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1.

Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.

Takeuchi, Ichiro; Tanase-Nakao, Kanako; Ogawa, Ayame; Sugawara, Tohru; Migita, Osuke; Kashima, Makoto; Yamazaki, Touko; Iguchi, Akihiro; Naiki, Yasuhiro; Uchiyama, Toru; Tamaoki, Junya; Maeda, Hiroki; Shimizu, Hirotaka; Kawai, Toshinao; Taniguchi, Kosuke; Hirata, Hiromi; Kobayashi, Makoto; Matsumoto, Kimikazu; Naruse, Kiyoshi; Hata, Kenichiro; Akutsu, Hidenori; Kato, Takashi; Narumi, Satoshi; Arai, Katsuhiro; Ishiguro, Akira.

J Med Genet ; 61(3): 239-243, 2024 Feb 21.

Artículo en Inglés | MEDLINE | ID: mdl-37833059

2.

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

Narumi, Satoshi; Opitz, Robert; Nagasaki, Keisuke; Muroya, Koji; Asakura, Yumi; Adachi, Masanori; Abe, Kiyomi; Sugisawa, Chiho; Kühnen, Peter; Ishii, Tomohiro; Nöthen, Markus M; Krude, Heiko; Hasegawa, Tomonobu.

Hum Mol Genet ; 31(23): 3967-3974, 2022 11 28.

Artículo en Inglés | MEDLINE | ID: mdl-35535691

3.

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.

Nakagawa, Ryuichi; Takasawa, Kei; Gau, Maki; Tsuji-Hosokawa, Atsumi; Kawaji, Hideya; Murakawa, Yasuhiro; Takada, Shuji; Mikami, Masashi; Narumi, Satoshi; Fukami, Maki; Sreenivasan, Rajini; Maruyama, Tetsuo; Tucker, Elena J; Zhao, Liang; Bowles, Josephine; Sinclair, Andrew; Koopman, Peter; Hayashizaki, Yoshihide; Morio, Tomohiro; Kashimada, Kenichi.

Hum Mol Genet ; 31(13): 2223-2235, 2022 07 07.

Artículo en Inglés | MEDLINE | ID: mdl-35134173

4.

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.

Hirai, Maiko; Yagasaki, Hiroshi; Kanezawa, Koji; Ueno, Masaru; Shimozawa, Katsuyoshi; Imai, Kohsuke; Morio, Tomohiro; Kato, Motohiro; Gocho, Yoshihiro; Narumi, Satoshi; Ebihara, Yasuhiro; Morioka, Ichiro.

J Pediatr Hematol Oncol ; 45(2): e290-e293, 2023 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-36730951

5.

Genome-wide association studies for thyroid physiology and diseases.

Narumi, Satoshi.

Endocr J ; 70(1): 9-17, 2023 Jan 30.

Artículo en Inglés | MEDLINE | ID: mdl-36477371

6.

Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.

Kyodo, Reiko; Takeuchi, Ichiro; Narumi, Satoshi; Shimizu, Hirotaka; Hata, Kenichiro; Yoshioka, Takako; Tanase-Nakao, Kanako; Shimizu, Toshiaki; Arai, Katsuhiro.

Clin Immunol ; 238: 109015, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35429653

7.

Achievement of Developmental Milestones Recorded in Real Time: A Mobile App-Based Study.

Matsubara, Keiko; Hattori, Tomoyuki; Narumi, Satoshi.

J Pediatr ; 245: 201-207.e9, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35182581

8.

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Sugisawa, Chiho; Taniyama, Matsuo; Sato, Takeshi; Takahashi, Yasuyoshi; Hasegawa, Tomonobu; Narumi, Satoshi.

Endocr J ; 69(7): 831-838, 2022 Jul 28.

Artículo en Inglés | MEDLINE | ID: mdl-35236788

9.

Discovery of MIRAGE syndrome.

Narumi, Satoshi.

Pediatr Int ; 64(1): e15283, 2022 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-35972063

10.

The Patterning and Proportion of Charged Residues in the Arginine-Rich Mixed-Charge Domain Determine the Membrane-Less Organelle Targeted by the Protein.

Miyagi, Tamami; Yamazaki, Rio; Ueda, Koji; Narumi, Satoshi; Hayamizu, Yuhei; Uji-I, Hiroshi; Kuroda, Masahiko; Kanekura, Kohsuke.

