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Page 1
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. 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
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.
Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L. Germanaud D, et al. Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6. Neuroimage. 2014. PMID: 25107856
SOX10 mutations mimic isolated hearing loss.
Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S. Pingault V, et al. Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25256313
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. Nasser H, et al. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. J Med Genet. 2020. PMID: 32015000 Clinical Trial.
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M. Passemard S, et al. Cortex. 2016 Jan;74:158-76. doi: 10.1016/j.cortex.2015.10.010. Epub 2015 Oct 31. Cortex. 2016. PMID: 26691732
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.
67 results