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Epidemiology of achondroplasia: A population-based study in Europe.
Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I. Coi A, et al. Among authors: alessandri jl. Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294928
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Alessandri JL, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. Am J Med Genet A. 2008. PMID: 18780370 Review.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: alessandri jl. J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173. J Med Genet. 2012. PMID: 23188108
Antenatal presentation of hereditary lymphedema type I.
Boudon E, Levy Y, Abossolo T, Cartault F, Brouillard P, Vikkula M, Kieffer-Traversier M, Ramful D, Alessandri JL. Boudon E, et al. Among authors: alessandri jl. Eur J Med Genet. 2015 Jun-Jul;58(6-7):329-31. doi: 10.1016/j.ejmg.2015.03.006. Epub 2015 Apr 18. Eur J Med Genet. 2015. PMID: 25896638
Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry.
Bourdial H, Jamal-Bey K, Edmar A, Caillet D, Wuillai F, Bernede-Bauduin C, Boumahni B, Robillard PY, Kauffmann E, Laffitte A, Touret Y, Cuillier F, Fourmaintraux A, Alessandri JL, Gérardin P, Randrianaivo H. Bourdial H, et al. Among authors: alessandri jl. Cardiol Young. 2012 Oct;22(5):547-57. doi: 10.1017/S1047951112000054. Epub 2012 Feb 13. Cardiol Young. 2012. PMID: 22325463
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: alessandri jl. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.
88 results