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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Among authors: passemard s. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC 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. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. Neurology. 2009. PMID: 19770472
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
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
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: passemard s. 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.
[Diagnostic investigations for an unexplained developmental disability].
Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience. Verloes A, et al. Among authors: passemard s. Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub 2012 Jan 14. Arch Pediatr. 2012. PMID: 22245660 French.
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, Edwards D, Bernard V, Dournaud P, Drunat S, Vermelle-Andrzejewski M, Vilain C, Abramowicz M, Désir J, Bonaventure J, Gareil N, Boncompain G, Csaba Z, Perez F, Passemard S, Gressens P, El Ghouzzi V. Dupuis N, et al. Among authors: passemard s. Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652408 Free article.
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H. Scheidecker S, et al. Among authors: passemard s. Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817018 Free PMC article.
88 results