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Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Published in:
Clinical Genetics, 2017, v. 92, n. 2, p. 180, doi. 10.1111/cge.12991
By:
- Iwama, Kazuhiro;
- Mizuguchi, Takeshi;
- Takanashi, Jun‐ichi;
- Shibayama, Hidehiro;
- Shichiji, Minobu;
- Ito, Susumu;
- Oguni, Hirokazu;
- Yamamoto, Toshiyuki;
- Sekine, Akiko;
- Nagamine, Shun;
- Ikeda, Yoshio;
- Nishida, Hiroya;
- Kumada, Satoko;
- Yoshida, Takeshi;
- Awaya, Tomonari;
- Tanaka, Ryuta;
- Chikuchi, Ryo;
- Niwa, Hisayoshi;
- Oka, Yu‐ichi;
- Miyatake, Satoko
Publication type:
Article
Long‐term clinical observation of patients with heterozygous KIF1A variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63656
By:
- Kawashima, Aritomo;
- Kodama, Kaori;
- Okubo, Yukimune;
- Endo, Wakaba;
- Inui, Takehiko;
- Ikeda, Miki;
- Katata, Yu;
- Togashi, Noriko;
- Ohba, Chihiro;
- Imagawa, Eri;
- Iwama, Kazuhiro;
- Mizuguchi, Takeshi;
- Kitami, Masahiro;
- Aihara, Yu;
- Takayama, Jun;
- Tamiya, Gen;
- Kikuchi, Atsuo;
- Kure, Shigeo;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi
Publication type:
Article
Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration.
Published in:
Neurology & Clinical Neuroscience, 2020, v. 8, n. 5, p. 332, doi. 10.1111/ncn3.12427
By:
- Umehara, Fujio;
- Iwama, Kazuhiro;
- Mizuguchi, Takeshi;
- Matsumoto, Naomichi
Publication type:
Article
Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1.
Published in:
Clinical Case Reports, 2022, v. 10, n. 5, p. 1, doi. 10.1002/ccr3.5811
By:
- Yoshida, Syun;
- Amamoto, Masano;
- Takahashi, Tomoyuki;
- Tomita, Ichiro;
- Yuge, Kotaro;
- Hara, Munetsugu;
- Iwama, Kazuhiro;
- Matsumoto, Naomichi;
- Matsuishi, Toyojiro
Publication type:
Article
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 722, doi. 10.1111/cge.14066
By:
- Saida, Ken;
- Tamaoki, Junya;
- Sasaki, Masayuki;
- Haniffa, Muzhirah;
- Koshimizu, Eriko;
- Sengoku, Toru;
- Maeda, Hiroki;
- Kikuchi, Masahiro;
- Yokoyama, Haruna;
- Sakamoto, Masamune;
- Iwama, Kazuhiro;
- Sekiguchi, Futoshi;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Mizuguchi, Takeshi;
- Ogata, Kazuhiro;
- Miyake, Noriko;
- Miyatake, Satoko;
- Kobayashi, Makoto;
- Matsumoto, Naomichi
Publication type:
Article
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Published in:
2021
By:
- Spinelli, Egidio;
- Christensen, Kyle R.;
- Bryant, Emily;
- Schneider, Amy;
- Rakotomamonjy, Jennifer;
- Muir, Alison M.;
- Giannelli, Jessica;
- Littlejohn, Rebecca O.;
- Roeder, Elizabeth R.;
- Schmidt, Berkley;
- Wilson, William G.;
- Marco, Elysa J.;
- Iwama, Kazuhiro;
- Kumada, Satoko;
- Pisano, Tiziana;
- Barba, Carmen;
- Vetro, Annalisa;
- Brilstra, Eva H.;
- van Jaarsveld, Richard H.;
- Matsumoto, Naomichi
Publication type:
journal article
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 111, doi. 10.1111/dmcn.14666
By:
- Sasaki, Masayuki;
- Sumitomo, Noriko;
- Shimizu‐Motohashi, Yuko;
- Takeshita, Eri;
- Kurosawa, Kenji;
- Kosaki, Kenjiro;
- Iwama, Kazuhiro;
- Mizuguchi, Takeshi;
- Matsumoto, Naomichi
Publication type:
Article
Nonsense variants of STAG2 result in distinct congenital anomalies.
Published in:
Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00114-w
By:
- Aoi, Hiromi;
- Lei, Ming;
- Mizuguchi, Takeshi;
- Nishioka, Nobuko;
- Goto, Tomohide;
- Miyama, Sahoko;
- Suzuki, Toshifumi;
- Iwama, Kazuhiro;
- Uchiyama, Yuri;
- Mitsuhashi, Satomi;
- Itakura, Atsuo;
- Takeda, Satoru;
- Matsumoto, Naomichi
Publication type:
Article
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224
By:
- Sakamoto, Masamune;
- Sasaki, Kazunori;
- Sugie, Atsushi;
- Nitta, Yohei;
- Kimura, Tetsuaki;
- Gürsoy, Semra;
- Cinleti, Tayfun;
- Iai, Mizue;
- Sengoku, Toru;
- Ogata, Kazuhiro;
- Suzuki, Atsushi;
- Okamoto, Nobuhiko;
- Iwama, Kazuhiro;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Miyatake, Satoko;
- Mizuguchi, Takeshi
Publication type:
Article
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 14, p. 2319, doi. 10.1093/hmg/ddz066
By:
- Hamanaka, Kohei;
- Takata, Atsushi;
- Uchiyama, Yuri;
- Miyatake, Satoko;
- Miyake, Noriko;
- Mitsuhashi, Satomi;
- Iwama, Kazuhiro;
- Fujita, Atsushi;
- Imagawa, Eri;
- Alkanaq, Ahmed N;
- Koshimizu, Eriko;
- Azuma, Yoshiki;
- Nakashima, Mitsuko;
- Mizuguchi, Takeshi;
- Saitsu, Hirotomo;
- Wada, Yuka;
- Minami, Sawako;
- Katoh-Fukui, Yuko;
- Masunaga, Yohei;
- Fukami, Maki
Publication type:
Article
A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins.
Published in:
Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00266-z
By:
- Kishio, Nozomu;
- Iwama, Kazuhiro;
- Nakanishi, Sayuri;
- Shindo, Ryosuke;
- Yasui, Masaki;
- Nicho, Naoki;
- Takahashi, Atsushi;
- Kohara, Mana;
- Hirata, Michisato;
- Kemmotsu, Takahiro;
- Tanoshima, Miki;
- Ito, Shuichi
Publication type:
Article
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 50, doi. 10.1002/humu.24129
By:
- Uchiyama, Yuri;
- Yamaguchi, Daisuke;
- Iwama, Kazuhiro;
- Miyatake, Satoko;
- Hamanaka, Kohei;
- Tsuchida, Naomi;
- Aoi, Hiromi;
- Azuma, Yoshiteru;
- Itai, Toshiyuki;
- Saida, Ken;
- Fukuda, Hiromi;
- Sekiguchi, Futoshi;
- Sakaguchi, Tomohiro;
- Lei, Ming;
- Ohori, Sachiko;
- Sakamoto, Masamune;
- Kato, Mitsuhiro;
- Koike, Takayoshi;
- Takahashi, Yukitoshi;
- Tanda, Koichi
Publication type:
Article

Found: 12