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Page 1
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M. Lecoquierre F, et al. Among authors: patrier s. Hum Mutat. 2020 May;41(5):926-933. doi: 10.1002/humu.23998. Epub 2020 Mar 1. Hum Mutat. 2020. PMID: 32058622
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A. Saugier-Veber P, et al. Among authors: patrier s. Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. Acta Neuropathol Commun. 2017. PMID: 28460636 Free PMC article.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: patrier s. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
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: patrier s. 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
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerrière A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attié-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F. Devisme L, et al. Among authors: patrier s. Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9. Brain. 2012. PMID: 22323514
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N. Bouchet C, et al. Among authors: patrier s. Hum Mutat. 2007 Oct;28(10):1020-7. doi: 10.1002/humu.20561. Hum Mutat. 2007. PMID: 17559086
p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 cases.
Gaillot-Durand L, Patrier S, Aziza J, Devisme L, Riera AC, Marcorelles P, Pelluard F, Gasser B, Mauduit C, Hajri T, Massardier J, Bolze PA, Golfier F, Devouassoux-Shisheboran M, Allias F. Gaillot-Durand L, et al. Among authors: patrier s. Hum Pathol. 2020 Jul;101:18-30. doi: 10.1016/j.humpath.2020.04.011. Epub 2020 May 6. Hum Pathol. 2020. PMID: 32387104
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Billon C, et al. Among authors: patrier s. Clin Genet. 2020 Sep;98(3):261-273. doi: 10.1111/cge.13801. Epub 2020 Aug 4. Clin Genet. 2020. PMID: 32621347
53 results