Search Results - "ROUZIER, C"

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA) by Rouzier, C., Chaussenot, A., Paquis-Flucklinger, V.

“…Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disorder caused by bi-allelic pathogenic variants in the SMN1 gene. 95% of SMA patients…”
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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype by Rouzier, Cécile, Bannwarth, Sylvie, Chaussenot, Annabelle, Chevrollier, Arnaud, Verschueren, Annie, Bonello-Palot, Nathalie, Fragaki, Konstantina, Cano, Aline, Pouget, Jean, Pellissier, Jean-François, Procaccio, Vincent, Chabrol, Brigitte, Paquis-Flucklinger, Véronique

“…MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with…”
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The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients by Baz, M., Gondran-Teiller, V., Bressac, B., Cabaret, O., Fievet, A., Dimaria, M., Goldbarg, V., Colas, C., Bonnet-Dupeyron, M. N., Tinat, J., Lebrun, M., Mari, V., Limacher, J. M., Corsini, C., Ginglinger, E., Saurin, J. C., Brahimi, A., Rouzier, C., Giraud, S., Schuster, H., Hollebecque, A., Boige, V., Cauchin, E., Malka, D., Caron, O., Rouleau, E.

“…Germline DNA alterations affecting homologous recombination pathway genes have been associated with pancreatic cancer (PC) risk. BRCA2 is the most studied gene…”
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Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders by Chaussenot, A., Rouzier, C., Quere, M., Plutino, M., Ait-El-Mkadem, S., Bannwarth, S., Barth, M., Dollfus, H., Charles, P., Nicolino, M., Chabrol, B., Vialettes, B., Paquis-Flucklinger, V.

“…WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile‐onset diabetes mellitus and optic atrophy, and for low‐frequency…”
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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation by Guissart, C, Dubucs, C, Raynal, C, Girardet, A, Tran Mau Them, F, Debant, V, Rouzier, C, Boureau-Wirth, A, Haquet, E, Puechberty, J, Bieth, E, Dupin Deguine, D, Khau Van Kien, P, Brechard, M.P, Pritchard, V, Koenig, M, Claustres, M, Vincent, M.C

“…Abstract Background Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular,…”
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Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency by Kaphan, E., Bou Ali, H., Gastaldi, M., Acquaviva, C., Vianey-Saban, C., Rouzier, C., Fragaki, K., Bannwarth, S., Paquis-Flucklinger, V., Romero, N., Behin, A., Lombès, A., Jardel, C., Rigal, O., Laforêt, P.

“…We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m.15579A>G, p.Tyr278Cys and m.15045G>A p.Arg100Gln), which…”
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein by Rouzier, C, Le Guédard-Méreuze, S, Fragaki, K, Serre, V, Miro, J, Tuffery-Giraud, S, Chaussenot, A, Bannwarth, S, Caruba, C, Ostergaard, E, Pellissier, J-F, Richelme, C, Espil, C, Chabrol, B, Paquis-Flucklinger, V

“…Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in SUCLA2, the…”
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Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome by Cano, A., Rouzier, C., Monnot, S., Chabrol, B., Conrath, J., Lecomte, P., Delobel, B., Boileau, P., Valero, R., Procaccio, V., Paquis-Flucklinger, V., Vialettes, B.

“…Mutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and…”
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Familial Wolfram syndrome by Bessahraoui, M, Paquis, V, Rouzier, C, Bouziane-Nedjadi, K, Naceur, M, Niar, S, Zennaki, A, Boudraa, G, Touhami, M

“…Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus…”
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A novel homozygous MMP2 mutation in a family with Winchester syndrome by Rouzier, C, Vanatka, R, Bannwarth, S, Philip, N, Coussement, A, Paquis-Flucklinger, V, Lambert, J-C

