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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.
Lévy J, Haye D, Marziliano N, Casu G, Guimiot F, Dupont C, Teissier N, Benzacken B, Gressens P, Pipiras E, Verloes A, Tabet AC. Lévy J, et al. Among authors: pipiras e. Clin Genet. 2018 Jun;93(6):1141-1147. doi: 10.1111/cge.13234. Epub 2018 Mar 15. Clin Genet. 2018. PMID: 29508392
Structural chromosomal mosaicism and prenatal diagnosis.
Pipiras E, Dupont C, Chantot-Bastaraud S, Siffroi JP, Bucourt M, Batallan A, Largillière C, Uzan M, Wolf JP, Benzacken B. Pipiras E, et al. Prenat Diagn. 2004 Feb;24(2):101-3. doi: 10.1002/pd.797. Prenat Diagn. 2004. PMID: 14974115
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.
46 results