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Page 1
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: quelin c. 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.
Craniosynostosis: A rare complication of pycnodysostosis.
Osimani S, Husson I, Passemard S, Elmaleh M, Perrin L, Quelin C, Marey I, Delalande O, Filocamo M, Verloes A. Osimani S, et al. Among authors: quelin c. Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5. Eur J Med Genet. 2010. PMID: 20044043
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S. Mercier S, et al. Among authors: quelin c. J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940735 Free PMC article.
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. Quélin C, et al. Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22. Eur J Med Genet. 2012. PMID: 22226660 Free 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: quelin c. 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
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Chassaing N, et al. Among authors: quelin c. Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7. Clin Genet. 2014. PMID: 24033328
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.
Démurger F, Pasquier L, Dubourg C, Dupé V, Gicquel I, Evain C, Ratié L, Jaillard S, Beri M, Leheup B, Lespinasse J, Martin-Coignard D, Mercier S, Quelin C, Loget P, Marcorelles P, Laquerrière A, Bendavid C, Odent S, David V. Démurger F, et al. Among authors: quelin c. Mol Syndromol. 2013 Sep;4(6):267-72. doi: 10.1159/000353878. Epub 2013 Aug 1. Mol Syndromol. 2013. PMID: 24167461 Free PMC article.
70 results