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Page 1
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: delezoide al. Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9. Brain. 2012. PMID: 22323514
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A. Adle-Biassette H, et al. Among authors: delezoide al. Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3. Acta Neuropathol. 2013. PMID: 23820807
Unusual variant of holoprosencephaly in monosomy 13q.
Marcorelles P, Loget P, Fallet-Bianco C, Roume J, Encha-Razavi F, Delezoide AL. Marcorelles P, et al. Among authors: delezoide al. Pediatr Dev Pathol. 2002 Mar-Apr;5(2):170-8. doi: 10.1007/s10024001-0200-5. Pediatr Dev Pathol. 2002. PMID: 11910512
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: delezoide al. 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
Fetal phenotype associated with the 22q11 deletion.
Noël AC, Pelluard F, Delezoide AL, Devisme L, Loeuillet L, Leroy B, Martin A, Bouvier R, Laquerriere A, Jeanne-Pasquier C, Bessieres-Grattagliano B, Mechler C, Alanio E, Leroy C, Gaillard D. Noël AC, et al. Among authors: delezoide al. Am J Med Genet A. 2014 Nov;164A(11):2724-31. doi: 10.1002/ajmg.a.36720. Epub 2014 Aug 8. Am J Med Genet A. 2014. PMID: 25111715
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: delezoide al. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S. Duval H, et al. Among authors: delezoide al. Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6. Prenat Diagn. 2016. PMID: 27297286 Free article.
Cytomegalovirus-induced brain malformations in fetuses.
Teissier N, Fallet-Bianco C, Delezoide AL, Laquerrière A, Marcorelles P, Khung-Savatovsky S, Nardelli J, Cipriani S, Csaba Z, Picone O, Golden JA, Van Den Abbeele T, Gressens P, Adle-Biassette H. Teissier N, et al. Among authors: delezoide al. J Neuropathol Exp Neurol. 2014 Feb;73(2):143-58. doi: 10.1097/NEN.0000000000000038. J Neuropathol Exp Neurol. 2014. PMID: 24423639
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
Guimiot F, Marcorelles P, Aboura A, Bonyhay G, Patrier S, Menez F, Drouin-Garraud V, Icowick V, Eurin D, Garel C, Moirot H, Verspyck E, Saugier-Veber P, Attie-Bitach T, Picone O, Oury JF, Verloes A, Delezoide AL, Laquerrière A. Guimiot F, et al. Among authors: delezoide al. Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859. Am J Med Genet A. 2009. PMID: 19449422
215 results