Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome von BOWMAN, Michael, OLDRIDGE, Michael, ARCHER, Caroline, O'ROURKE, Anthony, MCPARLAND, Joanna, BREKELMANS, Roel, SELLER, Anneke, LESTER, Tracy

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 von Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M

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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B von Mansour, Sahar, Pollitt, Christine, Kimble, Robert B, Maringa, Monika, Oldridge, Michael, M Fortuna, Ana, Valenzuela, David M, DeChiara, Thomas M, Wilkie, Andrew O.M, Propping, Peter, Yancopoulos, George D

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Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome von 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

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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes von Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M

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Potential gene conversion and source genes for recently integrated Alu elements von Roy, A M, Carroll, M L, Nguyen, S V, Salem, A H, Oldridge, M, Wilkie, A O, Batzer, M A, Deininger, P L

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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome von COSSINS, Judith, WEI WEI LIU, BELAYA, Katsiaryna, MAXWELL, Susan, OLDRIDGE, Michael, LESTER, Tracy, ROBB, Stephanie, BEESON, David

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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication von Al-Yassin, Amina, Calder, Alistair D, Harrison, Mike, Lester, Tracy, Lord, Helen, Oldridge, Michael, Watkins, Sophie, Keen, Richard, Wakeling, Emma L

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Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B von Schwabe, Georg C., Tinschert, Sigrid, Buschow, Christian, Meinecke, Peter, Wolff, Gerhard, Gillessen-Kaesbach, Gabriele, Oldridge, Michael, Wilkie, Andrew O.M., Kömec, Reyhan, Mundlos, Stefan

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Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E von Johnson, David, Kan, Shih-hsin, Oldridge, Michael, Trembath, Richard C., Roche, Philippe, Esnouf, Robert M., Giele, Henk, Andrew Wilkie, O.M.

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome von Wilkie, Andrew O.M, Slaney, Sarah F, Oldridge, Michael, Poole, Michael D, Ashworth, Geraldine J, Hockley, Anthony D, Hayward, Richard D, David, David J, Pulleyn, Louise J, Rutland, Paul, Malcolm, Susan, Winter, Robin M, Reardon, William

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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome von 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.

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Exclusive paternal origin of new mutations in Apert syndrome von Wilkie, Andrew O.M, Moloney, Dominique M, Wall, Steven A, Stenman, Göran, Oldridge, Michael, Sahlin, Pelle, Slaney, Sarah R

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A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1 von 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.

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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome von SLANEY, S. F, OLDRIDGE, M, HURST, J. A, MORRISS-KAY, G. M, HALL, C. M, POOLE, M. D, WILKIE, A. O. M

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Genital anomalies in a patient with Treacher Collins syndrome von Writzl, Karin, Jeruc, Jera, Oldridge, Michael, Peterlin, Borut, Hennekam, Raoul C.M.

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Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2 von Oldridge, Michael, Lunt, Peter W., Zackai, Elaine H., McDonald-McGinn, Donna M., Muenke, Maximilian, Moloney, Dominique M., Twigg, Stephen R. F., Heath, John K., Howard, Timothy D., Hoganson, George, Gagnon, Deborah M., Jabs, Ethylin Wang, Wilkie, Andrew O. M.

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Linkage of Otopalatodigital Syndrome Type 2 (OPD2) to Distal Xq28: Evidence for Allelism with OPD1 von Robertson, Stephen P., Walsh, Sinead, Oldridge, Michael, Gunn, Tania, Becroft, David, Wilkie, Andrew O.M.

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Conserved Use of a Non-Canonical 5′ Splice Site (/GA) in Alternative Splicing by Fibroblast Growth Factor Receptors 1, 2 and 3 von Twigg, Stephen R. F., Burns, Helen D., Oldridge, Michael, Heath, John K., Wilkie, Andrew O. M.

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Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity von Oldridge, Michael, Temple, I. Karen, Santos, Heloisa G., Gibbons, Richard J., Mustafa, Zehra, Chapman, Kay E., Loughlin, John, Wilkie, Andrew O.M.

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