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115 results

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Page 1
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: laurent n. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 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: laurent 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
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: laurent n. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Alby C, et al. Among authors: laurent n. Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166481 Free PMC article.
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N. Navarro CL, et al. Among authors: laurent n. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. doi: 10.1093/hmg/ddh265. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317753
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: laurent 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
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Gribouval O, et al. Among authors: laurent n. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. Lefebvre M, et al. Among authors: laurent n. J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19. J Med Genet. 2018. PMID: 29459493
115 results