Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

Por David, A., Bitoun, P., Lacombe, D., Lambert, J., Nivelon, A., Vigneron, J., Verloes, A.
Publicado em 1999

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

Por Faivre, L, Le Merrer, M, Al-Gazali, L, Ausems, M, Bitoun, P, Bacq, D, Maroteaux, P, Munnich, A, Cormier-Daire, V
Publicado em 2003

Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.

Por Semina, E. V., Datson, N. A., Leysens, N. J., Zabel, B. U., Carey, J. C., Bell, G. I., Bitoun, P., Lindgren, C., Stevenson, T., Frants, R. R., van Ommen, G., Murray, J. C.
Publicado em 1996

Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletion...

Por Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M‐C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie‐Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J‐P
Publicado em 2007

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Por Muller, Jean, Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M., Hellé, S., Marion, V., Bennouna-Greene, V., Vicaire, S., Megarbane, A., Kaplan, J., Drouin-Garraud, V., Hamdani, M., Sigaudy, S., Francannet, C., Roume, J., Bitoun, P., Goldenberg, A., Philip, N., Odent, S., Green, J., Cossée, M., Davis, E. E., Katsanis, N., Bonneau, D., Verloes, A., Poch, O., Mandel, J. L., Dollfus, H.
Publicado em 2010

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Por Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., Ohliger, S. J., Riazuddin, S., Morell, R. J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C. G., Cremers, C. W. R. J., Ayuso, C., Heckenlively, J. R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T. B., Kimberling, W. J.
Publicado em 2002