Publications by authors named "Nathalie Le Meur"

14Publications

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability.

Oncogene 2004 Nov;23(53):8597-602

Institut National de la Santé et de la Recherche Médicale (INSERM) U 614 - IFRMP, Faculty of Medicine, 22 Boulevard Gambetta, 76183 Rouen Cedex, France.

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http://dx.doi.org/10.1038/sj.onc.1207845DOI Listing
November 2004