Search Results - "Wall, SA"

Familial external angular dermoid: evidence for a genetic link? by McIntyre, J D, Rannan-Eliya, S V, Wall, S A

“…Congenital craniofacial dermoid cysts are hamartomas of ectodermal and mesodermal origin, made up of keratinizing epithelium lining a cavity containing dermal…”
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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity by Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.

“…Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly,…”
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Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome by Stephen R. F. Twigg, Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Andrew O. M. Wilkie, Weatherall, David

“…Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous…”
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Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis by Merrill, Amy E., Bochukova, Elena G., Brugger, Sean M., Ishii, Mamoru, Pilz, Daniela T., Wall, Steven A., Lyons, Karen M., Wilkie, Andrew O.M., Maxson, Robert E.

“…Boundaries between cellular compartments often serve as signaling interfaces during embryogenesis. The coronal suture is a major growth center of the skull…”
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Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis by Kan, Shih-hsin, Elanko, Navaratnam, Johnson, David, Cornejo-Roldan, Laura, Cook, Jackie, Reich, Elsa W., Tomkins, Susan, Verloes, Alain, Twigg, Stephen R.F., Rannan-Eliya, Sahan, McDonald-McGinn, Donna M., Zackai, Elaine H., Wall, Steven A., Muenke, Maximilian, Wilkie, Andrew O.M.

“…It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor–receptor family of signal-transduction…”
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Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Spermatogonia by Goriely, Anne, Gilean A. T. Mc Vean, Ans M. M. van Pelt, O'Rourke, Anthony W., Wall, Steven A., de Rooij, Dirk G., Andrew O. M. Wilkie, Crow, James F.

“…Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human…”
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification by Wilkie, Andrew O.M, Tang, Zequn, Elanko, Navaratnam, Walsh, Sinead, Twigg, Stephen R.F, Hurst, Jane A, Wall, Steven A, Chrzanowska, Krystyna H, Maxson, Robert E

“…The genetic analysis of congenital skull malformations provides insight into normal mechanisms of calvarial osteogenesis. Enlarged parietal foramina (PFM) are…”
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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome by Oldridge, Michael, Zackai, Elaine H., McDonald-McGinn, Donna M., Iseki, Sachiko, Morriss-Kay, Gillian M., Twigg, Stephen R.F., Johnson, David, Wall, Steven A., Jiang, Wen, Theda, Christiane, Jabs, Ethylin Wang, Wilkie, Andrew O.M.

“…Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of fibroblast growth-factor receptor 2 (FGFR2), is characterized by…”
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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome by MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J

“…The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic…”
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Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome by Glaser, Rivka L., Jiang, Wen, Boyadjiev, Simeon A., Tran, Alissa K., Zachary, Andrea A., Van Maldergem, Lionel, Johnson, David, Walsh, Sinead, Oldridge, Michael, Wall, Steven A., Wilkie, Andrew O.M., Jabs, Ethylin Wang

“…Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor…”
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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects by Wilkie, Andrew O.M, Wall, Steven A, Sugayama, Sofia M, Salamanca, Alberto, Kutílek, Stepán, Mavrogiannis, Lampros A, Baxová, Alica, Morriss-Kay, Gillian M, Antonopoulou, Ileana, Kim, Chong A

“…Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in…”
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Exclusive paternal origin of new mutations in Apert syndrome by Wilkie, Andrew O.M, Moloney, Dominique M, Wall, Steven A, Stenman, Göran, Oldridge, Michael, Sahlin, Pelle, Slaney, Sarah R

“…Apert syndrome results from one or other of two specific nucleotide substitutions, both C-->G transversions, in the fibroblast growth factor receptor 2 (FGFR2)…”
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A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1 by Johnson, David, Horsley, Sharon W., Moloney, Dominique M., Oldridge, Michael, Twigg, Stephen R.F., Walsh, Sinead, Barrow, Margaret, Njølstad, Pål R., Kunz, Jürgen, Ashworth, Geraldine J., Wall, Steven A., Kearney, Lyndal, Wilkie, Andrew O.M.

“…Mutations in the coding region of the TWIST gene (encoding a basic helix-loop-helix transcription factor) have been identified in some cases of Saethre-Chotzen…”
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Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis by RANNAN-ELIYA, Sahan V, TAYLOR, Indira B, DE HEER, I. Marieke, VAN DEN OUWELAND, Ans M. W, WALL, Steven A, WILKIE, Andrew O. M

“…Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G,…”
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FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis by Thomas, Gregory P L, Wilkie, Andrew O M, Richards, Peter G, Wall, Steven A

“…Many patients with a clinical diagnosis of "nonsyndromic" coronal craniosynostosis have been found to be heterozygous for the fibroblast growth factor receptor…”
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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly by Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C, Wall, SA, Jabs, EW, Boyadjiev, SA, Wilkie, AOM, Passos-Bueno, MR

“…Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the…”
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Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link by Hansen, Ruth MS, Goriely, Anne, Wall, Steven A, Roberts, Ian SD, Wilkie, Andrew OM

“…Activating germline mutations in the fibroblast growth factor receptor (FGFR) gene family have been identified in several dominantly inherited skeletal…”
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A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? by Johnson, D, Wall, S A, Mann, S, Wilkie, A O

“…Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1, -2 and -3) and TWIST genes have been identified in several syndromic forms of…”
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A high bandwidth interface for haptic human computer interaction by Wall, Steven A, Harwin, William

“…Current force feedback, haptic interface devices are generally limited to the display of low frequency, high amplitude spatial data. A typical device consists…”
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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis by Moloney, D M, Wall, S A, Ashworth, G J, Oldridge, M, Glass, I A, Francomano, C A, Muenke, M, Wilkie, A O

“…The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis…”
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