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Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E. Delahaye A, et al. Among authors: gressens p. Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903608
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: gressens p. Prenat Diagn. 2007 Mar;27(3):279-84. doi: 10.1002/pd.1639. Prenat Diagn. 2007. PMID: 17269127
[Genetic and clinical aspects of lissencephaly].
Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P. Verloes A, et al. Among authors: gressens p. Rev Neurol (Paris). 2007 May;163(5):533-47. doi: 10.1016/s0035-3787(07)90460-9. Rev Neurol (Paris). 2007. PMID: 17571022 Review. French.
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Passemard S, et al. Among authors: gressens p. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Inner ear lesions in congenital cytomegalovirus infection of human fetuses.
Teissier N, Delezoide AL, Mas AE, Khung-Savatovsky S, Bessières B, Nardelli J, Vauloup-Fellous C, Picone O, Houhou N, Oury JF, Van Den Abbeele T, Gressens P, Adle-Biassette H. Teissier N, et al. Among authors: gressens p. Acta Neuropathol. 2011 Dec;122(6):763-74. doi: 10.1007/s00401-011-0895-y. Epub 2011 Oct 28. Acta Neuropathol. 2011. PMID: 22033878
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. Among authors: gressens p. 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.
496 results