Search Results - "Lepage, Mathis"

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature by 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

“…PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin…”
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RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis by Privat, Maud, Ponelle-Chachuat, Flora, Viala, Sandrine, Uhrhammer, Nancy, Lepage, Mathis, Cayre, Anne, Bidet, Yannick, Bignon, Yves-Jean, Gay-Bellile, Mathilde, Cavaillé, Mathias

“…Routine gene panel analysis identifies pathogenic variants in clinically relevant genes. However, variants of unknown significance (VUSs) are commonly…”
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Case Series of 11 ICDH1/I Families Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature by Lepage, Mathis, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Kossai, Myriam, Scanzi, Julien, Ouedraogo, Zangbéwendé Guy, Gay-Bellile, Mathilde, Bidet, Yannick, Cavaillé, Mathias

“…Germline pathogenic variants in E-cadherin (CDH1) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of…”
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Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition by Cavaillé, Mathias, Uhrhammer, Nancy, Privat, Maud, Ponelle‐Chachuat, Flora, Gay‐Bellile, Mathilde, Lepage, Mathis, Molnar, Ioana, Viala, Sandrine, Bidet, Yannick, Bignon, Yves‐Jean

“…Hereditary predisposition to cancer concerns between 5% and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and…”
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Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report by Ouedraogo, Zangbéwendé Guy, Janel, Caroline, Janin, Alexandre, Millat, Gilles, Langlais, Sarah, Pontier, Bénédicte, Biard, Marie, Lepage, Mathis, Francannet, Christine, Laffargue, Fanny, Creveaux, Isabelle

“…Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children's growth. Up to 552 genes, including…”
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Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer by Ouedraogo, Zangbéwendé Guy, Ceruti, Florian, Lepage, Mathis, Gay-Bellile, Mathilde, Uhrhammer, Nancy, Ponelle-Chachuat, Flora, Bidet, Yannick, Privat, Maud, Cavaillé, Mathias

“…Hereditary predisposition to cancer affects about 3-5% of renal cancers. Testing criteria have been proposed in France for genetic testing of non-syndromic…”
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Case Series of 11 CDH1 Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature by Lepage, Mathis, Uhrhammer, Nancy, Privat, Maud, Ponelle-Chachuat, Flora, Kossai, Myriam, Scanzi, Julien, Ouedraogo, Zangbéwendé Guy, Gay-Bellile, Mathilde, Bidet, Yannick, Cavaillé, Mathias

“…Germline pathogenic variants in E-cadherin (CDH1) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of…”
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Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers by Cavaillé, Mathias, Uhrhammer, Nancy, Privat, Maud, Ponelle‐Chachuat, Flora, Gay‐Bellile, Mathilde, Lepage, Mathis, Viala, Sandrine, Bidet, Yannick, Bignon, Yves‐Jean

“…High‐throughput sequencing analysis represented both a medical diagnosis and technological revolution. Gene panel analysis is now routinely performed in the…”
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Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype by Cherik, Florian, Lepage, Mathis, Remerand, Ganaelle, Francannet, Christine, Delabaere, Amélie, Salaun, Gaëlle, Pebrel-Richard, Céline, Gouas, Laetitia, Vago, Philippe, Tchirkov, Andrei, Goumy, Carole

“…The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the…”
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Syndrome microdélétionnel 10q26 : nouvelle région minimale critique et possible implication des gènes INSYN2 et NPS dans le phénotype cognitif by 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

“…Le syndrome microdélétionnel 10q26 correspond à un syndrome rare et cliniquement hétérogène. La corrélation génotype-phénotype reste aujourd’hui mal établie…”
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