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Results: 1-22 |
Results: 22
Genetics of craniofacial development and malformation
Authors: Wilkie, AOM Morriss-Kay, GM
Citation: Aom. Wilkie et Gm. Morriss-kay, Genetics of craniofacial development and malformation, NAT REV GEN, 2(6), 2001, pp. 458-468
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
Authors: Mavrogiannis, LA Antonopoulou, I Baxova, A Kutilek, S Kim, CA Sugayama, SM Salamanca, A Wall, SA Morriss-Kay, GM Wilkie, AOM
Citation: La. Mavrogiannis et al., Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects, NAT GENET, 27(1), 2001, pp. 17-18
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals
Authors: Elanko, N Sibbring, JS Metcalfe, KA Clayton-Smith, J Donnai, D Temple, IK Wall, SA Wilkie, AOM
Citation: N. Elanko et al., A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals, HUM MUTAT, 18(6), 2001, pp. 535-541
Burning down DEFECT11
Authors: Wuyts, W Van Hul, W Bartsch, O Wilkie, AOM Meinecke, P
Citation: W. Wuyts et al., Burning down DEFECT11, AM J MED G, 100(4), 2001, pp. 331-332
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda
Authors: Christie, PT Curley, A Nesbit, MA Chapman, C Genet, S Harper, PS Keeling, SL Wilkie, AOM Winter, RM Thakker, RV
Citation: Pt. Christie et al., Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda, J CLIN END, 86(7), 2001, pp. 3233-3236
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1
Authors: Robertson, SP Walsh, S Oldridge, M Gunn, T Becroft, D Wilkie, AOM
Citation: Sp. Robertson et al., Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1, AM J HU GEN, 69(1), 2001, pp. 223-227
Potential gene conversion and source genes for recently integrated Alu elements
Authors: Roy, AM Carroll, ML Nguyen, SV Salem, AH Oldridge, M Wilkie, AOM Batzer, MA Deininger, PL
Citation: Am. Roy et al., Potential gene conversion and source genes for recently integrated Alu elements, GENOME RES, 10(10), 2000, pp. 1485-1495
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Authors: Afzal, AR Rajab, A Fenske, CD Oldridge, M Elanko, N Ternes-Pereira, E Tuysuz, B Murday, VA Patton, MA Wilkie, AOM Jeffery, S
Citation: Ar. Afzal et al., Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, NAT GENET, 25(4), 2000, pp. 419-422
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
Authors: Wilkie, AOM Tang, ZQ Elanko, N Walsh, S Twigg, SRF Hurst, JA Wall, SA Chrzanowska, KH Maxson, RE
Citation: Aom. Wilkie et al., Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification, NAT GENET, 24(4), 2000, pp. 387-390
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Authors: Oldridge, M Fortuna, AM Maringa, M Propping, P Mansour, S Pollitt, C DeChiara, TM Kimble, RB Valenzuela, DM Yancopoulos, GD Wilkie, AOM
Citation: M. Oldridge et al., Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B, NAT GENET, 24(3), 2000, pp. 275-278
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Authors: Johnson, D Wall, SA Mann, S Wilkie, AOM
Citation: D. Johnson et al., A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?, EUR J HUM G, 8(8), 2000, pp. 571-577
Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis
Authors: Johnson, D Iseki, S Wilkie, AOM Morriss-Kay, GM
Citation: D. Johnson et al., Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis, MECH DEVEL, 91(1-2), 2000, pp. 341-345
Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2
Authors: Johnson, D Wilkie, AOM
Citation: D. Johnson et Aom. Wilkie, Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2, J CRAN GENE, 20(2), 2000, pp. 109-111
Newly recognised craniosynostosis syndrome that does not map to known disease loci
Authors: Blair, EM Walsh, S Oldridge, M Wall, SS Wilkie, AOM
Citation: Em. Blair et al., Newly recognised craniosynostosis syndrome that does not map to known disease loci, AM J MED G, 95(1), 2000, pp. 4-9
Epidemiology and genetics of craniosynostosis
Authors: Wilkie, AOM
Citation: Aom. Wilkie, Epidemiology and genetics of craniosynostosis, AM J MED G, 90(1), 2000, pp. 82-83
Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces
Authors: Lynch, SA Hall, K Precious, S Wilkie, AOM Hurst, JA
Citation: Sa. Lynch et al., Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces, J MED GENET, 37(6), 2000, pp. 466-470
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
Authors: Schwabe, GC Tinschert, S Buschow, C Meinecke, P Wolff, G Gillessen-Kaesbach, G Oldridge, M Wilkie, AOM Komec, R Mundlos, S
Citation: Gc. Schwabe et al., Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B, AM J HU GEN, 67(4), 2000, pp. 822-831
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Authors: Glaser, RL Jiang, W Boyadjiev, SA Tran, AK Zachary, AA Van Maldergem, L Johnson, M Walsh, S Oldridge, M Wall, SA Wilkie, AOM Jabs, EW
Citation: Rl. Glaser et al., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, AM J HU GEN, 66(3), 2000, pp. 768-777
Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault
Authors: Iseki, S Wilkie, AOM Morriss-Kay, GM
Citation: S. Iseki et al., Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault, DEVELOPMENT, 126(24), 1999, pp. 5611-5620
Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis
Authors: Twigg, SRF Wilkie, AOM
Citation: Srf. Twigg et Aom. Wilkie, Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis, HUM GENET, 105(4), 1999, pp. 320-326
De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
Authors: Oldridge, M Zackai, EH McDonald-McGinn, DM Iseki, S Morriss-Kay, GM Twigg, RF Johnson, D Wall, SA Jiang, W Theda, C Jabs, EW Wilkie, AOM
Citation: M. Oldridge et al., De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome, AM J HU GEN, 64(2), 1999, pp. 446-461
Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
Authors: Oldridge, M Temple, IK Santos, HG Gibbons, RJ Mustafa, Z Chapman, KE Loughlin, J Wilkie, AOM
Citation: M. Oldridge et al., Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity, AM J HU GEN, 64(2), 1999, pp. 578-585
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