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Your search keyword '"Chabrol, Brigitte"' showing total 7 results
Start Over Author "Chabrol, Brigitte" Journal european journal of human genetics
7 results on '"Chabrol, Brigitte"'

1. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Author

Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, and Cossée, Mireille

Published
2019
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2. A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Author

Krahn, Martin, primary, Biancalana, Valérie, additional, Cerino, Mathieu, additional, Perrin, Aurélien, additional, Michel-Calemard, Laurence, additional, Nectoux, Juliette, additional, Leturcq, France, additional, Bouchet-Séraphin, Céline, additional, Acquaviva-Bourdain, Cécile, additional, Campana-Salort, Emmanuelle, additional, Molon, Annamaria, additional, Urtizberea, Jon Andoni, additional, Audic, Frédérique, additional, Chabrol, Brigitte, additional, Pouget, Jean, additional, Froissart, Roseline, additional, Melki, Judith, additional, Rendu, John, additional, Petit, François, additional, Métay, Corinne, additional, Seta, Nathalie, additional, Sternberg, Damien, additional, Fauré, Julien, additional, and Cossée, Mireille, additional

Published
2018
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3. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Author

Rouzier, Cécile, primary, Chaussenot, Annabelle, additional, Serre, Valérie, additional, Fragaki, Konstantina, additional, Bannwarth, Sylvie, additional, Ait-El-Mkadem, Samira, additional, Attarian, Shahram, additional, Kaphan, Elsa, additional, Cano, Aline, additional, Delmont, Emilien, additional, Sacconi, Sabrina, additional, de Camaret, Bénédicte Mousson, additional, Rio, Marlène, additional, Lebre, Anne-Sophie, additional, Jardel, Claude, additional, Deschamps, Romain, additional, Richelme, Christian, additional, Pouget, Jean, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Véronique, additional

Published
2013
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5. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

Author

Viollet, Louis, primary, Zarhrate, Mohammed, additional, Maystadt, Isabelle, additional, Estournet-Mathiaut, Brigitte, additional, Barois, Annie, additional, Desguerre, Isabelle, additional, Mayer, Michèle, additional, Chabrol, Brigitte, additional, LeHeup, Bruno, additional, Cusin, Veronica, additional, Billette de Villemeur, Thierry, additional, Bonneau, Dominique, additional, Saugier-Veber, Pascale, additional, Touzery-de Villepin, Anne, additional, Delaubier, Anne, additional, Kaplan, Jocelyne, additional, Jeanpierre, Marc, additional, Feingold, Joshué, additional, and Munnich, Arnold, additional

Published
2004
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6. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

Author

Villard, Laurent, primary, des Portes, Vincent, additional, Levy, Nicolas, additional, Louboutin, Jean-Pierre, additional, Recan, Dominique, additional, Coquet, Michelle, additional, Chabrol, Brigitte, additional, Figarella-Branger, Dominique, additional, Chelly, Jamel, additional, Pellissier, Jean-François, additional, and Fontes, Michel, additional

Published
2000
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7. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Author

Rouzier, Cécile, Chaussenot, Annabelle, Serre, Valérie, Fragaki, Konstantina, Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Attarian, Shahram, Kaphan, Elsa, Cano, Aline, Delmont, Emilien, Sacconi, Sabrina, de Camaret, Bénédicte Mousson, Rio, Marlène, Lebre, Anne-Sophie, Jardel, Claude, Deschamps, Romain, Richelme, Christian, Pouget, Jean, Chabrol, Brigitte, and Paquis-Flucklinger, Véronique

Subjects
MITOCHONDRIAL pathology, POLYMERASE genetics, GENETIC mutation, NUCLEOTIDE sequence, POLYMERASE chain reaction, COHORT analysis, GENETICS
Abstract

Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions and insertions have also been identified. However, to date, only one large-scale rearrangement has been described in a child with Alpers syndrome. Below, we report a large cohort of 160 patients with clinical, molecular and/or biochemical presentation suggestive of POLG deficiency. Using sequencing, we identified POLG variants in 22 patients (18 kindreds) including five novel pathogenic mutations. Two patients with novel mutations had unusual clinical presentation: the first exhibited an isolated ataxic neuropathy and the second was a child who presented with endocrine signs. We completed the sequencing step by quantitative multiplex PCR of short fluorescent fragments (QMPSF) analysis in 37 patients with either only one POLG heterozygous variant or a family history suggesting a dominant transmission. We identified a large intragenic deletion encompassing part of intron 21 and exon 22 of POLG in a child with refractory epilepsia partialis continua. In conclusion, we describe the first large French cohort of patients with POLG mutations, expanding the wide clinical and molecular spectrum observed in POLG disease. We confirm that large deletions in the POLG gene are rare events and we highlight the importance of QMPSF in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes. [ABSTRACT FROM AUTHOR]

Published
2014
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