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Affichage: 4 résultats.
    • Article de périodique
    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
    Piard, J. Aral, B. Vabres, P. Holder-Espinasse, M. Mégarbané, A. Gauthier, S. Capra, V. Pierquin, G. Callier, P. Baumann, C. Pasquier, L. Baujat, G. Martorell, L. Rodriguez, A. Brady, A.F. Boralevi, F. González-Enseñat, M.A. Rio, M. Bodemer, C. Philip, N. Cordier, M.-P. Goldenberg, A. Demeer, B. Wright, M. Blair, E. Puzenat, E. Parent, P. Sznajer, Yves[UCL] Francannet, C. Didonato, N. Boute, O. Barlogis, V. Moldovan, O. Bessis, D. Coubes, C. Tardieu, M. Cormier-Daire, V. Sousa, A.B. Franques, J. Toutain, A. Tajir, M. Elalaoui, S.C. Geneviève, D. Thevenon, J. Courcet, J.-B. Rivière, J.-B. Collet, C. Gigot, N. Faivre, L. Thauvin-Robinet, C. (2015) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 87, no. 3, p. 244-251 (2015)
    • Article de périodique
    Severe Smith-lemli-opitz Syndrome With Prolonged Survival and Lipid Abnormalities
    Pierquin, G. Peeters, Patrick[UCL] Roels, F. Vamos, E. Brucher, Jean-Marie[UCL] Tint, GS. Honda, A. Vanregemorter, N. (1995) American Journal of Medical Genetics — Vol. 56, no. 3, p. 276-280 (1995)
    • Article de périodique
    FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions
    D'haene, B. Courtens, Winnie[UCL] Nevado, J. Pugeat, M. Pierquin, G. Lowry, R. B. Reardon, W. Delicado, A. Garcia-Minaur, S. Palomares, M. Stefanova, M. Wallace, S. Watkins, W. Shelling, A. N. Wieczorek, D. Veitia, R. A. De Paepe, A. Lapunzina, P. De Baere, E. (2010) Human Mutation — Vol. 31, no. 5, p. E1332-+ (2010)
    • Article de périodique
    IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign.
    Desmyter, Laurence[UCL] Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Boute, O Lees, M François, Geneviève[UCL] Dumoulin, Christine[UCL] Sznajer, Yves[UCL] Moncla, A Benateau, H. Claes, K Devriendt, Koenraad Mathieu, M. Van Maldergem, L. Addor, M.-C. Drouin-Garraud, V Mortier, G. Bouma, M Dieux-Coeslier, A Genevieve, D Goldenberg, A Gozu, A Makrythanasis, P McEntagart, U Sanchez, A. Vilain, C. Vermeer, S Connell, F Verheij, J Manouvrier, S Pierquin, G. Odent, S Holder-Espinasse, M Vincent-Delorme, C Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2010) Molecular Syndromology — Vol. 1, no. 2, p. 67-74 (2010)