Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature
Cavaillé, Mathias, Crampon, Delphine, Achim, Viorel, Bubien, Virginie, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Gay-Bellile, Mathilde, Lepage, Mathis, Ouedraogo, Zangbéwendé Guy, Jones, Natalie, Bidet, Yannick, Sevenet, Nicolas, Bignon, Yves-Jean
Published in BMC medical genomics (13.07.2023)
Published in BMC medical genomics (13.07.2023)
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Journal Article
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis
Privat, Maud, Ponelle-Chachuat, Flora, Viala, Sandrine, Uhrhammer, Nancy, Lepage, Mathis, Cayre, Anne, Bidet, Yannick, Bignon, Yves-Jean, Gay-Bellile, Mathilde, Cavaillé, Mathias
Published in Human mutation (02.04.2024)
Published in Human mutation (02.04.2024)
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Journal Article
Case Series of 11 ICDH1/I Families Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature
Lepage, Mathis, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Kossai, Myriam, Scanzi, Julien, Ouedraogo, Zangbéwendé Guy, Gay-Bellile, Mathilde, Bidet, Yannick, Cavaillé, Mathias
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition
Cavaillé, Mathias, Uhrhammer, Nancy, Privat, Maud, Ponelle‐Chachuat, Flora, Gay‐Bellile, Mathilde, Lepage, Mathis, Molnar, Ioana, Viala, Sandrine, Bidet, Yannick, Bignon, Yves‐Jean
Published in Genes chromosomes & cancer (01.02.2021)
Published in Genes chromosomes & cancer (01.02.2021)
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Journal Article
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report
Ouedraogo, Zangbéwendé Guy, Janel, Caroline, Janin, Alexandre, Millat, Gilles, Langlais, Sarah, Pontier, Bénédicte, Biard, Marie, Lepage, Mathis, Francannet, Christine, Laffargue, Fanny, Creveaux, Isabelle
Published in Genes (01.02.2024)
Published in Genes (01.02.2024)
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Journal Article
Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer
Ouedraogo, Zangbéwendé Guy, Ceruti, Florian, Lepage, Mathis, Gay-Bellile, Mathilde, Uhrhammer, Nancy, Ponelle-Chachuat, Flora, Bidet, Yannick, Privat, Maud, Cavaillé, Mathias
Published in Genes (25.10.2023)
Published in Genes (25.10.2023)
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Journal Article
Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature
Lepage, Mathis, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Kossai, Myriam, Scanzi, Julien, Ouedraogo, Zangbéwendé Guy, Gay-Bellile, Mathilde, Bidet, Yannick, Cavaillé, Mathias
Published in Genes (25.08.2023)
Published in Genes (25.08.2023)
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Journal Article
Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers
Cavaillé, Mathias, Uhrhammer, Nancy, Privat, Maud, Ponelle‐Chachuat, Flora, Gay‐Bellile, Mathilde, Lepage, Mathis, Viala, Sandrine, Bidet, Yannick, Bignon, Yves‐Jean
Published in Clinical genetics (01.01.2021)
Published in Clinical genetics (01.01.2021)
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Journal Article
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole
Published in European journal of medical genetics (01.09.2021)
Published in European journal of medical genetics (01.09.2021)
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Journal Article
Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPS dans le phénotype cognitif
Goumy, Carole, Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaelle, Pebrel-Richard, Céline, Gouas, Laetitia, Eymard-Pierre, Eleonore, Vago, Philippe, Tchirkov, Andrei
Published in Morphologie (01.09.2021)
Published in Morphologie (01.09.2021)
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Journal Article