Int J Mol Sci ; 23(14)2022 Jul 11.

Artículo en Inglés | MEDLINE | ID: mdl-35887012

11.

An improved macromolecular crowding sensor CRONOS for detection of crowding changes in membrane-less organelles under stressed conditions.

Miyagi, Tamami; Yamanaka, Yoshiaki; Harada, Yuichiro; Narumi, Satoshi; Hayamizu, Yuhei; Kuroda, Masahiko; Kanekura, Kohsuke.

Biochem Biophys Res Commun ; 583: 29-34, 2021 Oct 27.

Artículo en Inglés | MEDLINE | ID: mdl-34717122

12.

Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.

Ushijima, Kikumi; Ogawa, Yuya; Terao, Miho; Asakura, Yumi; Muroya, Koji; Hayashi, Mie; Ishii, Tomohiro; Hasegawa, Tomonobu; Sekido, Ryohei; Fukami, Maki; Takada, Shuji; Narumi, Satoshi.

Am J Med Genet A ; 185(4): 1067-1075, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33399274

13.

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.

Yoshida, Masanori; Tanase-Nakao, Kanako; Shima, Hirohito; Shirai, Ryota; Yoshida, Kaoru; Osumi, Tomoo; Deguchi, Takao; Mori, Makiko; Arakawa, Yuki; Takagi, Masatoshi; Miyamura, Takako; Sakaguchi, Kimiyoshi; Toyoda, Hidemi; Ishida, Hisashi; Sakata, Naoki; Imamura, Toshihiko; Kawahara, Yuta; Morimoto, Akira; Koike, Takashi; Yagasaki, Hiroshi; Ito, Shuichi; Tomizawa, Daisuke; Kiyokawa, Nobutaka; Narumi, Satoshi; Kato, Motohiro.

Br J Haematol ; 191(5): 835-843, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32770553

14.

SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins.

Akiba, Kazuhisa; Narumi, Satoshi; Nishimura, Riko; Kato-Fukui, Yuko; Takada, Shuji; Hasegawa, Yukihiro; Fukami, Maki.

Mol Reprod Dev ; 87(11): 1124-1125, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-33022123

15.

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.

Inoue, Takanobu; Yagasaki, Hideaki; Nishioka, Junko; Nakamura, Akie; Matsubara, Keiko; Narumi, Satoshi; Nakabayashi, Kazuhiko; Yamazawa, Kazuki; Fuke, Tomoko; Oka, Akira; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo.

J Med Genet ; 56(6): 413-418, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30242100

16.

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.

Ishiwa, Sho; Kamei, Koichi; Tanase-Nakao, Kanako; Shibata, Shinsuke; Matsunami, Kunihiro; Takeuchi, Ichiro; Sato, Mai; Ishikura, Kenji; Narumi, Satoshi.

BMC Nephrol ; 21(1): 340, 2020 08 12.

Artículo en Inglés | MEDLINE | ID: mdl-32787808

17.

KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes.

Ushijima, Kikumi; Narumi, Satoshi; Ogata, Tsutomu; Yokota, Ichiro; Sugihara, Shigetaka; Kaname, Tadashi; Horikawa, Yukio; Matsubara, Yoichi; Fukami, Maki; Kawamura, Tomoyuki.

Pediatr Diabetes ; 20(6): 712-719, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31124255

18.

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.

Csillag, Bernhard; Ilencikova, Denisa; Meissl, Manfred; Webersinke, Gerald; Laccone, Franco; Narumi, Satoshi; Haas, Oskar; Duba, Hans-Christoph.

Pediatr Blood Cancer ; 66(4): e27589, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30565860

19.

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima, Hirohito; Koehler, Katrin; Nomura, Yumiko; Sugimoto, Kazuhiko; Satoh, Akira; Ogata, Tsutomu; Fukami, Maki; Jühlen, Ramona; Schuelke, Markus; Mohnike, Klaus; Huebner, Angela; Narumi, Satoshi.

J Med Genet ; 55(2): 81-85, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29175836

20.

Usefulness of a mobile airwayscope with a monitor in examination of the external genitalia of a 483 g female neonate.

Hiraizumi, Tairin; Sato, Takeshi; Kobayashi, Hisato; Arimitsu, Takeshi; Narumi, Satoshi; Ishii, Tomohiro; Hasegawa, Tomonobu.

Pediatr Int ; 66(1): e15759, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38641938

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