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Items: 13

1.

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2015 Apr;167A(4):852-7. doi: 10.1002/ajmg.a.36985. Epub 2015 Feb 23.

PMID:
25706251
2.

Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.

Agochukwu NB, Solomon BD, Muenke M.

Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28. Review.

PMID:
25441602
3.

Tracheal cartilaginous sleeve association with syndromic midface hypoplasia.

Stater BJ, Oomen KP, Modi VK.

JAMA Otolaryngol Head Neck Surg. 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. Review.

PMID:
25375853
4.

Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

Wilkinson CC, Manchester DK, Keating RF, Ketch LL, Winston KR.

Childs Nerv Syst. 2012 Aug;28(8):1221-6. doi: 10.1007/s00381-012-1813-x. Epub 2012 Jun 4. Review.

PMID:
22661218
5.

p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice.

Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW.

J Clin Invest. 2012 Jun;122(6):2153-64. doi: 10.1172/JCI62644. Epub 2012 May 15.

6.

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

Barge-Schaapveld DQ, Brooks AS, Lequin MH, van Spaendonk R, Vermeulen RJ, Cobben JM.

Pediatr Neurol. 2011 Apr;44(4):303-7. doi: 10.1016/j.pediatrneurol.2010.11.015.

PMID:
21397175
7.

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.

Tao YC, Slavotinek AM, Vargervik K, Oberoi S.

Cleft Palate Craniofac J. 2010 May;47(3):253-8. doi: 10.5555/08-282.1.

PMID:
19860525
9.

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.

Cohen MM Jr.

J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. doi: 10.1097/SCS.0b013e318193d48d. Erratum in: J Craniofac Surg. 2009 Sep;20(5):1629-30.

PMID:
19293680
10.

Lateral orbital expansion and gradual fronto-orbital advancement: an option to treat severe syndromic craniosynostosis.

Nishimoto S, Oyama T, Nagashima T, Osaki Y, Yoshimura Y, Fukuda K, Kawai K, Tsumano T, Kakibuchi M.

J Craniofac Surg. 2008 Nov;19(6):1622-7. doi: 10.1097/SCS.0b013e31818b494e.

PMID:
19098565
11.

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM.

Am J Med Genet A. 2008 Mar 1;146A(5):658-60. doi: 10.1002/ajmg.a.32176.

PMID:
18247426
12.

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, Davies H, Mohammadi M, Futreal PA, Stratton MR, Trent JM, Goodfellow PJ.

Oncogene. 2007 Nov 1;26(50):7158-62. Epub 2007 May 21.

13.

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH.

J Korean Med Sci. 2007 Apr;22(2):352-6.

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