Search Results - "Francannet, C"

FOXE3 mutations: genotype‐phenotype correlations by Plaisancié, J., Ragge, N.K., Dollfus, H., Kaplan, J., Lehalle, D., Francannet, C., Morin, G., Colineaux, H., Calvas, P., Chassaing, N.

“…Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes…”
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SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients by Mouillé, M, Rio, M, Breton, S, Piketty, M L, Afenjar, A, Amiel, J, Capri, Y, Goldenberg, A, Francannet, C, Michot, C, Mignot, C, Perrin, L, Quelin, C, Van Gils, J, Barcia, G, Pingault, V, Maruani, G, Koumakis, E, Cormier-Daire, V

“…Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of…”
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Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry‐based study by Gallot, D., Boda, C., Ughetto, S., Perthus, I., Robert‐Gnansia, E., Francannet, C., Laurichesse‐Delmas, H., Jani, J., Coste, K., Deprest, J., Labbe, A., Sapin, V., Lemery, D.

“…Objectives To describe the true incidence, prenatal detection rate and fetal outcome of congenital diaphragmatic hernia (CDH) in a systematically registered…”
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Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex by Bruet, S., Francannet, C., Marguet, F., Biard, M., Sarret, C., Laurichesse Delmas, H.

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Implication of non-coding PAX6 mutations in aniridia by Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.

“…There is an increasing implication of non-coding regions in pathological processes of genetic origin. This is partly due to the emergence of sophisticated…”
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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females by Philippe, C, Amsallem, D, Francannet, C, Lambert, L, Saunier, A, Verneau, F, Jonveaux, P

“…The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the fork-head box protein G1, a winged-helix…”
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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families by Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, K, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M

“…Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation,…”
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The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations by Pradat, P, Francannet, C, Harris, J A, Robert, E

“…To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or…”
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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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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype by Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

“…Molecular anomalies in MED13L , leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct…”
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Occupational exposure to organic solvent mixtures during pregnancy and the risk of non-syndromic oral clefts by Chevrier, C, Dananché, B, Bahuau, M, Nelva, A, Herman, C, Francannet, C, Robert-Gnansia, E, Cordier, S

“…Objectives: To examine the association between maternal occupational exposure to mixtures of organic solvents during pregnancy and the risk of non-syndromic…”
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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes by 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, Y., 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.

“…Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations…”
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Genotype-phenotype correlation in hereditary multiple exostoses by Francannet, C, Cohen-Tanugi, A, Le Merrer, M, Munnich, A, Bonaventure, J, Legeai-Mallet, L

“…Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly…”
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Three new cases of asparagine synthetase deficiency: Confirmation of a poor neurological outcome and a new molecular mechanism by Faoucher, M, Putoux, A, Francannet, C, Poulat, A.L, Chatron, N, Aquaviva, C, Labalme, A, Schluth-Bolard, C, Till, M, Saban, C, Desportes, V, Sanlaville, D, Edery, P, Lesca, G

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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability by Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, PS, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, MC, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin- Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca- Boidron, AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L

“…The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic…”
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SALL4 and NFATC2 : Two major actors of interstitial 20q13.2 duplication by Briand-Suleau, A, Martinovic, J, Tosca, L, Tou, B, Brisset, S, Bouligand, J, Delattre, V, Giurgea, I, Bachir, J, Folliot, P, Goumy, C, Francannet, C, Guiochon-Mantel, A, Benachi, A, Vermeesch, J, Tachdjian, G, Vago, P, Goossens, M, Métay, C

“…Abstract Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and…”
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Macrocephaly-capillary malformation. A neonatal case by Coste, K, Sarret, C, Cisse, A, Delabaere, A, Francannet, C, Vanlieferinghen, P

“…Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis…”
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Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region by Goumy, C., Gouas, L., Tchirkov, A., Roucaute, T., Giollant, M., Veronèse, L., Francannet, C., Vago, P.

“…We present the prenatal diagnosis of a chromosome 11q14.3–q22.1 deletion identified in three generations without apparent phenotypic consequences. A…”
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The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations by Harris, J A, Francannet, C, Pradat, P, Robert, E

“…There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies;…”
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Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome by Gremeau, A. S., Coste, K., Blanc, P., Goumy, C., Francannet, C., Dechelotte, P. J., Vago, P., Laurichesse-Delmas, H., Labbe, A., Lemery, D., Sapin, V., Gallot, D.

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