE | ID: mdl-21204235

17.

A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.

Aiba, Kaori; Nakamura, Yuji; Sugimoto, Mari; Yatsuka, Yukiko; Okazaki, Yasushi; Murayama, Kei; Ohtake, Akira; Yokochi, Kenji; Saitoh, Shinji.

Eur J Med Genet ; 64(8): 104251, 2021 Aug.

Article in English | MEDLINE | ID: mdl-34051360

18.

Dietary chloride deficiency due to new liquid nutritional products.

Miyahara, Jun; Aramaki, Shuichi; Yokochi, Kenji.

Pediatr Int ; 51(2): 197-200, 2009 Apr.

Article in English | MEDLINE | ID: mdl-19405915

19.

Neonatal MRI in preterm infants with periventricular leukomalacia and mild disability.

Jinnou, Hideo; Kouwaki, Masanori; Kiyosawa, Syusuke; Yokochi, Kenji.

Pediatr Int ; 51(6): 780-5, 2009 Dec.

Article in English | MEDLINE | ID: mdl-19419519

20.

[Cerebral palsy].

Yokochi, Kenji.

No To Hattatsu ; 41(5): 327-33, 2009 Sep.

Article in Japanese | MEDLINE | ID: mdl-19764450

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Latin-American Center for Perinatology, Woman and Reproductive Health

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