Search Results - "TOUTAIN, A"

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability by Bonnet-Brilhault, F, Alirol, S, Blanc, R, Bazaud, S, Marouillat, S, Thépault, R-A, Andres, C R, Lemonnier, É, Barthélémy, C, Raynaud, M, Toutain, A, Gomot, M, Laumonnier, F

“…Phenotypic and genetic heterogeneity is predominant in autism spectrum disorders (ASD), for which the molecular and pathophysiological bases are still unclear…”
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RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes by Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M.-A., Mayer, M., Rodriguez, D., Burglen, L.

“…Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients…”
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia by Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

“…Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide…”
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants by Lerat, J., Magdelaine, C., Lunati, A., Dzugan, H., Dejoie, C., Rego, M., Beze Beyrie, P., Bieth, E., Calvas, P., Cintas, P., Delaubrier, A., Demurger, F., Gilbert-Dussardier, B., Goizet, C., Journel, H., Laffargue, F., Magy, L., Taithe, F., Toutain, A., Urtizberea, J.A., Sturtz, F., Lia, A.S.

“…The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series…”
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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability by Vuillaume, M.-L., Cogné, B., Jeanne, M., Boland, A., Ung, D.-C., Quinquis, D., Besnard, T., Deleuze, J.-F., Redon, R., Bézieau, S., Laumonnier, F., Toutain, A.

“…The FOXP1 gene, located on chromosome 3p13, encodes the Forkhead-box protein P1, one of the four forkhead transcription factors which repress transcription by…”
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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder by Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.

“…Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as…”
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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression by Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel

“…The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is…”
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Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis? by Vuillaume, M.‐L., Moizard, M.‐P., Hammouche, E., Delrue, M.‐A., Perrin, L., Maftei, C., Dupont, C., Drunat, S., Cottereau, E., Baumann, C., Toutain, A.

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Small patella syndrome: New clinical and molecular insights into a consistent phenotype by Vanlerberghe, C., Jourdain, A.‐S., Dieux, A., Toutain, A., Callewaert, B., Dupuis‐Girod, S., Unger, S., Wright, M., Isidor, B., Ghoumid, J., Petit, F., Boutry, N., Escande, F., Manouvrier‐Hanu, S.

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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study by Thauvin-Robinet, C, Cossée, M, Cormier-Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R, Faivre, L

“…Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include…”
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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations by Solé, G, Coupry, I, Rooryck, C, Guérineau, E, Martins, F, Devés, S, Hubert, C, Souakri, N, Boute, O, Marchal, C, Faivre, L, Landré, E, Debruxelles, S, Dieux-Coeslier, A, Boulay, C, Chassagnon, S, Michel, V, Routon, M-C, Toutain, A, Philip, N, Lacombe, D, Villard, L, Arveiler, B, Goizet, C

“…Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are…”
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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly by Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C., Fischbach, M., Marion, V., Katsanis, N., Dollfus, H.

“…The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl…”
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Multitissular involvement in a family with LMNA and EMD mutations : Role of digenic mechanism? by BEN YAOU, R, TOUTAIN, A, LITIM, K. E, RAHMOUN-CHIALI, N, RICHARD, P, BABUTY, D, RECAN-BUDIARTHA, D, BONNE, G, ARIMURA, T, DEMAY, L, MASSART, C, PECCATE, C, MUCHIR, A, LLENSE, S, DEBURGRAVE, N, LETURCQ, F

“…Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, are responsible for the X-linked and autosomal dominant and recessive forms of…”
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements by Dimitrov, B I, de Ravel, T, Van Driessche, J, de Die-Smulders, C, Toutain, A, Vermeesch, J R, Fryns, J P, Devriendt, K, Debeer, P

“…The 10q24 chromosomal region has previously been implicated in split hand foot malformation (SHFM). SHFM3 was mapped to a large interval on chromosome 10q. The…”
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New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation by Curie, A, Friocourt, G, Bertrand, S, Rochefort, F, Loaëc, N, Reboul, A, Nazir, T, Brun-Laurisse, A, Cheylus, A, Bussy, G, Paulignan, Y, Toutain, A, Mortemousque, I, Gilbert-Dussardier, B, Prieur, F, Touraine, R, Hadjikhani, N, Gollub, R, Bobillier-Chaumont, I, des Portes, V

“…Objective: The ARX (Aristaless Related homeoboX) gene encodes a transcription factor which mutations have been associated with syndromes ranging from severe…”
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Phenotype and genotype in females with POU3F4 mutations by Marlin, S, Moizard, MP, David, A, Chaissang, N, Raynaud, M, Jonard, L, Feldmann, D, Loundon, N, Denoyelle, F, Toutain, A

“…X‐linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non‐syndromic hearing loss. To date, four…”
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Congenital myasthenic syndromes in childhood: Drug therapeutic strategies by de la Vaissière, S, Toutain, A, Chêne, M-A, Lagrue, E, Cantagrel, S, Provost, S, Eymard, B, Castelnau, P

“…Congenital myasthenia syndromes (CMS) are a group of genetic disorders responsible for neuromuscular junction dysfunction. Usually beginning before 2 years of…”
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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity by Blons, H, Feldmann, D, Duval, V, Messaz, O, Denoyelle, F, Loundon, N, Sergout-Allaoui, A, Houang, M, Duriez, F, Lacombe, D, Delobel, B, Leman, J, Catros, H, Journel, H, Drouin-Garraud, V, Obstoy, M-F, Toutain, A, Oden, S, Toublanc, JE, Couderc, R, Petit, C, Garabédian, E-N, Marlin, S

“…Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of…”
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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3 by Delahaye, A, Toutain, A, Aboura, A, Dupont, C, Tabet, A.C, Benzacken, B, Elion, J, Verloes, A, Pipiras, E, Drunat, S

“…Abstract Background The 22q13.3 deletion syndrome (or Phelan-McDermid syndrome, MIM 606232) is characterized by developmental delay, absent or severely delayed…”
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PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience by Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cavé, H

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