Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mathis Lepage"'
Autor:
Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbéwendé Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bignon
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous fe
Externí odkaz:
https://doaj.org/article/cf9a68b4bb1a4d1e8d2632502c8d8766
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition
Autor:
Maud Privat, Mathis Lepage, Yves-Jean Bignon, Ioana Molnar, Sandrine Viala, Flora Ponelle-Chachuat, Mathias Cavaillé, Mathilde Gay-Bellile, Nancy Uhrhammer, Yannick Bidet
Publikováno v:
Genes, Chromosomes & Cancer
Genes, Chromosomes and Cancer
Genes, Chromosomes and Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩
Genes, Chromosomes & Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩
Genes, Chromosomes and Cancer
Genes, Chromosomes and Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩
Genes, Chromosomes & Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩
Hereditary predisposition to cancer concerns between 5 and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and ovarian cancer syndrome, hereditary non-polyposis colorectal cancer syndrome) were identified in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2c49dc5faa46c5e9a2a904aec7ef6c
http://europepmc.org/articles/PMC7756731
http://europepmc.org/articles/PMC7756731
Autor:
Nancy Uhrhammer, Mathilde Gay-Bellile, Mathis Lepage, Sandrine Viala, Yves-Jean Bignon, Flora Ponelle-Chachuat, Yannick Bidet, Mathias Cavaillé, Maud Privat
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13864⟩
Clinical Genetics, Wiley, 2020, ⟨10.1111/cge.13864⟩
High-throughput sequencing analysis represented both a medical diagnosis and technological revolution. Gene panel analysis is now routinely performed in the exploration of hereditary predisposition to cancer, which is becoming increasingly heterogene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd167ea74134e82986cbcd4d378c608b
https://hal.archives-ouvertes.fr/hal-02992976
https://hal.archives-ouvertes.fr/hal-02992976
Autor:
null Mathias Cavaillé, null Nancy Uhrhammer, null Maud Privat, null Flora Ponelle‐Chachuat, null Mathilde Gay‐Bellile, null Mathis Lepage, null Sandrine Viala, null Yannick Bidet, null Yves‐Jean Bignon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338f3d64ff911fc657c6dddca65cb7a0
https://doi.org/10.1111/cge.13864/v2/response1
https://doi.org/10.1111/cge.13864/v2/response1
Autor:
Christine Francannet, Céline Pebrel-Richard, Amélie Delabaere, Laetitia Gouas, Mathis Lepage, Andrei Tchirkov, Florian Cherik, Philippe Vago, Ganaelle Remerand, Carole Goumy, Gaelle Salaun
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2021, 64 (9), pp.104287. ⟨10.1016/j.ejmg.2021.104287⟩
European Journal of Medical Genetics, Elsevier, 2021, 64 (9), pp.104287. ⟨10.1016/j.ejmg.2021.104287⟩
Background The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear. Case presentation We report two new cases of 860 kb deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df479f0b5bae2ceaf6cf008dae345c0
https://doi.org/10.1016/j.ejmg.2021.104287
https://doi.org/10.1016/j.ejmg.2021.104287
Autor:
Eleonore Eymard-Pierre, Christine Francannet, Philippe Vago, Ganaelle Remerand, Céline Pebrel-Richard, Laetitia Gouas, Andrei Tchirkov, Gaelle Salaun, Amélie Delabaere, Carole Goumy, Florian Cherik, Mathis Lepage
Publikováno v:
Morphologie. 105:S19
Le syndrome microdeletionnel 10q26 correspond a un syndrome rare et cliniquement heterogene. La correlation genotype-phenotype reste aujourd’hui mal etablie. Nous rapportons deux nouvelles personnes (un garcon de 22 mois et sa mere) presentant une
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db5d8514bae60ea1102eb3a7f11a966
https://doi.org/10.1016/j.morpho.2021.05.038
https://doi.org/10.1016/j.morpho.2021.05.038