Search Results - "Vaury, Christelle"

Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR by Suraweera, Nirosha, Duval, Alex, Reperant, Maryline, Vaury, Christelle, Furlan, Daniela, Leroy, Karen, Seruca, Raquel, Iacopetta, Barry, Hamelin, Richard

“…Background & Aims: The microsatellite instability (MSI) phenotype is a characteristic of the hereditary nonpolyposis colorectal cancer syndrome as well as…”
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Identification of homozygous deletions at chromosome 16q23 in Aflatoxin B1 exposed hepatocellular carcinoma by CENGIZ YAKICIER, M, LEGOIX, Patricia, VAURY, Christelle, GRESSIN, Laetitia, TUBACHER, Emmanuel, CAPRON, Frederique, BAYER, Jan, DEGOTT, Claude, BALABAUD, Charles, ZUCMAN-ROSSI, Jessica

“…Loss of heterozygosity (LOH) represents the most frequent genetic alteration observed in hepatocellular carcinoma (HCC). Chromosome 16q is of particular…”
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Clinical and Molecular Characterization of a Cohort of 161 Unrelated Women with Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and 330 Family Members by Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Tardy, Véronique, Billaud, Line, Laborde, Kathleen, Coussieu, Christiane, Morel, Yves, Vaury, Christelle, Golmard, Jean-Louis, Claustre, Aurélie, Mornet, Etienne, Chakhtoura, Zeina, Mowszowicz, Irene, Bachelot, Anne, Touraine, Philippe, Kuttenn, Frédérique

“…Context: Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-hydroxylase deficiency is one of the most frequent autosomal recessive…”
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ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism by Bellanné-Chantelot, C, Saint-Martin, C, Ribeiro, M-J, Vaury, C, Verkarre, V, Arnoux, J-B, Valayannopoulos, V, Gobrecht, S, Sempoux, C, Rahier, J, Fournet, J-C, Jaubert, F, Aigrain, Y, Nihoul-Fékété, C, de Lonlay, P

“…Congenital hyperinsulinism (CHI) is characterised by an over secretion of insulin by the pancreatic β-cells. This condition is mostly caused by mutations in…”
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Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register by Bellanné-Chantelot, Christine, Clauin, Séverine, Leblanc, Thierry, Cassinat, Bruno, Rodrigues-Lima, Fernando, Beaufils, Sandrine, Vaury, Christelle, Barkaoui, Mohamed, Fenneteau, Odile, Maier-Redelsperger, Micheline, Chomienne, Christine, Donadieu, Jean

“…Heterozygous mutations of the gene encoding neutrophil elastase (ELA2) have been associated with cyclic neutropenia (CN) and severe congenital neutropenia…”
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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism by Saint-Martin, C., Zhou, Q., Martin, G.M., Vaury, C., Leroy, G., Arnoux, J.-B., de Lonlay, P., Shyng, S.-L., Bellanné-Chantelot, C.

“…ABCC8 encodes a subunit of the β‐cell potassium channel (KATP) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two…”
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Exonic Duplication of the Hepatocyte Nuclear Factor-1{szligbeta} Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5 by Carette, Claire, Vaury, Christelle, Barthelemy, Anne, Clauin, Severine, Gruenfeld, Jean-Pierre, Timsit, Jose, Bellanne-Chantelot, Christine

“…CONTEXT: Maturity onset diabetes of the young (MODY) type 5 has been described as the association of early-onset diabetes and renal disease. Actually, MODY5…”
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Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5 by Carette, Claire, Vaury, Christelle, Barthélémy, Anne, Clauin, Séverine, Grünfeld, Jean-Pierre, Timsit, José, Bellanné-Chantelot, Christine

“…Maturity onset diabetes of the young (MODY) type 5 has been described as the association of early-onset diabetes and renal disease. Actually, MODY5 encompasses…”
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Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5 by Carette, Claire, Vaury, Christelle, Barthélémy, Anne, Clauin, Séverine, Grünfeld, Jean-Pierre, Timsit, José, Bellanné-Chantelot, Christine

“…Context: Maturity onset diabetes of the young (MODY) type 5 has been described as the association of early-onset diabetes and renal disease. Actually, MODY5…”
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Decreasing the effects of horizontal gene transfer on bacterial phylogeny: the Escherichia coli case study by Escobar-Páramo, Patricia, Sabbagh, Audrey, Darlu, Pierre, Pradillon, Olivier, Vaury, Christelle, Denamur, Erick, Lecointre, Guillaume

