GTF2IRD1 in Craniofacial Development of Humans and Mice von Tassabehji, May, Hammond, Peter, Karmiloff-Smith, Annette, Thompson, Pamela, Thorgeirsson, Snorri S, Durkin, Marian E, Popescu, Nicholas C, Hutton, Timothy, Metcalfe, Kay, Rucka, Agnes, Stewart, Helen, Read, Andrew P, Maconochie, Mark, Donnai, Dian

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Waardenburg syndrome von Read, A P, Newton, V E

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SLUG (SNAI2) deletions in patients with Waardenburg disease von Sánchez-Martín, Manuel, Rodríguez-García, Arancha, Pérez-Losada, Jesús, Sagrera, Ana, Read, Andrew P., Sánchez-García, Isidro

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene von Tassabehji, M, Newton, V E, Read, A P

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis von James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease von Pingault, Véronique, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Goerich, Derk E, Read, Andrew P, Wegner, Michael, Herbarth, Beate, Goossens, Michel, Kuhlbrodt, Kirsten, Matthijs, Gert, Ceccherini, Isabella, Smith, Jill Clayton, Bondurand, Nadège, Amiel, Jeanne, Romeo, Giovanni, Lyonnet, Stanislas, Préhu, Marie-Odette, Legius, Eric

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Mutations in PAX1 may be associated with Klippel-Feil syndrome von MCGAUGHRAN, J. M, OATES, A, DONNAI, D, READ, A. P, TASSABEHJI, M

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Germline mutation of ARF in a melanoma kindred von Hewitt, Chelsee, Lee Wu, Chu, Evans, Gareth, Howell, A., Elles, Robert G., Jordan, Richard, Sloan, Philip, Read, Andrew P., Thakker, Nalin

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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes von Tassabehji, Mayada, Metcalfe, Kay, Karmiloff-Smith, Annette, Carette, Martin J., Grant, Julia, Dennis, Nick, Reardon, W., Splitt, Miranda, Read, Andrew P., Donnai, Dian

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A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets von Poustka, A, Davies, K.E, Lorenz, B, Korn, B, Drezner, M.K, O'Riordan, J.L.H, Pannetier, S, Rowe, P.S.N, Summerfield, T, Nesbitt, T, Meindl, A, Lehrach, H, Strom, T.M, Popowska, E, Mountford, R, Cagnoli, B, Mohnike, K.L, Hanauer, A, Reinhardt, R, Read, A.P, Econs, M.J, Murken, J, de Jong, P, Goulding, J.N, Hennig, S, Meitinger, T, Oudet, C, Francis, F, Pronicka, E

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Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome von Karmiloff-Smith, A, Grant, J, Ewing, S, Carette, M J, Metcalfe, K, Donnai, D, Read, A P, Tassabehji, M

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Apparent prevention of neural tube defects by periconceptional vitamin supplementation von Smithells, RW, Sheppard, S, Schorah, CJ, Seller, MJ, Nevin, NC, Harris, R, Read, AP, Fielding, DW

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PAX genes von Strachan, Tom, Read, Andrew P.

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WAARDENBURG SYNDROME PATIENTS HAVE MUTATIONS IN THE HUMAN HOMOLOG OF THE PAX-3 PAIRED BOX GENE von TASSABEHJI, M, READ, AP, NEWTON, VE, HARRIS, R, BALLING, R, GRUSS, P, STRACHAN, T

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Elastin: mutational spectrum in supravalvular aortic stenosis von Metcalfe, K, Rucka, A K, Smoot, L, Hofstadler, G, Tuzler, G, McKeown, P, Siu, V, Rauch, A, Dean, J, Dennis, N, Ellis, I, Reardon, W, Cytrynbaum, C, Osborne, L, Yates, J R, Read, A P, Donnai, D, Tassabehji, M

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The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis von Hewitt, Chelsee, McCormick, Derek, Linden, Gerry, Turk, Dusan, Stern, Igor, Wallace, Ian, Southern, Louise, Zhang, Liqun, Howard, Rebecca, Bullon, Pedro, Wong, Melanie, Widmer, Richard, Gaffar, Khaled Abdul, Awawdeh, Lama, Briggs, Jim, Yaghmai, Reza, Jabs, Ethlin W., Hoeger, Peter, Bleck, Oliver, Rüdiger, Stefan G., Petersilka, Gregor, Battino, Maurizio, Brett, Peter, Hattab, Faiez, Al-Hamed, Mohamed, Sloan, Philip, Toomes, Carmel, Dixon, Mike, James, Jacqueline, Read, Andrew P., Thakker, Nalin

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An Elastin Gene Mutation Producing Abnormal Tropoelastin and Abnormal Elastic Fibres in a Patient with Autosomal Dominant Cutis Laxa von Tassabehji, Mayada, Metcalfe, Kay, Hurst, Jane, Ashcroft, Gillian S., Kielty, Cay, Wilmot, Carrie, Donnai, Dian, Read, Andrew P., Jones, Carolyn J. P.

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Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing von Sedlmeyer, Ines L., Pearce, Celeste Leigh, Trueman, Julie A., Butler, Johannah L., Bersaglieri, Todd, Read, Andrew P., Clayton, Peter E., Kolonel, Laurence N., Henderson, Brian E., Hirschhorn, Joel N., Palmert, Mark R.

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Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis von Tassabehji, Mayada, Metcalfe, Kay, Donnai, Dian, Hurst, Jane, Reardon, William, Burch, Michael, Read, Andrew P.

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies von Bondurand, Nadège, Kuhlbrodt, Kirsten, Pingault, Véronique, Enderich, Janna, Sajus, Marc, Tommerup, Niels, Warburg, Mette, Hennekam, Raoul C. M., Read, Andrew P., Wegner, Michael, Goossens, Michel

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