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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Eric Pasmant , Audrey Sabbagh , Gill Spurlock , Ingrid Laurendeau , Elisa Grillo et al.
Human Mutation, 2010, 31 (6), pp.E1506-E1518. ⟨10.1002/humu.21271⟩
Journal articles istex hal-00552390v1

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Xavier Ayrignac , Clarisse Carra Dallière , Nicolas Menjot de Champfleur , Christian Denier , Patrick Aubourg et al.
Brain - A Journal of Neurology , 2015, 138 (Pt 2), pp.284-92. ⟨10.1093/brain/awu353⟩
Journal articles hal-01138578v1

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Sandrine Vuillaumier-Barrot , Céline Bouchet-Séraphin , Malika Chelbi , Louise Devisme , Samuel Quentin et al.
American Journal of Human Genetics, 2012, 91 (6), pp.1135-43. ⟨10.1016/j.ajhg.2012.10.009⟩
Journal articles hal-01120423v1

Likely effect of the 2014 Ebola epidemic on HIV care in Liberia

Paul Loubet , Guillaume Mabileau , Maima Baysah , Cecilia Nuta , Masietta Taylor et al.
AIDS. Official journal of the international AIDS Society, 2015, 29 (17), pp.2347--2351. ⟨10.1097/QAD.0000000000000821⟩
Journal articles hal-01275475v1

Mutations in SETD2 cause a novel overgrowth condition

Armelle Luscan , Ingrid Laurendeau , Valérie Malan , Christine Francannet , Sylvie Odent et al.
Journal of Medical Genetics, 2014, 51 (8), pp.512--517. ⟨10.1136/jmedgenet-2014-102402⟩
Journal articles hal-01064581v1

Mutational analysis of anal cancers demonstrates frequent PIK3CA mutations associated with poor outcome after salvage abdominoperineal resection

Wulfran Cacheux , Etienne Rouleau , Adrien Briaux , Petros Tsantoulis , Pascale Mariani et al.
British Journal of Cancer, 2016, 114 (12), pp.1387--1394. ⟨10.1038/bjc.2016.144⟩
Journal articles hal-01478384v1