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Items: 1 to 20 of 638

1.

Defining the clinical phenotype of Saul-Wilson syndrome.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0737-1. [Epub ahead of print]

PMID:
31949312
2.

Normal early development in siblings with novel compound heterozygous variants in ASPM.

Moriwaki T, Yamazaki N, So T, Kosuga M, Miyazaki O, Narumi-Kishimoto Y, Kaname T, Nishimura G, Okuyama T, Fukuhara Y.

Hum Genome Var. 2020 Jan 6;6:56. doi: 10.1038/s41439-019-0088-0. eCollection 2019.

3.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
4.

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

Sato T, Kojima T, Samura O, Kawaguchi S, Nakamura A, Nakajima M, Tanuma-Takahashi A, Nakabayashi K, Hata K, Ikegawa S, Nishimura G, Okamoto A, Yamada T.

Am J Med Genet A. 2019 Dec 27. doi: 10.1002/ajmg.a.61469. [Epub ahead of print]

PMID:
31880411
5.

Real-world Treatment Outcomes of the EXTREME Regimen as First-line Therapy for Recurrent/Metastatic Squamous Cell Carcinoma of the Head and Neck: A Multi-center Retrospective Cohort Study in Japan.

Sano D, Fujisawa T, Tokuhisa M, Shimizu M, Sakagami T, Hatano T, Nishimura G, Ichikawa Y, Iwai H, Oridate N.

Anticancer Res. 2019 Dec;39(12):6819-6827. doi: 10.21873/anticanres.13898.

PMID:
31810948
6.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

Girisha KM, Bhavani GS, Shah H, Moirangthem A, Shukla A, Kim OH, Nishimura G, Mortier GR.

Am J Med Genet A. 2020 Feb;182(2):338-347. doi: 10.1002/ajmg.a.61414. Epub 2019 Nov 22.

PMID:
31755234
7.

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Ohashi I, Enomoto Y, Naruto T, Tsurusaki Y, Kuroda Y, Ishikawa H, Ohyama M, Aida N, Nishimura G, Kurosawa K.

Hum Genome Var. 2019 Aug 26;6:40. doi: 10.1038/s41439-019-0071-9. eCollection 2019.

8.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML.

Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.

PMID:
31633310
9.

Sphenoid sinus development in patients with acquired middle ear cholesteatoma.

Arai Y, Sano D, Takahashi M, Nishimura G, Sakamaki K, Sakuma N, Komatsu M, Oridate N.

Auris Nasus Larynx. 2019 Oct 17. pii: S0385-8146(19)30449-3. doi: 10.1016/j.anl.2019.09.008. [Epub ahead of print]

PMID:
31630851
10.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.

Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3.

PMID:
31600839
11.

A prospective clinical trial of the second-look procedure for transoral surgery in patients with T1 and T2 laryngeal, oropharyngeal, and hypopharyngeal cancer.

Nishimura G, Sano D, Arai Y, Hatano T, Takahashi H, Tanabe T, Wada T, Morishita D, Oridate N.

Cancer Med. 2019 Dec;8(17):7197-7206. doi: 10.1002/cam4.2588. Epub 2019 Oct 8.

12.

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Shimizu D, Sakamoto R, Yamoto K, Saitsu H, Fukami M, Nishimura G, Ogata T.

J Hum Genet. 2019 Oct;64(10):1041-1044. doi: 10.1038/s10038-019-0650-0. Epub 2019 Aug 6.

PMID:
31388108
13.

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

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T.

Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22.

PMID:
31332306
14.

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.

Aoyama KI, Kimura M, Yamazaki H, Uchibori M, Kojima R, Osawa Y, Hosomichi K, Ota Y, Tanaka M, Yamada S, Nishimura G.

BMC Med Genet. 2019 Jul 16;20(1):126. doi: 10.1186/s12881-019-0858-z.

15.

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S.

Pediatr Int. 2019 Aug;61(8):748-753. doi: 10.1111/ped.13927. Epub 2019 Aug 27.

16.

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L.

J Bone Miner Res. 2019 Oct;34(10):1873-1879. doi: 10.1002/jbmr.3805. Epub 2019 Aug 5.

PMID:
31163101
17.

Corrigendum tonode ratio as a prognostic factor for survival in patients with head and neck squamous cell carcinoma" [Auris Nasus Larynx (2018) Aug;45(4):846-853]. "Lymph

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

Auris Nasus Larynx. 2019 Oct;46(5):818-819. doi: 10.1016/j.anl.2019.05.004. Epub 2019 May 27. No abstract available.

PMID:
31147083
18.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

19.

Highly Active Ni- and Co-Based Bimetallic Catalysts for Hydrogen Production From Ammonia-Borane.

Furukawa S, Nishimura G, Takayama T, Komatsu T.

Front Chem. 2019 Mar 20;7:138. doi: 10.3389/fchem.2019.00138. eCollection 2019.

20.

Contrast improvement in indocyanine green fluorescence sensing in thick tissue using a time-gating method.

Nishimura G.

Biomed Opt Express. 2019 Feb 12;10(3):1234-1249. doi: 10.1364/BOE.10.001234. eCollection 2019 Mar 1.

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