“…Phylogenetic reconstructions of bacterial species from DNA sequences are hampered by the existence of horizontal gene transfer. One possible way to overcome…”
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Lack of somatic mutation in the coding sequence of SIAH1 in tumors hemizygous for this candidate tumor suppressor gene by Medhioub, Monia, Vaury, Christelle, Hamelin, Richard, Thomas, Gilles

“…The human homolog of the Drosophila seven in absentia gene (SIAH1) may play an important role in apoptosis and tumor suppression. Transcription of SIAH1 is…”
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Lack of somatic mutation in the coding sequence of SIAH1 in tumors hemizygous for this candidate tumor suppressor gene by MEDHIOUB, Monia, VAURY, Christelle, HAMELIN, Richard, THOMAS, Gilles

“…The human homolog of the Drosophila seven in absentia gene (SIAH1) may play an important role in apoptosis and tumor suppression. Transcription of SIAH1 is…”
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Lack of somatic mutation in the coding sequence ofSIAH1 in tumors hemizygous for this candidate tumor suppressor gene by Medhioub, Monia, Vaury, Christelle, Hamelin, Richard, Thomas, Gilles

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Polymorphism of genes encoding SOS polymerases in natural populations of Escherichia coli by Bjedov, Ivana, Lecointre, Guillaume, Tenaillon, Olivier, Vaury, Christelle, Radman, Miroslav, Taddei, François, Denamur, Erick, Matic, Ivan

“…High fidelity replicative DNA polymerases can be blocked during DNA replication by various base damages, which represents a potentially lethal event…”
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Human glutathione S-transferase M1 null genotype is associated with a high inducibility of cytochrome P450 1A1 gene transcription by VAURY, C, LAINE, R, NOGUIEZ, P, DE COPPET, P, JAULIN, C, PRAZ, F, POMPON, D, AMOR-GUERET, M

“…We investigated the transcriptional regulation of cytochrome P450 1A1 (CYP1A1) gene in human lymphoblastoid B cells and report that a high inducibility of…”
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Nucleotide structure of the Scytalidium hyalinum and Scytalidium dimidiatum 18S subunit ribosomal RNA gene: evidence for the insertion of a group IE intron in the rDNA gene of S. dimidiatum by Machouart-Dubach, Marie, Lacroix, Claire, Vaury, Christelle, Feuilhade de Chauvin, Martine, Bellanné, Christine, Derouin, Francis, Lorenzo, Frédéric

“…The molds Scytalidium dimidiatum ( Nattrassia mangiferae synanamorph) and Scytalidium hyalinum are responsible for dermatomycosis in humans. We sequenced their…”
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Characterization of a new BLM mutation associated with a topoisomerase IIα defect in a patient with Bloom's syndrome by FOUCAULT, F, VAURY, C, BARAKAT, A, THIBOUT, D, PLANCHON, P, JAULIN, C, PRAZ, F, AMOR-GUERET, M

“…Bloom's syndrome (BS), a human recessive disorder associated with an increased risk of malignancy, arises through mutations in both alleles of the BLM gene,…”
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Nucleotide structure of the Scytalidium hyalinum and Scytalidium dimidiatum 18S subunit ribosomal RNA gene: evidence for the insertion of a group IE intron in the rDNA gene of S. dimidiatum by Machouart-Dubach, Marie, Lacroix, Claire, Vaury, Christelle, Feuilhade de Chauvin, Martine, Bellanné, Christine, Derouin, Francis, Lorenzo, Frédéric

“…Abstract The molds Scytalidium dimidiatum (Nattrassia mangiferae synanamorph) and Scytalidium hyalinum are responsible for dermatomycosis in humans. We…”
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Characterization of a New BLM Mutation Associated with a Topoisomerase Ilα Defect in a Patient with Bloom's Syndrome by Foucault, Frédéric, Vaury, Christelle, Barakat, Abdelhamid, Thibout, Déborah, Planchon, Philippe, Jaulin, Christian, Praz, Françoise, Amor-Guéret, Mounira

“…Bloom's syndrome (BS), a human recessive disorder associated with an increased risk of malignancy, arises through mutations in both alleles of the BLM gene,…”
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