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Items: 1 to 20 of 581

1.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.

Hum Genome Var. 2017 Oct 5;4:17040. doi: 10.1038/hgv.2017.40. eCollection 2017.

2.

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Takeda R, Takagi M, Shinohara H, Futagawa H, Narumi S, Hasegawa T, Nishimura G, Yoshihashi H.

Eur J Med Genet. 2017 Aug 12. pii: S1769-7212(17)30296-3. doi: 10.1016/j.ejmg.2017.08.002. [Epub ahead of print]

PMID:
28807865
3.

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.

Salian S, Shukla A, Nishimura G, Girisha KM.

J Pediatr Genet. 2017 Sep;6(3):177-180. doi: 10.1055/s-0037-1599201. Epub 2017 Mar 7.

PMID:
28794911
4.

The applicability of new TNM classification for humanpapilloma virus-related oropharyngeal cancer in the 8th edition of the AJCC/UICC TNM staging system in Japan: A single-centre study.

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

Auris Nasus Larynx. 2017 Jul 28. pii: S0385-8146(17)30305-X. doi: 10.1016/j.anl.2017.07.010. [Epub ahead of print]

PMID:
28760331
5.

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Shiohama T, Fujii K, Shimizu K, Ohashi H, Takatani T, Okamoto N, Nishimura G, Kato M, Shimojo N.

Congenit Anom (Kyoto). 2017 Jul 26. doi: 10.1111/cga.12240. [Epub ahead of print]

PMID:
28745802
6.

Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.

Handa A, Muroya K, Ishii T, Nishimura G.

Am J Med Genet A. 2017 Oct;173(10):2834-2837. doi: 10.1002/ajmg.a.38368. Epub 2017 Jul 25. No abstract available.

PMID:
28742279
7.

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

Utsumi T, Okada S, Izawa K, Honda Y, Nishimura G, Nishikomori R, Okano R, Kobayashi M.

Front Endocrinol (Lausanne). 2017 Jul 10;8:157. doi: 10.3389/fendo.2017.00157. eCollection 2017.

8.

Erratum to: Preplanned safety analysis of the JFMC37-0801 trial: a randomized phase III study of six months versus twelve months of capecitabine as adjuvant chemotherapy for stage III colon cancer.

Suto T, Ishiguro M, Hamada C, Kunieda K, Masuko H, Kondo K, Ishida H, Nishimura G, Sasaki K, Morita T, Hazama S, Maeda K, Mishima H, Ike H, Sadahiro S, Sugihara K, Okajima M, Saji S, Sakamoto J, Tomita N.

Int J Clin Oncol. 2017 Aug;22(4):805-806. doi: 10.1007/s10147-017-1146-6. No abstract available.

PMID:
28608229
9.

Efficacy and safety of postoperative bio-chemoradiotherapy using cetuximab and docetaxel for high-risk head and neck cancer patients in Japan.

Nishimura G, Shiono O, Sano D, Yabuki K, Arai Y, Chiba Y, Tanabe T, Oridate N.

Cancer Chemother Pharmacol. 2017 Jul;80(1):203-207. doi: 10.1007/s00280-017-3352-3. Epub 2017 Jun 8.

PMID:
28597041
10.

Familial unilateral carpal bone dysplasia in mother and daughter.

Fuchigami T, Fujita Y, Oyama M, Inamo Y, Takahashi S, Yamaguchi T, Miyazaki O, Nishimura G.

Clin Dysmorphol. 2017 Jul;26(3):167-169. doi: 10.1097/MCD.0000000000000166. No abstract available.

PMID:
28575890
11.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
12.

Ultra-Low-Dose Fetal CT With Model-Based Iterative Reconstruction: A Prospective Pilot Study.

Imai R, Miyazaki O, Horiuchi T, Asano K, Nishimura G, Sago H, Nosaka S.

AJR Am J Roentgenol. 2017 Jun;208(6):1365-1372. doi: 10.2214/AJR.16.17593. Epub 2017 May 2.

PMID:
28463542
13.

Multicenter phase II study of infusional 5-fluorouracil (5-FU), leucovorin, and oxaliplatin, plus biweekly cetuximab as first-line treatment in patients with metastatic colorectal cancer (CELINE trial).

Kotake M, Aoyama T, Munemoto Y, Doden K, Kataoka M, Kobayashi K, Nishimura G, Fujita H, Nakamura K, Takehara A, Tanaka C, Sakamoto J, Nagata N, Oba K, Kondo K.

Oncol Lett. 2017 Feb;13(2):747-753. doi: 10.3892/ol.2016.5505. Epub 2016 Dec 14.

14.

Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2016 for the treatment of colorectal cancer.

Watanabe T, Muro K, Ajioka Y, Hashiguchi Y, Ito Y, Saito Y, Hamaguchi T, Ishida H, Ishiguro M, Ishihara S, Kanemitsu Y, Kawano H, Kinugasa Y, Kokudo N, Murofushi K, Nakajima T, Oka S, Sakai Y, Tsuji A, Uehara K, Ueno H, Yamazaki K, Yoshida M, Yoshino T, Boku N, Fujimori T, Itabashi M, Koinuma N, Morita T, Nishimura G, Sakata Y, Shimada Y, Takahashi K, Tanaka S, Tsuruta O, Yamaguchi T, Yamaguchi N, Tanaka T, Kotake K, Sugihara K; Japanese Society for Cancer of the Colon and Rectum.

Int J Clin Oncol. 2017 Mar 27. doi: 10.1007/s10147-017-1101-6. [Epub ahead of print]

PMID:
28349281
15.

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-month-old Toddler with Brachytelephalangic Chondrodysplasia Punctata: A Case Report.

Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K.

Spine (Phila Pa 1976). 2017 Mar 23. doi: 10.1097/BRS.0000000000002170. [Epub ahead of print]

PMID:
28338574
16.

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.

J Hum Genet. 2017 Aug;62(8):797-801. doi: 10.1038/jhg.2017.38. Epub 2017 Mar 23.

17.

Follow-Up Study on Fetal CT Radiation Dose in Japan: Validating the Decrease in Radiation Dose.

Miyazaki O, Sawai H, Yamada T, Murotsuki J, Nishimura G.

AJR Am J Roentgenol. 2017 Apr;208(4):862-867. doi: 10.2214/AJR.16.17316.

PMID:
28328259
18.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I.

Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.

PMID:
28328135
19.

Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.

Takahashi Y, Sawai H, Murotsuki J, Satoh S, Yamada T, Hayakawa H, Kouduma Y, Sase M, Watanabe A, Miyazaki O, Nishimura G.

Prenat Diagn. 2017 May;37(5):491-496. doi: 10.1002/pd.5040. Epub 2017 Apr 17.

PMID:
28326564
20.

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita.

Kusano C, Takagi M, Hori N, Murotsuki J, Nishimura G, Hasegawa T.

Hum Genome Var. 2017 Mar 2;4:17003. doi: 10.1038/hgv.2017.3. eCollection 2017.

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