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Results: 1-8 |
Results: 8
CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS
Authors: REARDON W WILKES D RUTLAND P PULLEYN LJ MALCOLM S DEAN JCS EVANS RD JONES BM HAYWARD R HALL CM NEVIN NC BARAITSER M WINTER RM
Citation: W. Reardon et al., CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS, Journal of Medical Genetics, 34(8), 1997, pp. 632-636
SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS
Authors: PULLEYN LJ REARDON W WILKES D RUTLAND P JONES BM HAYWARD R HALL CM BRUETON L CHUN N LAMMER E MALCOLM S WINTER RM
Citation: Lj. Pulleyn et al., SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS, European journal of human genetics, 4(5), 1996, pp. 283-291
A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS
Authors: WILKES D RUTLAND P PULLEYN LJ REARDON W MOSS C ELLIS JP WINTER RM MALCOLM S
Citation: D. Wilkes et al., A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS, Journal of Medical Genetics, 33(9), 1996, pp. 744-748
APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME
Authors: WILKIE AOM SLANEY SF OLDRIDGE M POOLE MD ASHWORTH GJ HOCKLEY AD HAYWARD RD DAVID DJ PULLEYN LJ RUTLAND P MALCOLM S WINTER RM REARDON W
Citation: Aom. Wilkie et al., APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME, Nature genetics, 9(2), 1995, pp. 165-172
IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES
Authors: RUTLAND P PULLEYN LJ REARDON W BARAITSER M HAYWARD R JONES B MALCOLM S WINTER RM OLDRIDGE M SLANEY SF POOLE MD WILKIE AOM
Citation: P. Rutland et al., IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES, Nature genetics, 9(2), 1995, pp. 173-176
MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME
Authors: OLDRIDGE M WILKIE AOM SLANEY SF POOLE MD PULLEYN LJ RUTLAND P HOCKLEY AD WAKE MJC GOLDIN JH WINTER RM REARDON W MALCOLM S
Citation: M. Oldridge et al., MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME, Human molecular genetics, 4(6), 1995, pp. 1077-1082
A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME
Authors: MUENKE M SCHELL U HEHR A ROBIN NH LOSKEN HW SCHINZEL A PULLEYN LJ RUTLAND P REARDON W MALCOLM S WINTER RM
Citation: M. Muenke et al., A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME, Nature genetics, 8(3), 1994, pp. 269-274
MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME
Authors: REARDON W WINTER RM RUTLAND P PULLEYN LJ JONES BM MALCOLM S
Citation: W. Reardon et al., MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME, Nature genetics, 8(1), 1994, pp. 98-103
Risultati: 1-8 |