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Page 1
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Among authors: bigi n. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T. Legendre M, et al. Among authors: bigi n. J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28. J Med Genet. 2012. PMID: 23024289
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J. Gatinois V, et al. Among authors: bigi n. Mol Genet Genomic Med. 2019 Nov;7(11):e00895. doi: 10.1002/mgg3.895. Epub 2019 Sep 7. Mol Genet Genomic Med. 2019. PMID: 31493343 Free PMC article.
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: bigi n. Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9. Brain. 2012. PMID: 22323514
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marçais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quélin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Lefebvre M, et al. Among authors: bigi n. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732226
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: bigi n. Hum Mutat. 2007 Oct;28(10):1020-7. doi: 10.1002/humu.20561. Hum Mutat. 2007. PMID: 17559086
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Perez MJ, Schneider A, Chaze AM, Bigi N, Lefort G, Rouleau C, Faure JM, Rahil H, Wadih N, Couture A, Boulot P, Blanchet P, Sarda P, Geneviève D. Perez MJ, et al. Among authors: bigi n. Prenat Diagn. 2009 Nov;29(11):1085-8. doi: 10.1002/pd.2350. Prenat Diagn. 2009. PMID: 19777540 No abstract available.
Prevalence and timing of pregnancy termination for brain malformations.
Rouleau C, Gasner A, Bigi N, Couture A, Perez MJ, Blanchet P, Faure JM, Rivier F, Boulot P, Laquerrière A, Encha-Razavi F. Rouleau C, et al. Among authors: bigi n. Arch Dis Child Fetal Neonatal Ed. 2011 Sep;96(5):F360-4. doi: 10.1136/adc.2010.201483. Epub 2011 Jan 19. Arch Dis Child Fetal Neonatal Ed. 2011. PMID: 21252198
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C. Lefebvre M, et al. Among authors: bigi n. Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30. Prenat Diagn. 2015. PMID: 25754886
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Bergougnoux A, Rivals I, Liquori A, Raynal C, Varilh J, Magalhães M, Perez MJ, Bigi N, Des Georges M, Chiron R, Squalli-Houssaini AS, Claustres M, De Sario A. Bergougnoux A, et al. Among authors: bigi n. Epigenetics. 2014 Jul;9(7):1007-17. doi: 10.4161/epi.28967. Epub 2014 Apr 29. Epigenetics. 2014. PMID: 24782114 Free PMC article.
23 results