A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O.M., Mundlos, S.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
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Published in Clinical genetics (01.09.2016)
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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
Furniss, D, Kan, S-h, Taylor, I B, Johnson, D, Critchley, P S, Giele, H P, Wilkie, A O M
Published in Journal of medical genetics (01.11.2009)
Published in Journal of medical genetics (01.11.2009)
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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
SLANEY, S. F, OLDRIDGE, M, HURST, J. A, MORRISS-KAY, G. M, HALL, C. M, POOLE, M. D, WILKIE, A. O. M
Published in American journal of human genetics (01.05.1996)
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Published in American journal of human genetics (01.05.1996)
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A Review of the Molecular Genetics of the Human α-Globin Gene Cluster
Higgs, D.R., Vickers, M.A., Wilkie, A.O.M., Pretorius, I.M., Jarman, A.P., Weatherall, D.J.
Published in Blood (01.04.1989)
Published in Blood (01.04.1989)
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J
Published in European journal of human genetics : EJHG (01.08.2014)
Published in European journal of human genetics : EJHG (01.08.2014)
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Cellular correlates of selfish spermatogonial selection
Maher, G. J., Rajpert‐De Meyts, E., Goriely, A., Wilkie, A. O. M.
Published in Andrology (Oxford) (01.05.2016)
Published in Andrology (Oxford) (01.05.2016)
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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
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
Published in Nature genetics (01.08.2000)
Published in Nature genetics (01.08.2000)
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
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
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22
Feldman, George J., Ward, Deeann E., Lajeunie-Renier, Elisabeth, Saavedra, Dolores, Robin, Nathaniel H., Proud, Virginia, Robb, Laura J., Der Kaloustian, Vazken, Carey, John C., Cohen, M. Michael, Cormier, Valerie, Munnich, Arnold, Zackai, Elaine H., Wilkie, Andrew O. M., Arlen Price, R., Muenke, Maximilian
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome
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.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
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
Published in Nature genetics (01.03.2000)
Published in Nature genetics (01.03.2000)
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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
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
Published in Nature genetics (01.02.1995)
Published in Nature genetics (01.02.1995)
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