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Items: 1 to 50 of 627

1.

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 Oct 21. doi: 10.1002/ajmg.a.61366. [Epub ahead of print]

PMID:
31633310
2.

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
3.

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, Grondona FL, Fernandez Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.

Clin Genet. 2019 Oct 10. doi: 10.1111/cge.13651. [Epub ahead of print]

PMID:
31600839
4.

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 Oct 8. doi: 10.1002/cam4.2588. [Epub ahead of print]

5.

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
6.

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 Jul 22. doi: 10.1038/s41431-019-0473-7. [Epub ahead of print]

PMID:
31332306
7.

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.

8.

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.

PMID:
31247124
9.

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 Jun 4. doi: 10.1002/jbmr.3805. [Epub ahead of print]

PMID:
31163101
10.

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
11.

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.

PMID:
30982609
12.

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.

13.

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.

14.

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K.

Clin Genet. 2019 Jun;95(6):713-717. doi: 10.1111/cge.13530. Epub 2019 Apr 11.

PMID:
30847897
15.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T.

Nat Med. 2019 Apr;25(4):583-590. doi: 10.1038/s41591-019-0353-2. Epub 2019 Feb 25.

16.

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S.

J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22.

PMID:
30796325
17.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E.

JCI Insight. 2019 Feb 7;4(3). pii: 124701. doi: 10.1172/jci.insight.124701. [Epub ahead of print]

18.

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Gucev Z, Tasic V, Bogevska I, Laban N, Saveski A, Polenakovic M, Plaseska-Karanfilska D, Komlosi K, Winter J, Schweiger S, Nishimura G, Spranger J, Bartsch O.

Eur J Med Genet. 2019 Jan 21. pii: S1769-7212(18)30561-5. doi: 10.1016/j.ejmg.2019.01.003. [Epub ahead of print]

PMID:
30677517
19.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.

Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.

Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.

PMID:
30488656
20.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

21.

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. 2019 Jul-Sep;79(3):395-403. doi: 10.1590/1519-6984.178458. Epub 2018 Sep 13.

22.

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 Dec;63(12):1277-1281. doi: 10.1038/s10038-018-0513-0. Epub 2018 Sep 18.

PMID:
30228365
23.

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.

24.

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. 2019 Jan;28(1):26-29. doi: 10.1097/MCD.0000000000000241. No abstract available.

25.

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.

26.

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.

27.

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
28.

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
29.

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 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27.

PMID:
29987841
30.

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.

31.

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 Sep;63(9):1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8.

PMID:
29884795
32.

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.

33.

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. 2019 Jan;62(1):21-26. doi: 10.1016/j.ejmg.2018.04.013. Epub 2018 Apr 25.

PMID:
29704686
34.

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
35.

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
36.

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
37.

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 Nov;58(6):194-197. doi: 10.1111/cga.12279. Epub 2018 Apr 2. Review.

PMID:
29542186
38.

[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
39.

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
40.

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.

41.

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A.

Am J Med Genet A. 2018 Mar;176(3):739-742. doi: 10.1002/ajmg.a.38623. Epub 2018 Jan 31.

PMID:
29383834
42.

Myhre syndrome: Age-dependent progressive phenotype.

Nomura R, Miyai K, Nishimura G, Kashimada K, Morio T.

Pediatr Int. 2017 Nov;59(11):1205-1206. doi: 10.1111/ped.13413. No abstract available.

PMID:
29359479
43.

Novel Application of Cultured Epithelial Autografts (CEA) with Expanded Mesh Skin Grafting Over an Artificial Dermis or Dermal Wound Bed Preparation.

Akita S, Hayashida K, Yoshimoto H, Fujioka M, Senju C, Morooka S, Nishimura G, Mukae N, Kobayashi K, Anraku K, Murakami R, Hirano A, Oishi M, Ikenoya S, Amano N, Nakagawa H; Nagasaki University plastic surgeons group.

Int J Mol Sci. 2017 Dec 25;19(1). pii: E57. doi: 10.3390/ijms19010057.

44.

Cover Image, Volume 176A, Number 1, January 2018.

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Ichihashi Y, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M.

Am J Med Genet A. 2018 Jan;176(1):i. doi: 10.1002/ajmg.a.38585.

PMID:
29232060
45.

The Second-Look Procedure for Transoral Videolaryngoscopic Surgery for T1 and T2 Laryngeal, Oropharyngeal, and Hypopharyngeal Cancer Patients: Protocol for a Nonrandomized Clinical Trial.

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

JMIR Res Protoc. 2017 Dec 5;6(12):e235. doi: 10.2196/resprot.8907.

46.

Lymph node ratio as a prognostic factor for survival in patients with head and neck squamous cell carcinoma.

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

Auris Nasus Larynx. 2018 Aug;45(4):846-853. doi: 10.1016/j.anl.2017.11.015. Epub 2017 Dec 2. Erratum in: Auris Nasus Larynx. 2019 Oct;46(5):818-819.

PMID:
29203318
47.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E.

J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4.

48.

Discordant fetal phenotype of hypophosphatasia in two siblings.

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Ichihashi Y, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M.

Am J Med Genet A. 2018 Jan;176(1):171-174. doi: 10.1002/ajmg.a.38531. Epub 2017 Nov 21.

PMID:
29160033
49.

Cochlear volume as a predictive factor for residual-hearing preservation after conventional cochlear implantation.

Takahashi M, Arai Y, Sakuma N, Yabuki K, Sano D, Nishimura G, Oridate N, Usami SI.

Acta Otolaryngol. 2018 Apr;138(4):345-350. doi: 10.1080/00016489.2017.1393840. Epub 2017 Nov 17.

PMID:
29148288
50.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

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