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1.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Murakami, Hiroaki; Tsurusaki, Yoshinori; Enomoto, Keisuke; Kuroda, Yukiko; Yokoi, Takayuki; Furuya, Noritaka; Yoshihashi, Hiroshi; Minatogawa, Mari; Abe-Hatano, Chihiro; Ohashi, Ikuko; Nishimura, Naoto; Kumaki, Tatsuro; Enomoto, Yumi; Naruto, Takuya; Iwasaki, Fuminori; Harada, Noriaki; Ishikawa, Aki; Kawame, Hiroshi; Sameshima, Kiyoko; Yamaguchi, Yu; Kobayashi, Masahisa; Tominaga, Makiko; Ishikiriyama, Satoshi; Tanaka, Toshiaki; Suzumura, Hiroshi; Ninomiya, Shinsuke; Kondo, Akane; Kaname, Tadashi; Kosaki, Kenjiro; Masuno, Mitsuo; Kuroki, Yoshikazu; Kurosawa, Kenji.

Am J Med Genet A; 182(10): 2333-2344, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32803813

2.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Miyake, Noriko; Fukai, Ryoko; Ohba, Chihiro; Chihara, Takahiro; Miura, Masayuki; Shimizu, Hiroshi; Kakita, Akiyoshi; Imagawa, Eri; Shiina, Masaaki; Ogata, Kazuhiro; Okuno-Yuguchi, Jiu; Fueki, Noboru; Ogiso, Yoshifumi; Suzumura, Hiroshi; Watabe, Yoshiyuki; Imataka, George; Leong, Huey Yin; Fattal-Valevski, Aviva; Kramer, Uri; Miyatake, Satoko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Sato, Yoshinori; Mitsuhashi, Satomi; Nishino, Ichizo; Kaneko, Naofumi; Nishiyama, Akira; Tamura, Tomohiko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Tanaka, Fumiaki; Saitsu, Hirotomo; Matsumoto, Naomichi.

Am J Hum Genet; 99(4): 950-961, 2016 Oct 06.

Artículo en Inglés | MEDLINE | ID: mdl-27666374

3.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi, Futoshi; Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Teik, Keng Wee; Mizuno, Seiji; Suzumura, Hiroshi; Isidor, Bertrand; Ong, Winnie Peitee; Haniffa, Muzhirah; White, Susan M; Matsuo, Mari; Saito, Kayoko; Phadke, Shubha; Kosho, Tomoki; Yap, Patrick; Goyal, Manisha; Clarke, Lorne A; Sachdev, Rani; McGillivray, George; Leventer, Richard J; Patel, Chirag; Yamagata, Takanori; Osaka, Hitoshi; Hisaeda, Yoshiya; Ohashi, Hirofumi; Shimizu, Kenji; Nagasaki, Keisuke; Hamada, Junpei; Dateki, Sumito; Sato, Takashi; Chinen, Yasutsugu; Awaya, Tomonari; Kato, Takeo; Iwanaga, Kougoro; Kawai, Masahiko; Matsuoka, Takashi; Shimoji, Yoshikazu; Tan, Tiong Yang; Kapoor, Seema; Gregersen, Nerine; Rossi, Massimiliano; Marie-Laure, Mathieu; McGregor, Lesley; Oishi, Kimihiko; Mehta, Lakshmi; Gillies, Greta; Lockhart, Paul J; Pope, Kate; Shukla, Anju; Girisha, Katta Mohan.

J Hum Genet; 64(12): 1173-1186, 2019 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-31530938

4.

SATB2-associated syndrome in patients from Japan: Linguistic profiles.

Yamada, Mamiko; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Yoshihashi, Hiroshi; Suzumura, Hiroshi; Mizuno, Seiji; Kosaki, Kenjiro.

Am J Med Genet A; 179(6): 896-899, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30848049

5.

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Ohishi, Akira; Nishimura, Gen; Kato, Fumiko; Ono, Hiroyuki; Maruwaka, Kaori; Ago, Mako; Suzumura, Hiroshi; Hirose, Etsuko; Uchida, Yuki; Fukami, Maki; Ogata, Tsutomu.

Am J Med Genet A; 173(1): 157-162, 2017 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-27683237

6.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita, Masako; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Hayashi, Shion; Watanabe, Atsushi; Yokozawa, Masato; Suzumura, Hiroshi; Nakahara, Akihiko; Nakano, Yusuke; Hokosaki, Tatsunori; Ohmori, Ayumi; Sawada, Hirofumi; Migita, Ohsuke; Mima, Aya; Lapunzina, Pablo; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Ogata, Tsutomu; Kawame, Hiroshi; Kurosawa, Kenji; Ohashi, Hirofumi; Inoue, Shin-Ichi; Matsubara, Yoichi; Kure, Shigeo; Aoki, Yoko.

Hum Genet; 135(2): 209-22, 2016 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-26714497

7.

Eosinophilic Bloody Stool in a Neonate.

