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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Marc Engelen , Stephan Kemp , Marianne de Visser , Björn van Geel , Ronald Wanders , et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.51. ⟨10.1186/1750-1172-7-51⟩
Journal articles inserm-00755770v1

Altered emotional and locomotor responses in mice deficient in the transcription factor CREM

Rafael Maldonado , Claire Smadja , Cristina Mazucchelli , Paolo Sassone-Corsi
Proceedings of the National Academy of Sciences of the United States of America, 1999, 96 (24), pp.14094-14099. ⟨10.1073/pnas.96.24.14094⟩
Journal articles hal-03989766v1
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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis

Eric Pasmant , Philippe Goussard , Laetitia Baranes , Ingrid Laurendeau , Samuel Quentin , et al.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.186⟩
Journal articles hal-00685384v1

Rett networked database: An integrated clinical and genetic network of rett syndrome databases

Elisa Grillo , Laurent Villard , Angus Clarke , Bruria Ben Zeev , Mercedes Pineda , et al.
Human Mutation, 2012, 33 (7), pp.1031 - 1036. ⟨10.1002/humu.22072⟩
Journal articles hal-01668676v1

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
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UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Pauline Romanet , Amira Mohamed , Sophie Giraud , Marie-Françoise Odou , Marie-Odile North , et al.
Journal of Clinical Endocrinology and Metabolism, 2019, 104 (3), pp.753-764. ⟨10.1210/jc.2018-01170⟩
Journal articles hal-01975538v1
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A Heterozygous Mutation Disrupting the SPAG16 Gene Results in Biochemical Instability of Central Apparatus Components of the Human Sperm Axoneme1

Zhibing Zhang , Maimoona A Zariwala , Maha M Mahadevan , Pedro Caballero-Campo , Xuening Shen , et al.
Biology of Reproduction, 2007, 77 (5), pp.864-871. ⟨10.1095/biolreprod.107.063206⟩
Journal articles inserm-04145216v1