Pesquisa | BVS Integralidade em Saúde

1.

A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.

Chida-Nagai, Ayako; Tonoki, Hidefumi; Makita, Naomasa; Ishiyama, Hiroyuki; Ihara, Masafumi; Maruo, Yuji; Tsujioka, Takao; Sasaki, Daisuke; Izumi, Gaku; Yamazawa, Hirokuni; Kato, Nobuyasu; Ito, Masaki; Fujimura, Miki; Sasaki, Osamu; Takeda, Atsuhito.

Am J Med Genet A ; 191(12): 2837-2842, 2023 12.

Artigo em Inglês | MEDLINE | ID: mdl-37554039

2.

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.

Higashimoto, Ken; Watanabe, Hijiri; Tanoue, Yuka; Tonoki, Hidefumi; Tokutomi, Tomoharu; Hara, Satoshi; Yatsuki, Hitomi; Soejima, Hidenobu.

J Med Genet ; 58(6): 422-425, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-32447322

3.

A girl presenting with gradually elevated levels of serum creatinine: Questions.

Hamada, Shiori; Kato, Chie; Takahashi, Toshiyuki; Hayashi, Asako; Ueda, Yasuhiro; Sato, Yasuyuki; Tonoki, Hidefumi; Okamoto, Takayuki.

Pediatr Nephrol ; 35(8): 1425, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-31960138

4.

A girl presenting with gradually elevated levels of serum creatinine: Answers.

Hamada, Shiori; Kato, Chie; Takahashi, Toshiyuki; Hayashi, Asako; Ueda, Yasuhiro; Sato, Yasuyuki; Tonoki, Hidefumi; Okamoto, Takayuki.

Pediatr Nephrol ; 35(8): 1427-1428, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-31960139

5.

Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.

Kishimoto, Kenji; Kobayashi, Ryoji; Yonemaru, Nozomi; Yamamoto, Hiroshi; Tsujioka, Takao; Sano, Hirozumi; Suzuki, Daisuke; Yasuda, Kazue; Suzuki, Masahiko; Ando, Akiko; Tonoki, Hidefumi; Iizuka, Susumu; Uetake, Kimiaki; Kobayashi, Kunihiko.

J Pediatr Hematol Oncol ; 37(4): e238-41, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25171454

6.

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.

Maeda, Toshiyuki; Higashimoto, Ken; Jozaki, Kosuke; Yatsuki, Hitomi; Nakabayashi, Kazuhiko; Makita, Yoshio; Tonoki, Hidefumi; Okamoto, Nobuhiko; Takada, Fumio; Ohashi, Hirofumi; Migita, Makoto; Kosaki, Rika; Matsubara, Keiko; Ogata, Tsutomu; Matsuo, Muneaki; Hamasaki, Yuhei; Ohtsuka, Yasufumi; Nishioka, Kenichi; Joh, Keiichiro; Mukai, Tsunehiro; Hata, Kenichiro; Soejima, Hidenobu.

Genet Med ; 16(12): 903-12, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24810686

7.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun-ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi, Nobuhiko; Kubota, Masaya; Ito, Naoko; Ihara, Kenji; Hara, Toshiro; Tonoki, Hidefumi; Ohta, Tohru; Saito, Kayoko; Matsuo, Mari; Urano, Mari; Enokizono, Takashi; Sato, Astushi; Tanaka, Hiroyuki; Ogawa, Atsushi; Fujita, Takako; Hiraki, Yoko; Kitanaka, Sachiko; Matsubara, Yoichi; Makita, Toshio; Taguri, Masataka; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Yoshiura, Ko-ichiro; Matsumoto, Naomichi; Niikawa, Norio.

Am J Med Genet A ; 161A(9): 2234-43, 2013 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-23913813

8.

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.

Yamada, Mamiko; Suzuki, Hisato; Miya, Fuyuki; Kosugiyama, Kiyotaka; Ujiie, Takeshi; Tonoki, Hidefumi; Kosaki, Kenjiro.

Congenit Anom (Kyoto) ; 63(4): 121-124, 2023 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-36946065

9.

Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.

Tonoki, Hidefumi; Harada, Naoki; Shimokawa, Osamu; Yosozumi, Ayako; Monzaki, Kadomi; Satoh, Kohei; Kosaki, Rika; Sato, Atsushi; Matsumoto, Naomichi; Iizuka, Susumu.

Am J Med Genet A ; 155A(12): 2925-32, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-22009788

10.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal, Mark C; Buckingham, Kati J; Ng, Sarah B; Ming, Jeffrey E; Beck, Anita E; McMillin, Margaret J; Gildersleeve, Heidi I; Bigham, Abigail W; Tabor, Holly K; Mefford, Heather C; Cook, Joseph; Yoshiura, Koh-ichiro; Matsumoto, Tadashi; Matsumoto, Naomichi; Miyake, Noriko; Tonoki, Hidefumi; Naritomi, Kenji; Kaname, Tadashi; Nagai, Toshiro; Ohashi, Hirofumi; Kurosawa, Kenji; Hou, Jia-Woei; Ohta, Tohru; Liang, Deshung; Sudo, Akira; Morris, Colleen A; Banka, Siddharth; Black, Graeme C; Clayton-Smith, Jill; Nickerson, Deborah A; Zackai, Elaine H; Shaikh, Tamim H; Donnai, Dian; Niikawa, Norio; Shendure, Jay; Bamshad, Michael J.

