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Results: 1-8 |
Results: 8
A COMPREHENSIVE SCREEN FOR TWIST MUTATIONS IN PATIENTS WITH CRANIOSYNOSTOSIS IDENTIFIES A NEW MICRODELETION SYNDROME OF CHROMOSOME BAND 7P21.1
Authors: JOHNSON D HORSLEY SW MOLONEY DM OLDRIDGE M TWIGG SRF WALSH S BARROW M NJOLSTAD PR KUNZ J ASHWORTH GJ WALL SA KEARNEY L WILKIE AOM
Citation: D. Johnson et al., A COMPREHENSIVE SCREEN FOR TWIST MUTATIONS IN PATIENTS WITH CRANIOSYNOSTOSIS IDENTIFIES A NEW MICRODELETION SYNDROME OF CHROMOSOME BAND 7P21.1, American journal of human genetics, 63(5), 1998, pp. 1282-1293
PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS
Authors: MOLONEY DM WALL SA ASHWORTH GJ OLDRIDGE M GLASS IA FRANCOMANO CA MUENKE M WILKIE AOM
Citation: Dm. Moloney et al., PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS, Lancet, 349(9058), 1997, pp. 1059-1062
A NEW RECESSIVE CRANIOSYNOSTOSIS SYNDROME THAT DOES NOT MAP TO KNOWN CRANIOSYNOSTOSIS LOCI
Authors: BLAIR E OLDRIDGE M WALL SA WILKIE AOM
Citation: E. Blair et al., A NEW RECESSIVE CRANIOSYNOSTOSIS SYNDROME THAT DOES NOT MAP TO KNOWN CRANIOSYNOSTOSIS LOCI, Journal of Medical Genetics, 34, 1997, pp. 1007-1007
A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME
Authors: MUENKE M GRIPP KW MCDONALDMCGINN 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 ADES LC HAAN EA MULLEY JC COHEN MM BELLUS GA FRANCOMANO CA MOLONEY DM WALL SA WILKIE AOM ZACKAI EH
Citation: M. Muenke et al., A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME, American journal of human genetics, 60(3), 1997, pp. 555-564
CRANIOSYNOSTOSIS - NOVEL INSIGHTS INTO PATHOGENESIS AND TREATMENT
Authors: WILKIE AOM WALL SA
Citation: Aom. Wilkie et Sa. Wall, CRANIOSYNOSTOSIS - NOVEL INSIGHTS INTO PATHOGENESIS AND TREATMENT, Current opinion in neurology, 9(2), 1996, pp. 146-152
EXCLUSIVE PATERNAL ORIGIN OF NEW MUTATIONS IN APERT SYNDROME
Authors: MOLONEY DM SLANEY SF OLDRIDGE M WALL SA SAHLIN P STENMAN G WILKIE AOM
Citation: Dm. Moloney et al., EXCLUSIVE PATERNAL ORIGIN OF NEW MUTATIONS IN APERT SYNDROME, Nature genetics, 13(1), 1996, pp. 48-53
FRONTO-ORBITAL REOPERATION IN CRANIOSYNOSTOSIS
Authors: WALL SA GOLDIN JH HOCKLEY AD WAKE MJC POOLE MD BRIGGS M
Citation: Sa. Wall et al., FRONTO-ORBITAL REOPERATION IN CRANIOSYNOSTOSIS, British Journal of Plastic Surgery, 47(3), 1994, pp. 180-184
BOTULINUM-A CHEMODENERVATION - A NEW MODALITY IN CEREBRAL-PALSIED HANDS
Authors: WALL SA CHAIT LA TEMLETT JA PERKINS B HILLEN G BECKER P
Citation: Sa. Wall et al., BOTULINUM-A CHEMODENERVATION - A NEW MODALITY IN CEREBRAL-PALSIED HANDS, British Journal of Plastic Surgery, 46(8), 1993, pp. 703-706
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