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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: delahaye a. Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7. Clin Genet. 2014. PMID: 24033328
What can we learn from old microdeletion syndromes using array-CGH screening?
Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M. Mosca-Boidron AL, et al. Among authors: delahaye a. Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26. Clin Genet. 2012. PMID: 21722100
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, Tabet AC, Amselem S, Elion J, Gressens P, Pipiras E, Benzacken B. Delahaye A, et al. Eur J Hum Genet. 2012 May;20(5):527-33. doi: 10.1038/ejhg.2011.233. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234157 Free PMC article.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A. El Khattabi L, et al. Among authors: delahaye a. Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351778 Free PMC article.
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Jaillard S, Drunat S, Bendavid C, Aboura A, Etcheverry A, Journel H, Delahaye A, Pasquier L, Bonneau D, Toutain A, Burglen L, Guichet A, Pipiras E, Gilbert-Dussardier B, Benzacken B, Martin-Coignard D, Henry C, David A, Lucas J, Mosser J, David V, Odent S, Verloes A, Dubourg C. Jaillard S, et al. Among authors: delahaye a. Eur J Med Genet. 2010 Mar-Apr;53(2):66-75. doi: 10.1016/j.ejmg.2009.10.002. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878743 Free article.
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E. Jaillard S, et al. Among authors: delahaye a. J Med Genet. 2009 Dec;46(12):847-55. doi: 10.1136/jmg.2008.058156. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812405 Free PMC article.
Mutations in the C-terminus of CDKL5: proceed with caution.
Diebold B, Delépine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T. Diebold B, et al. Among authors: delahaye a. Eur J Hum Genet. 2014 Feb;22(2):270-2. doi: 10.1038/ejhg.2013.133. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756444 Free PMC article.
106 results