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Published in Journal of medical genetics (01.10.1997)
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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
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Published in Science (American Association for the Advancement of Science) (21.09.2001)
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Molecular study of 33 families with Fraser syndrome new data and mutation review
van Haelst, M.M., Maiburg, M., Baujat, G., Jadeja, S., Monti, E., Bland, E., Pearce, K., Hennekam, R.C., Scambler, P.J.
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Published in American journal of medical genetics. Part A (01.09.2008)
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Absence of the vagus nerve in the stomach of Tbx1−/− mutant mice
Calmont, A., Thapar, N., Scambler, P. J., Burns, A. J.
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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
Superti-Furga, Andrea, Shears, Deborah J, Reardon, William, Palmer, Rodger W, Vassal, Humberto J, Scambler, Peter J, Winter, Robin M, Goodman, Frances R
Published in Nature genetics (01.05.1998)
Published in Nature genetics (01.05.1998)
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Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract
Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R. M., Olsen, B. R., Scambler, P. J.
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.1997)
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Deletion of 150 kb in the Minimal Digeorge/Velocardiofacial Syndrome Critical Region in Mouse
Kimber, Wendy L., Hsieh, Patrick, Hirotsune, Shinji, Yuva-Paylor, Lisa, Sutherland, Helen F., Chen, Amy, Ruiz-Lozano, Pilar, Hoogstraten-Miller, Shelley L., Chien, Kenneth R., Paylor, Richard, Scambler, Peter J., Wynshaw-Boris, Anthony
Published in Human molecular genetics (01.11.1999)
Published in Human molecular genetics (01.11.1999)
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Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
Scambler, P.J, Kelly, D, Lindsay, E, Williamson, R, Goldberg, R, Shprintzen, R, Wilson, D.I, Goodship, J.A, Cross, I.E, Burn, J
Published in The Lancet (British edition) (09.05.1992)
Published in The Lancet (British edition) (09.05.1992)
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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C.M., Scambler, Peter J.
Published in American journal of human genetics (01.07.2000)
Published in American journal of human genetics (01.07.2000)
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Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
Pitera, Jolanta E., Scambler, Peter J., Woolf, Adrian S.
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Morgan, N V, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G B, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D A, Trembath, R C, Scambler, P J, Maher, E R, Goodman, F R, Johnson, C A
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome
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Published in American journal of human genetics (01.07.1996)
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Published in American journal of human genetics (01.07.1996)
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Deletions within chromosome 22q11 in familial congenital heart disease
Wilson, D.I, Goodship, J.A, Burn, J, Cross, I.E, Scambler, P.J
Published in The Lancet (British edition) (05.09.1992)
Published in The Lancet (British edition) (05.09.1992)
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Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
Debeer, P, Bacchelli, C, Scambler, P J, De Smet, L, Fryns, J-P, Goodman, F R
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
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Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
LICHTNER, P, ATTIE-BITACH, T, SCHUFFENHAUER, S, HENWOOD, J, BOUVAGNET, P, SCAMBLER, P. J, MEITINGER, T, VEKEMANS, M
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2002)
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2002)
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Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
MATSUOKA, R, KIMURA, M, OYAMA, K, SAJI, T, ANDO, M, TAKAO, A, MOMMA, K, SCAMBLER, P. J, MORROW, B. E, IMAMURA, S.-I, MINOSHIMA, S, SHIMIZU, N, YAMAGISHI, H, JOH-O, K, WATANABE, S
Published in Human genetics (01.07.1998)
Published in Human genetics (01.07.1998)
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