Search Results - Rittore, Cécile

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  1. 1
    Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

    Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation by Boursier, Guilaine, Rittore, Cécile, Milhavet, Florian, Cuisset, Laurence, Touitou, Isabelle

    Published 2021
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  2. 2
    Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?

    Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes? by Pallares-Ruiz, Nathalie, Philibert, Laurent, Dumont, Bruno, Fabre, Aurélie, Cuisset, Laurence, Cointin, Elodie, Rittore, Cécile, Soler, Stéphan, Touitou, Isabelle

    Published 2010
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  3. 3
    Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA‐like phenotype

    Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA‐like phenotype by Grandemange, Sylvie, Cabasson, Sébastien, Sarrabay, Guillaume, Pène, Jérôme, Rittore, Cécile, Sanchez, Elodie, Chastang, Marie‐Caroline, Guyon, Gaël, Pillet, Pascal, Touitou, Isabelle

    Published 2017
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  4. 4
    Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases

    Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases by Boursier, Guilaine, Rittore, Cécile, Georgin-Lavialle, Sophie, Belot, Alexandre, Galeotti, Caroline, Hachulla, Eric, Hentgen, Véronique, Rossi-Semerano, Linda, Sarrabay, Guillaume, Touitou, Isabelle

    Published 2019
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  5. 5
    Genetic markers in clinical subtypes of juvenile idiopathic arthritis

    Genetic markers in clinical subtypes of juvenile idiopathic arthritis by Le Blay, Pierre, Ludwig, Catherine, Rittore, Cécile, Soler, Stéphane, Tejedor, Gabriel, Daïen, Vincent, Molinari, Nicolas, Pers, Yves-Marie, Cohen, Jean-David, Rodiere, Michel, Jorgensen, Christian, Touitou, Isabelle

    Published 2011
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  6. 6
    Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies

    Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies by Cozette, Claire, Scheffler, Florence, Lombart, Melyne, Massardier, Jerome, Bolze, Pierre-Adrien, Hajri, Touria, Golfier, Francois, Touitou, Isabelle, Rittore, Cecile, Gondry, Jean, Merviel, Philippe, Benkhalifa, Moncef, Cabry, Rosalie

    Published 2020
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  7. 7
    TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS

    TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS by Rittore, Cécile, Méchin, Déborah, Sanchez, Elodie, Marinèche, Léa, Ea, Vuthy, Soler, Stephan, Vereecke, Marion, Mallavialle, Aude, Richard, Eric, Duroux-Richard, Isabelle, Apparailly, Florence, Touitou, Isabelle, Grandemange, Sylvie

    Published 2021
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  8. 8
    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

    Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte by Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.

    Published 2011
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