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Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Among authors: verloes a. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
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: verloes a. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
Many roads lead to primary autosomal recessive microcephaly.
Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Kaindl AM, et al. Among authors: verloes a. Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Epub 2009 Dec 2. Prog Neurobiol. 2010. PMID: 19931588 Review.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Schiff M, et al. Among authors: verloes a. Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3. Eur J Med Genet. 2010. PMID: 20599530
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. Nicholas AK, et al. Among authors: verloes a. Nat Genet. 2010 Nov;42(11):1010-4. doi: 10.1038/ng.682. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890279 Free PMC article.
Aphallia, lung agenesis and multiple defects of blastogenesis.
Gérard-Blanluet M, Lambert V, Khung-Savatovsky S, Perrin-Sabourin L, Passemard S, Baumann C, Delezoide AL, Verloes A. Gérard-Blanluet M, et al. Among authors: verloes a. Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698. Fetal Pediatr Pathol. 2011. PMID: 21204662
A familial syndromal form of omphalocele.
Port-Lis M, Leroy C, Manouvrier S, Escande F, Passemard S, Perrin L, Capri Y, Gérard B, Verloes A. Port-Lis M, et al. Among authors: verloes a. Eur J Med Genet. 2011 May-Jun;54(3):337-40. doi: 10.1016/j.ejmg.2011.02.001. Epub 2011 Feb 17. Eur J Med Genet. 2011. PMID: 21333766
503 results