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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 3
2004 2
2005 1
2006 2
2007 3
2012 1
2013 2
2014 2
2015 1
2016 1
2018 1
2022 2
2023 0
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19 results
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Page 1
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: laudier b. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27. Clin Genet. 2022. PMID: 35170016 Free article.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J. Testard Q, et al. Among authors: laudier b. J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22. J Med Genet. 2022. PMID: 36137615
FG syndrome: the FGS2 locus revisited.
Perche O, Laudier B, Menuet A, Odent S, Laumonnier F, Briault S. Perche O, et al. Among authors: laudier b. Am J Med Genet A. 2012 Jun;158A(6):1489-92. doi: 10.1002/ajmg.a.35322. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528511 No abstract available.
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
Perche O, Haddad G, Menuet A, Callier P, Marcos M, Briault S, Laudier B. Perche O, et al. Among authors: laudier b. Am J Med Genet A. 2013 Dec;161A(12):3072-7. doi: 10.1002/ajmg.a.36170. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956198
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.
Hébert B, Pietropaolo S, Même S, Laudier B, Laugeray A, Doisne N, Quartier A, Lefeuvre S, Got L, Cahard D, Laumonnier F, Crusio WE, Pichon J, Menuet A, Perche O, Briault S. Hébert B, et al. Among authors: laudier b. Orphanet J Rare Dis. 2014 Aug 1;9:124. doi: 10.1186/s13023-014-0124-6. Orphanet J Rare Dis. 2014. PMID: 25079250 Free PMC article.
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, Le Ber I; French clinical and genetic research network on FTLD/FTLD-ALS. Clot F, et al. Among authors: laudier b. Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28. Neurogenetics. 2014. PMID: 24469240
19 results