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Items: 1 to 20 of 94

1.

Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.

Singh A, Goyal M, Kumar S, Kress W, Kapoor S.

Indian J Pediatr. 2014 Nov;81(11):1230-2. doi: 10.1007/s12098-014-1424-5. Epub 2014 Apr 6.

PMID:
24705944
2.

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M.

Am J Med Genet A. 2007 Dec 15;143A(24):3204-15.

PMID:
18000976
3.

Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations.

Ko JM, Jeong SY, Yang JA, Park DH, Yoon SH.

Plast Reconstr Surg. 2012 May;129(5):814e-21e. doi: 10.1097/PRS.0b013e31824a2dda.

PMID:
22544111
4.

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.

Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z.

J Matern Fetal Neonatal Med. 2014 Sep;27(14):1502-6. doi: 10.3109/14767058.2013.860520. Epub 2013 Nov 29. Review.

PMID:
24168007
5.

Phenotype profile of a genetic mouse model for Muenke syndrome.

Nah HD, Koyama E, Agochukwu NB, Bartlett SP, Muenke M.

Childs Nerv Syst. 2012 Sep;28(9):1483-93. doi: 10.1007/s00381-012-1778-9. Epub 2012 Aug 8.

6.

Muenke syndrome: An international multicenter natural history study.

Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M.

Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6.

PMID:
26740388
7.

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Agochukwu NB, Solomon BD, Gropman AL, Muenke M.

Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Review.

8.

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D.

J Med Genet. 1999 Jan;36(1):9-13.

9.

Additional phenotypic features of Muenke syndrome in 2 Dutch families.

de Jong T, Mathijssen IM, Hoogeboom AJ.

J Craniofac Surg. 2011 Mar;22(2):571-5. doi: 10.1097/SCS.0b013e318207b761.

PMID:
21403557
10.

Sudden infant death in a patient with FGFR3 P250R mutation.

Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D.

Am J Med Genet A. 2006 Dec 15;140(24):2794-6.

PMID:
17103449
11.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.

J Med Genet. 1997 Aug;34(8):683-4.

12.

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE.

Am J Med Genet A. 2011 Dec;155A(12):3050-3. doi: 10.1002/ajmg.a.34199. Epub 2011 Oct 28.

PMID:
22038757
13.

Significant phenotypic variability of Muenke syndrome in identical twins.

Escobar LF, Hiett AK, Marnocha A.

Am J Med Genet A. 2009 Jun;149A(6):1273-6. doi: 10.1002/ajmg.a.32841.

PMID:
19449410
14.

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.

Am J Med Genet. 1998 May 26;77(4):322-9.

PMID:
9600744
15.

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J.

Am J Med Genet. 2001 Nov 22;104(2):112-9.

PMID:
11746040
16.

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.

Thomas GP, Wilkie AO, Richards PG, Wall SA.

J Craniofac Surg. 2005 May;16(3):347-52; discussion 353-4.

PMID:
15915095
17.

A Korean family with the Muenke syndrome.

Yu JE, Park DH, Yoon SH.

J Korean Med Sci. 2010 Jul;25(7):1086-9. doi: 10.3346/jkms.2010.25.7.1086. Epub 2010 Jun 17.

18.

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO.

Dev Dyn. 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790.

19.

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO.

Lancet. 1997 Apr 12;349(9058):1059-62.

PMID:
9107244
20.

Molecular diagnosis of bilateral coronal synostosis.

Mulliken JB, Steinberger D, Kunze S, Müller U.

Plast Reconstr Surg. 1999 Nov;104(6):1603-15. Review.

PMID:
10541159

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