“…The 2001 International Classification of Constitutional Disorders of Bone has included in the group of multicentric hands and feet osteolysis syndromes three…”
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Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy by Bannwarth, S, Procaccio, V, Rouzier, C, Fragaki, K, Poole, J, Chabrol, B, Desnuelle, C, Pouget, J, Azulay, J P, Attarian, S, Pellissier, J F, Gargus, J J, Abdenur, J E, Mozaffar, T, Calvas, P, Labauge, P, Pages, M, Wallace, D C, Lambert, J C, Paquis-Flucklinger, V

“…Mutations of mitochondrial genome are responsible for respiratory chain defects in numerous patients. We have used a strategy, based on the use of a…”
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Syndrome de Wolfram familial by Bessahraoui, M., Paquis, V., Rouzier, C., Bouziane-Nedjadi, K., Naceur, M., Niar, S., Zennaki, A., Boudraa, G., Touhami, M.

“…Le syndrome de Wolfram, affection rare de transmission autosomique récessive, se caractérise par l’apparition d’un diabète sucré associé à une atrophie optique…”
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Sécrétion extra-gestationnelle de ßHCG révélatrice d’un carcinome trophoblastique épithélioïde pulmonaire primitif : l’analyse des polymorphismes génétiques permet d’incriminer le transfert maternel de cellules fœtoplacentaires 4 ans auparavant by Fénichel, P, Butori, C, Rouzier, C, Chevallier, P, Thyss, A, Poullot, A.G, Paul, C, Panaïa-Ferrari, P, Mouroux, J

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Non-juvenile familial form of malignant catecholaminergic polymorphic ventricular tachycardia caused by a novel ryanodine receptor type 2 R4608Q mutation by Bun, S., Squara, F., Scarlatti, D., Theodore, G., Rouzier, C., Probst, V., Kyndt, F., Ferrari, E.

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Ex vivo expansion of CD34 +/CD41+ late progenitors from enriched peripheral blood CD34+ cells by HALLE, P, ROUZIER, C, DEMEOCQ, F, KANOLD, J, BOIRET, N, RAPATEL, C, MAREYNAT, G, TCHIRKOV, A, BERGER, M, TRAVADE, P, BONHOMME, J

“…In our experience, patients with neuroblastoma who undergo transplantation with CD34+ cells following high-dose chemotherapy have prolonged delays in platelet…”
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A Novel MFN2 Mutation Responsible for mtDNA Instability: A Family with Optic Atrophy, Axonal Neuropathy, CNS Features and Mitochondrial Myopathy with Multiple mtDNA Deletions (S27.007) by Verschueren, A., Rouzier, C., Chabrol, B., Pellissier, J.-F., Palot, N., Pouget, J., Paquis-Flucklinger, V.

“…Abstract only…”
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P274 – 2135 Acetyl Co A deficit: first prenatal diagnosis. Biochemeical, molecular and ultrasound data in an affected fetus by Pitelet, G, Paquis, V, Trastour, C, Chami, M, Rouzier, C, Huppke, P, Giuliano, F

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Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study) by Bordet, C., Brice, S., Maupain, C., Gandjbakhch, E., Isidor, B., Palmyre, A., Moerman, A., Toutain, A., Odent, S., Brehin, A.C., Faivre, L.O., Thambo, C.R., Schaefer, E., Nguyen, K., Dupin Deguine, D., Rouzier, C., Richard, P., Tezenas Du Montcel, S., Gargiulo, M., Charron, P.

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Prescription de la scintigraphie au pyrophosphate marqué au 99m-technetium dans la pathologie amyloïde cardiaque : état des lieux dans un centre hospitalier tertiaire by Courdurie, A., Doyen, D., Richez, V., Baudouy, D., Scarlatti, D., Rouzier, C., Queyrel, V., Viau, P., Martis, N.

“…L’amylose cardiaque à transthyrétine (ATTR) est une cardiomyopathie d’évolution fatale qui relève depuis peu de traitements spécifiques. Son diagnostic est…”
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Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation by Rouzier, C., Bannwarth, S., Chaussenot, A., Chevrollier, A., Verschueren, A., Bonello-Palot, N., Fragaki, K., Cano, A., Pouget, J., Pellissier, J.-F., Procaccio, V., Chabrol, B., Paquis-Flucklinger, V.

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