Search Results - "Roume, J"

Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview by 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

“…Abstract Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomic dominant disorder, which is characterized by the development…”
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Cornelia de Lange syndrome: specific features for prenatal diagnosis by Thellier, E., Levaillant, J. M., Roume, J., Quarello, E., Bault, J. P.

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

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

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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 by Ruano, R., Molho, M., Roume, J., Ville, Y.

“…Objective To evaluate the contribution of new imaging techniques in the prenatal diagnosis of skeletal dysplasia. Methods Between May and October 2003, a…”
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EP20.10: Early prenatal diagnosis of parasitic conjoint twin by Ruiz, M., Ville, Y., Quibel, T., Roume, J., Bessières, B., Bault, J.

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

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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 by 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

“…Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and…”
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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network by 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

“…Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous…”
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The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome by Hervé, B, Fauvert, D, Dard, R, Roume, J, Cognard, S, Goidin, D, Lozach, F, Molina-Gomes, D, Vialard, F

“…Abstract Microdeletion and microduplication syndromes are well-known causes of developmental delay and/or malformations of differing severity. It was recently…”
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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 by Hervé, B, Roume, J, Cognard, S, Fauvert, D, Molina-Gomes, D, Vialard, F

“…Abstract Microdeletion and microduplication syndromes are well-known causes of developmental delay and/or malformations of differing severity. Although…”
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Array comparative genomic hybridization in prenatal diagnosis: another experience by 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

“…Etiologic diagnosis of multiple congenital abnormalities (MCAs) is often lacking. Large chromosome abnormalities can be detected by conventional cytogenetic…”
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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension by Eyries, M, Coulet, F, Girerd, B, Montani, D, Humbert, M, Lacombe, P, Chinet, T, Gouya, L, Roume, J, Axford, MM, Pearson, CE, Soubrier, F

“…Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F. ACVRL1 germinal mosaic with two…”
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Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia by Jobert, A S, Zhang, P, Couvineau, A, Bonaventure, J, Roume, J, Le Merrer, M, Silve, C

“…We report the absence of functional parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors (PTH/PTHrP receptor) in Blomstrand chondrodysplasia, a…”
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Prenatal diagnosis of the duplication 17p11.2 associated with Potocki–Lupski syndrome in a foetus presenting with mildly dysmorphic features by Popowski, T, Molina-Gomes, D, Loeuillet, L, Boukobza, P, Roume, J, Vialard, F

“…Abstract Duplication 17p11.2 (Potocki–Lupski syndrome (PTLS) MIM# 610883 ) is a genomic disorder with an estimated incidence of 1 in 25,000 births. As for…”
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Perinatal-lethal Gaucher disease by 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.

“…Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients…”
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Prenatal diagnosis of genetic renal diseases: breaking the code by 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 by Burlet, P., Huber, C., Bertrandy, S., Ludosky, M. A., Zwaenepoel, I., Clermont, O., Roume, J., Delezoide, A. L., Cartaud, J., Munnich, A., Lefebvre, S.

“…Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord and…”
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OP04.02: Fetal low dose three‐dimensional multislice computed tomography: When? How? And results with a five years experience by Taifour, S., Quarello, E. R., Roume, J., Molho, M. D.

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A Gene for Meckel Syndrome Maps to Chromosome 11q13 by Roume, J., Genin, E., Cormier-Daire, V., Ma, H.W., Mehaye, B., Attie, T., Razavi-Encha, F., Fallet-Bianco, C., Buenerd, A., Clerget-Darpoux, F., Munnich, A., Le Merrer, M.

“…Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii)…”
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