292 related articles for article (PubMed ID: 9600744)
1. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
Graham JM; Braddock SR; Mortier GR; Lachman R; Van Dop C; Jabs EW
Am J Med Genet; 1998 May; 77(4):322-9. PubMed ID: 9600744
[TBL] [Abstract][Full Text] [Related]
2. 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; 104(2):112-9. PubMed ID: 11746040
[TBL] [Abstract][Full Text] [Related]
3. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke M; Gripp KW; McDonald-McGinn DM; Gaudenz K; Whitaker LA; Bartlett SP; Markowitz RI; Robin NH; Nwokoro N; Mulvihill JJ; Losken HW; Mulliken JB; Guttmacher AE; Wilroy RS; Clarke LA; Hollway G; Adès LC; Haan EA; Mulley JC; Cohen MM; Bellus GA; Francomano CA; Moloney DM; Wall SA; Wilkie AO
Am J Hum Genet; 1997 Mar; 60(3):555-64. PubMed ID: 9042914
[TBL] [Abstract][Full Text] [Related]
4. [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
Reinhart E; Eulert S; Bill J; Würzler K; Phan The L; Reuther J
Mund Kiefer Gesichtschir; 2003 May; 7(3):132-7. PubMed ID: 12764678
[TBL] [Abstract][Full Text] [Related]
5. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Gripp KW; Stolle CA; McDonald-McGinn DM; Markowitz RI; Bartlett SP; Katowitz JA; Muenke M; Zackai EH
Am J Med Genet; 1998 Jul; 78(4):356-60. PubMed ID: 9714439
[TBL] [Abstract][Full Text] [Related]
6. Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
Agochukwu NB; Solomon BD; Benson LJ; Muenke M
Am J Med Genet A; 2013 Mar; 161A(3):453-60. PubMed ID: 23378035
[TBL] [Abstract][Full Text] [Related]
7. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Reardon W; Wilkes D; Rutland P; Pulleyn LJ; Malcolm S; Dean JC; Evans RD; Jones BM; Hayward R; Hall CM; Nevin NC; Baraister M; Winter RM
J Med Genet; 1997 Aug; 34(8):632-6. PubMed ID: 9279753
[TBL] [Abstract][Full Text] [Related]
8. [A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene].
Mori F; Kuwajima K; Yamanaka K; Kondou I
No To Hattatsu; 2001 Jan; 33(1):53-7. PubMed ID: 11197897
[TBL] [Abstract][Full Text] [Related]
9. 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; 349(9058):1059-62. PubMed ID: 9107244
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 15915095
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 9950359
[TBL] [Abstract][Full Text] [Related]
12. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
Moko SB; Blandin de Chalain TM
J Craniomaxillofac Surg; 2001 Feb; 29(1):22-4. PubMed ID: 11467490
[TBL] [Abstract][Full Text] [Related]
13. Genetic analysis of patients with the Saethre-Chotzen phenotype.
Chun K; Teebi AS; Jung JH; Kennedy S; Laframboise R; Meschino WS; Nakabayashi K; Scherer SW; Ray PN; Teshima I
Am J Med Genet; 2002 Jun; 110(2):136-43. PubMed ID: 12116251
[TBL] [Abstract][Full Text] [Related]
14. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
Schell U; Hehr A; Feldman GJ; Robin NH; Zackai EH; de Die-Smulders C; Viskochil DH; Stewart JM; Wolff G; Ohashi H
Hum Mol Genet; 1995 Mar; 4(3):323-8. PubMed ID: 7795583
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 9279764
[TBL] [Abstract][Full Text] [Related]
16. Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.
Heike C; Seto M; Hing A; Palidin A; Hu FZ; Preston RA; Ehrlich GD; Cunningham M
Am J Med Genet; 2001 May; 100(4):315-24. PubMed ID: 11343323
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 21403557
[TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Oldridge M; Lunt PW; Zackai EH; McDonald-McGinn DM; Muenke M; Moloney DM; Twigg SR; Heath JK; Howard TD; Hoganson G; Gagnon DM; Jabs EW; Wilkie AO
Hum Mol Genet; 1997 Jan; 6(1):137-43. PubMed ID: 9002682
[TBL] [Abstract][Full Text] [Related]
19. Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
Hughes J; Nevin NC; Morrison PJ
Ulster Med J; 2001 May; 70(1):47-50. PubMed ID: 11428324
[No Abstract] [Full Text] [Related]
20. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Rannan-Eliya SV; Taylor IB; De Heer IM; Van Den Ouweland AM; Wall SA; Wilkie AO
Hum Genet; 2004 Aug; 115(3):200-7. PubMed ID: 15241680
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
