Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview von Lacombe, P, Lacout, A, Marcy, P.-Y, Binsse, S, Sellier, J, Bensalah, M, Chinet, T, Bourgault-Villada, I, Blivet, S, Roume, J, Lesur, G, Blondel, J.-H, Fagnou, C, Ozanne, A, Chagnon, S, El Hajjam, M

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Cornelia de Lange syndrome: specific features for prenatal diagnosis von Thellier, E., Levaillant, J. M., Roume, J., Quarello, E., Bault, J. P.

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P10.11: Second trimester prenasal and prefrontal skin thickening – association with Waardenburg syndrome von Duvillier, C., Roume, J., Bault, J., Thibaud, Q.

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P21.07: Preauricular tags von Plougoux, V., Roume, J., Quibel, T., Bault, J.

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Prenatal diagnosis of fetal skeletal dysplasias by combining two‐dimensional and three‐dimensional ultrasound and intrauterine three‐dimensional helical computer tomography von Ruano, R., Molho, M., Roume, J., Ville, Y.

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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network von Lesca, Gaëtan, Olivieri, Carla, Burnichon, Nelly, Pagella, Fabio, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Roume, Joelle, Rabilloud, Muriel, Saurin, Jean-Christophe, Cottin, Vincent, Honnorat, Jerome, Coulet, Florence, Giraud, Sophie, Calender, Alain, Danesino, Cesare, Buscarini, Elisabetta, Plauchu, Henri

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

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EP12.01: Noonan syndrome: new features von Bouchghoul, H., Colmant, C., Senat, M., Roume, J., Labrune, P., Bault, J.

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EP20.10: Early prenatal diagnosis of parasitic conjoint twin von Ruiz, M., Ville, Y., Quibel, T., Roume, J., Bessières, B., Bault, J.

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The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome von Hervé, B, Fauvert, D, Dard, R, Roume, J, Cognard, S, Goidin, D, Lozach, F, Molina-Gomes, D, Vialard, F

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Low-level mosaicism of a de novo derivative chromosome 9 from a t(5;9)(q35.1;q34.3) has a major phenotypic impact von Hervé, B, Roume, J, Cognard, S, Fauvert, D, Molina-Gomes, D, Vialard, F

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Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia von Jobert, A S, Zhang, P, Couvineau, A, Bonaventure, J, Roume, J, Le Merrer, M, Silve, C

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L’hypoplasie surrénale congénitale de type anencéphalique : deux cas avec anomalies hypophysaires, sans mutation de DAX-1 et SF-1 et revue de la littérature von Folligan, K., Roume, J., Razavi, F., Sepaniak, S., Bouvier, R., Morel, Y., Trouillas, J.

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Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience von Vialard, F., Molina Gomes, D., Leroy, B., Quarello, E., Escalona, A., Le Sciellour, C., Serazin, V., Roume, J., Ville, Y., de Mazancourt, P., Selva, J.

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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension von Eyries, M, Coulet, F, Girerd, B, Montani, D, Humbert, M, Lacombe, P, Chinet, T, Gouya, L, Roume, J, Axford, MM, Pearson, CE, Soubrier, F

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Prenatal diagnosis of the duplication 17p11.2 associated with Potocki–Lupski syndrome in a foetus presenting with mildly dysmorphic features von Popowski, T, Molina-Gomes, D, Loeuillet, L, Boukobza, P, Roume, J, Vialard, F

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Perinatal-lethal Gaucher disease von Mignot, C., Gelot, A., Bessières, B., Daffos, F., Voyer, M., Menez, F., Fallet Bianco, C., Odent, S., Le Duff, D., Loget, P., Fargier, P., Costil, J., Josset, P., Roume, J., Vanier, MT, Maire, I., Billette de Villemeur, T.

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Prenatal diagnosis of genetic renal diseases: breaking the code von Roume, J., Ville, Y.

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The Distribution of SMN Protein Complex in Human Fetal Tissues and Its Alteration in Spinal Muscular Atrophy von Burlet, P., Huber, C., Bertrandy, S., Ludosky, M. A., Zwaenepoel, I., Clermont, O., Roume, J., Delezoide, A. L., Cartaud, J., Munnich, A., Lefebvre, S.

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OP04.02: Fetal low dose three‐dimensional multislice computed tomography: When? How? And results with a five years experience von Taifour, S., Quarello, E. R., Roume, J., Molho, M. D.

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