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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. Izumi K, et al. Among authors: passemard s. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. Am J Hum Genet. 2016. PMID: 27476655 Free PMC article.
Autosomal recessive primary microcephalies (MCPH).
Kaindl AM, Passemard S, Gressens P. Kaindl AM, et al. Among authors: passemard s. Eur J Paediatr Neurol. 2009 Sep;13(5):458. doi: 10.1016/j.ejpn.2008.07.010. Epub 2008 Sep 5. Eur J Paediatr Neurol. 2009. PMID: 18774316 No abstract available.
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. 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: passemard s. 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.
Craniosynostosis: A rare complication of pycnodysostosis.
Osimani S, Husson I, Passemard S, Elmaleh M, Perrin L, Quelin C, Marey I, Delalande O, Filocamo M, Verloes A. Osimani S, et al. Among authors: passemard s. Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5. Eur J Med Genet. 2010. PMID: 20044043
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: passemard s. 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: passemard s. 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: passemard s. Fetal Pediatr Pathol. 2011;30(1):22-6. doi: 10.3109/15513815.2010.494698. Fetal Pediatr Pathol. 2011. PMID: 21204662
88 results