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Items: 1 to 20 of 601

1.

Faunistic analyses of fruit fly species (Diptera: Tephritidae) in orchards surrounded by Atlantic Forest fragments in the metropolitan region of Curitiba, Paraná state, Brazil.

Monteiro LB, Tomba JAS, Nishimura G, Monteiro RS, Foelkel E, Lavigne C.

Braz J Biol. 2018 Sep 13. pii: S1519-69842018005023102. doi: 10.1590/1519-6984.178458. [Epub ahead of print]

2.

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T.

J Hum Genet. 2018 Sep 18. doi: 10.1038/s10038-018-0513-0. [Epub ahead of print]

PMID:
30228365
3.

Postoperative Bio-Chemoradiotherapy Using Cetuximab and Docetaxel in Patients With Cis-Platinum-Intolerant Core High-Risk Head and Neck Cancer: Protocol of a Phase 2 Nonrandomized Clinical Trial.

Nishimura G, Hatakeyama H, Shiono O, Taguri M, Komatsu M, Sano D, Sakuma N, Yabuki K, Arai Y, Shibata K, Chiba Y, Tanabe T, Oridate N.

JMIR Res Protoc. 2018 Aug 23;7(8):e11003. doi: 10.2196/11003.

4.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G.

Clin Dysmorphol. 2018 Aug 17. doi: 10.1097/MCD.0000000000000241. [Epub ahead of print] No abstract available.

PMID:
30124491
5.

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

Costain G, Inbar-Feigenberg M, Saleh M, Yaniv-Salem S, Ryan G, Morgen E, Goh ES, Nishimura G, Chitayat D.

J Pediatr Genet. 2018 Sep;7(3):134-137. doi: 10.1055/s-0038-1636995. Epub 2018 Mar 9.

PMID:
30105123
6.

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2.

Fukuma M, Takagi M, Shimazu T, Imamura H, Yagi H, Nishimura G, Hasegawa T.

Clin Pediatr Endocrinol. 2018;27(3):193-196. doi: 10.1297/cpe.27.193. Epub 2018 Jul 31. No abstract available.

7.

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A.

Hum Mutat. 2018 Oct;39(10):1456-1467. doi: 10.1002/humu.23605. Epub 2018 Aug 22.

PMID:
30080953
8.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M.

Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31.

PMID:
30063090
9.

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM.

Clin Genet. 2018 Jul 10. doi: 10.1111/cge.13413. [Epub ahead of print]

PMID:
29987841
10.

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia.

Ichihashi Y, Takagi M, Ishii T, Watanabe K, Nishimura G, Hasegawa T.

Hum Genome Var. 2018 Jun 8;5:12. doi: 10.1038/s41439-018-0012-z. eCollection 2018.

11.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.

J Hum Genet. 2018 Jun 8. doi: 10.1038/s10038-018-0473-4. [Epub ahead of print]

PMID:
29884795
12.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G.

Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31.

13.

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K.

Eur J Med Genet. 2018 Apr 25. pii: S1769-7212(17)30425-1. doi: 10.1016/j.ejmg.2018.04.013. [Epub ahead of print]

PMID:
29704686
14.

Cyclic intravenous pamidronate in a very low-birthweight infant with osteogenesis imperfecta.

Eto S, Hada S, Fukuhara R, Nishimura G, Takagi M.

Pediatr Int. 2018 May;60(5):485-486. doi: 10.1111/ped.13535. Epub 2018 Apr 26. No abstract available.

PMID:
29700899
15.

Predictive value of the Hyodo score in endoscopic evaluation of aspiration during swallowing.

Chiba Y, Sano D, Ikui Y, Nishimura G, Yabuki K, Arai Y, Tanabe T, Ikemiyagi H, Hyakusoku H, Oridate N.

Auris Nasus Larynx. 2018 Dec;45(6):1214-1220. doi: 10.1016/j.anl.2018.03.005. Epub 2018 Apr 20.

PMID:
29685505
16.

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.

J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22.

PMID:
29568001
17.

Familial campomelic dysplasia due to maternal germinal mosaicism.

Higeta D, Yamaguchi R, Takagi T, Nishimura G, Sameshima K, Saito K, Minegishi T.

Congenit Anom (Kyoto). 2018 Mar 14. doi: 10.1111/cga.12279. [Epub ahead of print]

PMID:
29542186
18.

[Efficacy of Palliative Radiotherapy for Unresectable Advanced Gastric Cancer with Bleeding].

Shibamoto J, Takashima Y, Kawamura Y, Nishida M, Onishi M, Hiramoto H, Ochi F, Tsujiura M, Nakashima S, Fujiyama J, Nishimura G, Masuyama M.

Gan To Kagaku Ryoho. 2018 Feb;45(2):330-332. Japanese.

PMID:
29483437
19.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N.

Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.

PMID:
29432562
20.

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.

Ushijima T, Kawaguchi K, Matsumoto T, Takagi M, Kondoh T, Nishimura G, Iida A, Ikegawa S, Haga N, Kato G.

BMC Res Notes. 2018 Feb 7;11(1):106. doi: 10.1186/s13104-018-3227-7.

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