Am J Med Genet A ; 155A(7): 1511-6, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21671394

11.

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba, Hideo; Yoshiura, Koh-ichiro; Kondoh, Tatsuro; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Kaname, Tadashi; Naritomi, Kenji; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Kishino, Tatsuya; Kinoshita, Akira; Miyake, Noriko; Matsumoto, Naomichi; Niikawa, Norio.

J Hum Genet ; 54(5): 304-9, 2009 May.

Artigo em Inglês | MEDLINE | ID: mdl-19343044

12.

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.

Artigo em Inglês | MEDLINE | ID: mdl-31332306

13.

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro.

Clin Pediatr Endocrinol ; 26(4): 259-263, 2017.

Artigo em Inglês | MEDLINE | ID: mdl-29026275

14.

Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.

Mishima, Takashi; Watari, Michiko; Iwaki, Yutaka; Nagai, Takumi; Kawamata-Nakamura, Miho; Kobayashi, Yukako; Fujieda, Satoko; Oikawa, Mamoru; Takahashi, Nobuhiro; Keira, Mitsuaki; Yoshida, Hiroshi; Tonoki, Hidefumi.

Congenit Anom (Kyoto) ; 57(2): 61-63, 2017 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-27644460

15.

Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Hishimura, Nozomi; Watari, Michiko; Ohata, Hiroki; Fuseya, Naho; Wakiguchi, Sadae; Tokutomi, Tomoharu; Okuhara, Kouji; Takahashi, Nobuhiro; Iizuka, Susumu; Yamamoto, Hiroshi; Mishima, Takashi; Fujieda, Satoko; Kobayashi, Ryoji; Cho, Kazutoshi; Kuroda, Yukiko; Kurosawa, Kenji; Tonoki, Hidefumi.

Clin Case Rep ; 5(1): 5-8, 2017 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-28096980

16.

Selective Eating in Autism Spectrum Disorder Leading to Kwashiorkor and Brain Edema.

Maruo, Yuji; Egawa, Kiyoshi; Tonoki, Hidefumi; Terae, Satoshi; Ueda, Yuki; Shiraishi, Hideaki.

Pediatr Neurol ; 116: 55-56, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33485032

17.

[Somatic mosaicism in genetic diseases].

Tonoki, Hidefumi.

Nihon Rinsho ; 68 Suppl 8: 38-43, 2010 Aug.

Artigo em Japonês | MEDLINE | ID: mdl-20979267

18.

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

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; Nagai, Toshiro; Yoshihashi, Hiroshi; Nishimura, Gen; Toda, Tatsushi; Takada, Shuji; Yokoyama, Shigetoshi; Asahara, Hiroshi; Sano, Shinichiro; Fukami, Maki; Ikegawa, Shiro; Ogata, Tsutomu.

Orphanet J Rare Dis ; 9: 125, 2014 Oct 21.

Artigo em Inglês | MEDLINE | ID: mdl-25351291

19.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname, Tadashi; Ki, Chang-Seok; Niikawa, Norio; Baillie, George S; Day, Jonathan P; Yamamura, Ken-Ichi; Ohta, Tohru; Nishimura, Gen; Mastuura, Nobuo; Kim, Ok-Hwa; Sohn, Young Bae; Kim, Hyun Woo; Cho, Sung Yoon; Ko, Ah-Ra; Lee, Jin Young; Kim, Hyun Wook; Ryu, Sung Ho; Rhee, Hwanseok; Yang, Kap-Seok; Joo, Keehyoung; Lee, Jooyoung; Kim, Chi Hwa; Cho, Kwang-Hyun; Kim, Dongsan; Yanagi, Kumiko; Naritomi, Kenji; Yoshiura, Ko-Ichiro; Kondoh, Tatsuro; Nii, Eiji; Tonoki, Hidefumi; Houslay, Miles D; Jin, Dong-Kyu.

Cell Signal ; 26(11): 2446-59, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25064455

20.

A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.

Sato, Daisuke; Kawara, Hiroki; Shimokawa, Osamu; Harada, Naoki; Tonoki, Hidefumi; Takahashi, Nobuhiro; Imai, Yumi; Kimura, Hiromi; Matsumoto, Naomichi; Ariga, Tadashi; Niikawa, Norio; Yoshiura, Koh-ichiro.

Am J Med Genet A ; 146A(1): 124-7, 2008 Jan 01.

Artigo em Inglês | MEDLINE | ID: mdl-18074380

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