Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Sudrié-Arnaud B, Marguet F, Patrier S, Martinovic J, Louillet F, Broux F, Charbonnier F, Dranguet H, Coutant S, Vezain M, Lanos R, Tebani A, Fuller M, Lamari F, Chambon P, Brehin AC, Trestard L, Tournier I, Marret S, Verspyck E, Laquerrière A, Bekri S. Sudrié-Arnaud B, et al. Among authors: vezain m. Clin Chim Acta. 2018 Jun;481:1-8. doi: 10.1016/j.cca.2018.02.023. Epub 2018 Feb 22. Clin Chim Acta. 2018. PMID: 29476731
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T. Tournier I, et al. Among authors: vezain m. Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27. Hum Mutat. 2014. PMID: 24302632 Free PMC article.
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Marguet F, Laquerrière A, Goldenberg A, Guerrot AM, Quenez O, Flahaut P, Vanhulle C, Dumant-Forest C, Charbonnier F, Vezain M, Bekri S, Tournier I, Frébourg T, Nicolas G. Marguet F, et al. Among authors: vezain m. Am J Med Genet A. 2016 May;170A(5):1317-24. doi: 10.1002/ajmg.a.37577. Epub 2016 Feb 1. Am J Med Genet A. 2016. PMID: 26833990
CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations.
Guernet A, Mungamuri SK, Cartier D, Sachidanandam R, Jayaprakash A, Adriouch S, Vezain M, Charbonnier F, Rohkin G, Coutant S, Yao S, Ainani H, Alexandre D, Tournier I, Boyer O, Aaronson SA, Anouar Y, Grumolato L. Guernet A, et al. Among authors: vezain m. Mol Cell. 2016 Aug 4;63(3):526-38. doi: 10.1016/j.molcel.2016.06.017. Epub 2016 Jul 21. Mol Cell. 2016. PMID: 27453044 Free PMC article.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. Heddar A, et al. Among authors: vezain m. Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25. Genes Chromosomes Cancer. 2017. PMID: 27636706
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: vezain m. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Baert-Desurmont S, Coutant S, Charbonnier F, Macquere P, Lecoquierre F, Schwartz M, Blanluet M, Vezain M, Lanos R, Quenez O, Bou J, Bouvignies E, Fourneaux S, Manase S, Vasseur S, Mauillon J, Gerard M, Marlin R, Bougeard G, Tinat J, Frebourg T, Tournier I. Baert-Desurmont S, et al. Among authors: vezain m. Eur J Hum Genet. 2018 Nov;26(11):1597-1602. doi: 10.1038/s41431-018-0207-2. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967336 Free PMC article.
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P. Vezain M, et al. Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5. Acta Neuropathol Commun. 2018. PMID: 30340542 Free PMC article.
24 results