Search Results - "EL GHOUZZI, V"

Succinate dehydrogenase deficiency in human by Brière, J-J, Favier, J, El Ghouzzi, V, Djouadi, F, Bénit, P, Gimenez, A-P, Rustin, P

“…Mitochondrial succinate dehydrogenase (SDH) consists merely of four nuclearly encoded subunits. It participates in the electron transfer in the respiratory…”
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Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 by Thauvin-Robinet, C, El Ghouzzi, V, Chemaitilly, W, Dagoneau, N, Boute, O, Viot, G, Mégarbané, A, Sefiani, A, Munnich, A, Le Merrer, M, Cormier-Daire, V

“…Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies,…”
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Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures by De Bundel, Dimitri, Fafouri, Assia, Csaba, Zsolt, Loyens, Ellen, Lebon, Sophie, El Ghouzzi, Vincent, Peineau, Stéphane, Vodjdani, Guilan, Kiagiadaki, Foteini, Aourz, Najat, Coppens, Jessica, Walrave, Laura, Portelli, Jeanelle, Vanderheyden, Patrick, Chai, Siew Yeen, Thermos, Kyriaki, Bernard, Véronique, Collingridge, Graham, Auvin, Stéphane, Gressens, Pierre, Smolders, Ilse, Dournaud, Pascal

“…Within the hippocampus, the major somatostatin (SRIF) receptor subtype, the sst2A receptor, is localized at postsynaptic sites of the principal neurons where…”
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Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome by El Ghouzzi, Vincent, Dagoneau, Nathalie, Kinning, Esther, Thauvin-Robinet, Christel, Chemaitilly, Wassim, Prost-Squarcioni, Catherine, Al-Gazali, Lihadh I., Verloes, Alain, Le Merrer, Martine, Munnich, Arnold, Trembath, Richard C., Cormier-Daire, Valérie

“…Dyggve–Melchior–Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. DMC is characterized by the…”
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Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1) by Rousseau, F., El Ghouzzi, V., Delezoide, A. L., Legeai-Mallet, L., Le Merrer, M., Munnich, A., Bonaventure, J.

“…Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic…”
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Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation by Lajeunie, Elisabeth, El Ghouzzi, Vincent, Le Merrer, Martine, Munnich, Arnold, Bonaventure, Jacky, Renier, Dominique

“…A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal…”
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location by EL GHOUZZI, V, LEGEAI-MALLET, L, ARESTA, S, BENOIST, C, MUNNICH, A, DE GUNZBURG, J, BONAVENTURE, J

“…H-TWIST belongs to the family of basic helix-loop-helix (bHLH) transcription factors known to exert their activity through dimer formation. We have…”
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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis : clinical spectrum, prevalence, and surgical outcome by RENIER, D, EL GHOUZZI, V, BONAVENTURE, J, LE MERRER, M, LAJEUNIE, E

“…A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of…”
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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report by Uwineza, Annette, Caberg, Jean-Hubert, Hitayezu, Janvier, Wenric, Stephane, Mutesa, Leon, Vial, Yoann, Drunat, Séverine, Passemard, Sandrine, Verloes, Alain, El Ghouzzi, Vincent, Bours, Vincent

“…Whole exome sequencing undertaken in two siblings with delayed psychomotor development, absent speech, severe intellectual disability and postnatal…”
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Overlap between Baller-Gerold and Rothmund-Thomson syndrome by Mégarbané, A, Melki, I, Souraty, N, Gerbaka, J, El Ghouzzi, V, Bonaventure, J, Mornand, A, Loiselet, J

“…We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first…”
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Mutations of the TWIST gene in the Saethre-Chotzen syndrome by EL GHOUZZI, V, LE MERRER, M, PERRIN-SCHMITT, F, LAJEUNIE, E, BENIT, P, RENIER, D, BOURGEOIS, P, BOLCATO-BELLEMIN, A.-L, MUNNICH, A, BONAVENTURE, J

“…Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and…”
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Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFα expression and caspase-2 activation by YOUSFI, Malika, LASMOLES, Francoise, EL GHOUZZI, Vincent, MARIE, Pierre J

“…Saethre-Chotzen syndrome (SCS) is a human autosomal dominant disorder characterized by premature fusion of cranial sutures caused by mutations of the Twist…”
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Craniosynostosis and fetal exposure to sodium valproate by LAJEUNIE, Elizabeth, BARCIK, U. L. I, THORNE, John A, EL GHOUZZI, Vincent, BOURGEOIS, Marie, RENIER, Dominique

“…Fetal valproate syndrome affects one in 10 children born to mothers who ingest sodium valproate regularly during pregnancy. It has been described as producing…”
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Apoptosis-lnducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology by El Ghouzzi, V, Csaba, Z, Olivier, P, Lelouvier, B, Schwendimann, L, Dournaud, P, Verney, C, Rustin, P, Gressens, P

“…Apoptosis-inducing factor (AIF) deficiency compromises oxidative phosphorylation. Harlequin mice, in which AIF is downregulated, develop a severe mitochondrial…”
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Recent advances in Dyggve–Melchior–Clausen syndrome by Paupe, Vincent, Gilbert, Thierry, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie, El Ghouzzi, Vincent

“…Dyggve–Melchior–Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and…”
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Monozygotic twins with Crouzon syndrome: Concordance for craniosynostosis and discordance for thumb duplication by Lajeunie, E., Bonaventure, J., El Ghouzzi, V., Catala, M., Renier, D.

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Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome by El Ghouzzi, Vincent, Legeai-Mallet, Laurence, Benoist-Lasselin, Catherine, Lajeunie, Elisabeth, Renier, Dominique, Munnich, Arnold, Bonaventure, Jacky

“…Saethre–Chotzen syndrome is an autosomal dominant skull disorder resulting from premature fusion of coronal sutures (craniosynostosis). It is caused by…”
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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus by Dimitrov, Ariane, Paupe, Vincent, Gueudry, Charles, Sibarita, Jean-Baptiste, Raposo, Graça, Vielemeyer, Ole, Gilbert, Thierry, Csaba, Zsolt, Attie-Bitach, Tania, Cormier-Daire, Valérie, Gressens, Pierre, Rustin, Pierre, Perez, Franck, El Ghouzzi, Vincent

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Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome by El Ghouzzi, V, Lajeunie, E, Le Merrer, M, Cormier-Daire, V, Renier, D, Munnich, A, Bonaventure, J

“…Saethre-Chotzen syndrome (ACS III) is an autosomal dominant craniosynostosis syndrome recently ascribed to mutations in the TWIST gene, a basic…”
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Mutations of the TWIST gene in the Saethre-Chotzene syndrome by Renier, Dominique, Bolcato-Bellemin, Anne-Laure, Munnich, Arnold, Bourgeois, Patrice, Bonaventure, Jacky, Merrer, Martine Le, Perrin-Schmitt, Fabienne, Ghouzzi, Vincent El, Lajeunie, Elisabeth, Benit, Paule

“…Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and…”
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