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Deposit type : Notice

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy , Estelle Escudier , Laetitia Vincensini , Judy Freshour , Anne-Marie Bridoux , et al.
American Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩
Journal articles inserm-03894697v1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Soumaya Mougou-Zerelli , Sophie Thomas , Emmanuelle Szenker , Sophie Audollent , Nadia Elkhartoufi , et al.
Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles inserm-00420359v1

Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation-Case Report

Zeynep Şıklar , Merih Berberoğlu , Maria Legendre , Serge Amselem , Olcay Evliyaoğlu
Journal of Clinical Research in Pediatric Endocrinology, 2010, 2 (4), pp.164-167. ⟨10.4274/jcrpe.v2i4.164⟩
Journal articles inserm-03894227v1

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

Jacques Pantel , Marie Legendre , Sylvie Nivot , Séverine Morisset , Marie Vie-Luton , et al.
Journal of Clinical Endocrinology and Metabolism, 2009, 94 (11), pp.4334-4341. ⟨10.1210/jc.2009-1327⟩
Journal articles hal-02081574v1

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

Isabelle Jéru , Gaëlle Le Borgne , Emmanuelle Cochet , Hasmik Hayrapetyan , Philippe Duquesnoy , et al.
Arthritis & rheumatology, 2011, 63 (5), pp.1459-1464. ⟨10.1002/art.30241⟩
Journal articles inserm-03889764v1

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood

Yardena Tenenbaum-Rakover , Marie-Laure Sobrier , Serge Amselem
Clinical Endocrinology, 2011, 75 (2), pp.214-219. ⟨10.1111/j.1365-2265.2011.04028.x⟩
Journal articles istex inserm-03894099v1

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne-Christine Merveille , Erica Davis , Anita Becker-Heck , Marie Legendre , Israel Amirav , et al.
Nature Genetics, 2011, 43 (1), pp.72-78. ⟨10.1038/ng.726⟩
Journal articles inserm-03894583v1

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder

Isabelle Jéru , Sandrine Marlin , Gaëlle Le Borgne , Emmanuelle Cochet , Sylvain Normand , et al.
Arthritis and Rheumatism, 2010, 62 (4), pp.1176-1185. ⟨10.1002/art.27326⟩
Journal articles inserm-03894647v1

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy

Isabelle Jéru , Véronique Hentgen , Sylvain Normand , Philippe Duquesnoy , Emmanuelle Cochet , et al.
Arthritis & rheumatology, 2011, 63 (7), pp.2142-2148. ⟨10.1002/art.30378⟩
Journal articles inserm-03894153v1

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Catherine Costa , Virginie Prulière-Escabasse , Alix de Becdelièvre , Christine Gameiro , Lisa Golmard , et al.
Journal of Cystic Fibrosis, 2011, 10 (6), pp.479-482. ⟨10.1016/j.jcf.2011.06.011⟩
Journal articles hal-02446238v1