Miyamoto, Manabu; Kato, Masaya; Suzumura, Hiroshi; Yoshihara, Shigemi.

J Pediatr; 236: 322-323, 2021 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-34023344

8.

Retropharyngeal emphysema in a newborn with inspiratory stridor.

Miyamoto, Manabu; Suzumura, Hiroshi; Yoshihara, Shigemi.

Pediatr Int; 63(10): 1249-1250, 2021 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-34254720

9.

Safety of lipid emulsion in very low-birthweight infants according to cytokine level.

Ichikawa, Junko; Ichikawa, Go; Tsuboi, Yayoi; Kuribayashi, Ryota; Watabe, Yoshiyuki; Sairenchi, Toshimi; Suzumura, Hiroshi; Arisaka, Osamu.

Pediatr Int; 58(7): 556-61, 2016 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-26646196

10.

Fetal Bone Formation Is Decreased from Middle Pregnancy to Birth.

Nitta, Akihisa; Suzumura, Hiroshi; Arisaka, Osamu; Miura, Toshihide; Igarashi, Yoshihiko.

Tohoku J Exp Med; 239(2): 147-53, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-27265161

11.

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.

Artículo en Inglés | MEDLINE | ID: mdl-24715670

12.

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.

Fujita, Atsushi; Suzumura, Hiroshi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Harada, Naoki; Matsumoto, Naomichi; Miyake, Noriko.

Am J Med Genet A; 161A(8): 1904-9, 2013 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-23824987

13.

Hypophosphatemia in small for gestational age extremely low birth weight infants receiving parenteral nutrition in the first week after birth.

Ichikawa, Go; Watabe, Yoshiyuki; Suzumura, Hiroshi; Sairenchi, Toshimi; Muto, Takashi; Arisaka, Osamu.

J Pediatr Endocrinol Metab; 25(3-4): 317-21, 2012.

Artículo en Inglés | MEDLINE | ID: mdl-22768663

14.

[Anti RS virus drugs].

Suzumura, Hiroshi.

Nihon Rinsho; 70(4): 574-8, 2012 Apr.

Artículo en Japonés | MEDLINE | ID: mdl-22568137

15.

Thyroxine for transient hypothyroxinemia and cerebral palsy in extremely preterm infants.

Suzumura, Hiroshi; Nitta, Akihisa; Tsuboi, Yayoi; Watabe, Yoshiyuki; Kuribayashi, Ryouta; Arisaka, Osamu.

Pediatr Int; 53(4): 463-7, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-21054676

16.

Type 3 antenatal Bartter syndrome presenting with mild polyuria.

Otsubo, Yuto; Kano, Yuji; Suzumura, Hiroshi; Yoshihara, Shigemi.

BMJ Case Rep; 14(4)2021 Apr 07.

Artículo en Inglés | MEDLINE | ID: mdl-33827883

17.

Cerebro-oculo-facio-skeletal syndrome.

Suzumura, Hiroshi; Arisaka, Osamu.

Adv Exp Med Biol; 685: 210-4, 2010.

Artículo en Inglés | MEDLINE | ID: mdl-20687508

18.

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Inoue, Takanobu; Nakamura, Akie; Iwahashi-Odano, Megumi; Tanase-Nakao, Kanako; Matsubara, Keiko; Nishioka, Junko; Maruo, Yoshihiro; Hasegawa, Yukihiro; Suzumura, Hiroshi; Sato, Seiji; Kobayashi, Yoshiyuki; Murakami, Nobuyuki; Nakabayashi, Kazuhiko; Yamazawa, Kazuki; Fuke, Tomoko; Narumi, Satoshi; Oka, Akira; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo.

Clin Epigenetics; 12(1): 86, 2020 06 16.

Artículo en Inglés | MEDLINE | ID: mdl-32546215

19.

IGF2 Mutations.

Masunaga, Yohei; Inoue, Takanobu; Yamoto, Kaori; Fujisawa, Yasuko; Sato, Yasuhiro; Kawashima-Sonoyama, Yuki; Morisada, Naoya; Iijima, Kazumoto; Ohata, Yasuhisa; Namba, Noriyuki; Suzumura, Hiroshi; Kuribayashi, Ryota; Yamaguchi, Yu; Yoshihashi, Hiroshi; Fukami, Maki; Saitsu, Hirotomo; Kagami, Masayo; Ogata, Tsutomu.

J Clin Endocrinol Metab; 105(1)2020 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-31544945

20.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto, Kaori; Saitsu, Hirotomo; Nishimura, Gen; Kosaki, Rika; Takayama, Shinichiro; Haga, Nobuhiko; Tonoki, Hidefumi; Okumura, Akihisa; Horii, Emiko; Okamoto, Nobuhiko; Suzumura, Hiroshi; Ikegawa, Shiro; Kato, Fumiko; Fujisawa, Yasuko; Nagata, Eiko; Takada, Shuji; Fukami, Maki; Ogata, Tsutomu.

Eur J Hum Genet; 27(12): 1845-1857, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31332306

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