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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: pipiras e. 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.
Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report.
Malan V, Pipiras E, Sifer C, Kanafani S, Cedrin-Durnerin I, Martin-Pont B, Hugues JN, Wolf JP, Benzacken B. Malan V, et al. Among authors: pipiras e. Hum Reprod. 2006 Aug;21(8):2052-6. doi: 10.1093/humrep/del090. Epub 2006 Apr 3. Hum Reprod. 2006. PMID: 16585123
Retrospective diagnosis of Pallister-Killian syndrome by CGH array.
Delahaye A, Pipiras E, Delorme-Vincent C, Benkhalifa M, Kasakyan S, Devisme L, Wolf JP, Benzacken B. Delahaye A, et al. Among authors: pipiras e. Fetal Diagn Ther. 2006;21(6):485-8. doi: 10.1159/000095658. Epub 2006 Sep 12. Fetal Diagn Ther. 2006. PMID: 16969000
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype.
Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largillière C, Garel C, Gressens P, Bucourt M, Cedrin-Durnerin I, Lachassinne E, Roumegoux C, Uzan M, Hugues JN, Wolf JP, Benzacken B. Kanafani S, et al. Among authors: pipiras e. Prenat Diagn. 2007 Mar;27(3):279-84. doi: 10.1002/pd.1639. Prenat Diagn. 2007. PMID: 17269127
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: pipiras e. 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.
47 results