Search Results - "Assoum, M"

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features by Moutton, S., Bruel, A.‐L., Assoum, M., Chevarin, M., Sarrazin, E., Goizet, C., Guerrot, A.‐M., Charollais, A., Charles, P., Heron, D., Faudet, A., Houcinat, N., Vitobello, A., Tran‐Mau‐Them, F., Philippe, C., Duffourd, Y., Thauvin‐Robinet, C., Faivre, L.

“…Marfanoid habitus (MH) combined with intellectual disability (ID) is a genetically and clinically heterogeneous group of overlapping disorders. We performed…”
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The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization by Assoum, M., Salih, M. A., Drouot, N., Hnia, K., Martelli, A., Koenig, M.

“…We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a…”
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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays by H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.

“…The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically…”
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O.21 Genetic characterisation of PHARC – a novel syndrome resembling Refsum’s disease by Bindoff, L.A, Fiskerstrand, T, Brahim, D. H’mida-Ben, Johansson, S, M’zahem, A, Haukanes, B.I, Drouot, N, Zimmermann, J, Cole, A.J, Vedeler, C, Bredrup, C, Assoum, M, Tazir, M, Klockgether, T, Hamri, A, Steen, V.M, Boman, H, Koenig, M, Knappskog, P.M

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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations by Lefebvre, Mathilde, Bruel, Ange-Line, Tisserant, Emilie, Bourgon, Nicolas, Duffourd, Yannis, Collardeau-Frachon, Sophie, Attie-Bitach, Tania, Kuentz, Paul, Assoum, Mirna, Schaefer, Elise, El Chehadeh, Salima, Antal, Maria Cristina, Kremer, Valérie, Girard-Lemaitre, Françoise, Mandel, Jean-Louis, Lehalle, Daphne, Nambot, Sophie, Jean-Marçais, Nolwenn, Houcinat, Nada, Moutton, Sébastien, Marle, Nathalie, Lambert, Laetita, Jonveaux, Philippe, Foliguet, Bernard, Mazutti, Jean-Pierre, Gaillard, Dominique, Alanio, Elisabeth, Poirisier, Celine, Lebre, Anne-Sophie, Aubert-Lenoir, Marion, Arbez-Gindre, Francine, Odent, Sylvie, Quélin, Chloé, Loget, Philippe, Fradin, Melanie, Willems, Marjolaine, Bigi, Nicole, Perez, Marie-José, Blesson, Sophie, Francannet, Christine, Beaufrere, Anne-Marie, Patrier-Sallebert, Sophie, Guerrot, Anne-Marie, Goldenberg, Alice, Brehin, Anne-Claire, Lespinasse, James, Touraine, Renaud, Capri, Yline, Saint-Frison, Marie-Hélène, Laurent, Nicole, Philippe, Christophe, Tran Mau-Them, Frederic, Thevenon, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Vitobello, Antonio

“…Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some…”
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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

“…Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing…”
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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients by Lehalle, Daphné, Bruel, Ange‐Line, Vitobello, Antonio, Denommé‐Pichon, Anne‐Sophie, Duffourd, Yannis, Assoum, Mirna, Amiel, Jeanne, Baujat, Geneviève, Bessieres, Bettina, Bigoni, Stefania, Burglen, Lydie, Captier, Guillaume, Dard, Rodolphe, Edery, Patrick, Fortunato, Fernanda, Geneviève, David, Goldenberg, Alice, Guibaud, Laurent, Héron, Delphine, Holder‐Espinasse, Muriel, Lederer, Damien, Lopez Grondona, Fermina, Grotto, Sarah, Marlin, Sandrine, Nadeau, Gwenaël, Picard, Arnaud, Rossi, Massimiliano, Roume, Joëlle, Sanlaville, Damien, Saugier‐Veber, Pascale, Triau, Stéphane, Valenzuela Palafoll, Maria Irene, Vanlerberghe, Clémence, Van Maldergem, Lionel, Vezain, Myriam, Vincent‐Delorme, Catherine, Zivi, Einat, Thevenon, Julien, Vabres, Pierre, Thauvin‐Robinet, Christel, Callier, Patrick, Faivre, Laurence

“…Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well‐known Pai syndrome (PS), to the less recognized…”
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ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q sub(10) Deficiency by Lagler-Tourenne, C, Tazir, M, Lopez, L C, Quinzli, C M, Assoum, M, Drouot, N, Busso, C, Makri, S, Ali-Pacha, L, Benhassine, T, Anheim, M, Lynch, DR, Thibault, C, Koenig, M

“…Muscle coenzyme Q sub(10) (C0Q sub(10) or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia…”
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ARCA2 : une nouvelle ataxie cérébelleuse autosomique récessive liée à des mutations du gène ADCK3 by Anheim, M., Lagier-Tourenne, C., Tazir, M., Lopez, L.C., Quinzii, C.M., Drouot, N., Assoum, M., Makri, S., Ali-Pacha, L., Lynch, D., Mandel, J.L., Hirano, M., Tranchant, C., Koenig, M.

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Paper # 243: Ten Years Follow-Up of 124 Opening Wedge High Tibial Osteotomies Filled by Tricalcium Phosphate Wedge and Fixed by AO T-Plate by Saragaglia, Dominique, Prof of Orthopaedics, FRANCE, Blaysat, Marc, MD, FRANCE, Mercier, Numa, MD, FRANCE, Assoum, Hani, MD, FRANCE, Plaweski, Stephane, MD, PhD, FRANCE

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