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Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri , Lucie Thomas , Ludovic Jeanson , Emilie Bequignon , Benoit Vallette , et al.
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
Journal articles inserm-03875562v1

National cohort on imprinting disorders and their metabolic consequences (RaDiCo-IDMet)

Eve Klising-Sireul , Radico Team , Irène Netchine , Agnès Linglart , Laure Jamot
4th ID school of the Imprinting disorder network, Mar 2017, Behoust, France
Conference papers inserm-04059036v1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre , et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Journal articles hal-01560951v1

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide , Boris Keren , Thierry Billette de Villemeur , Sandra Chantot-Bastaraud , Christel Depienne , et al.
The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Journal articles hal-01560200v1

Inborn Errors of Metabolism: The Achilles' Heel of the Respiratory System

Dominique Valeyre , Nadia Nathan , Jean-François Bernaudin
Respiration, 2017, 94 (1), pp.14-15. ⟨10.1159/000477430⟩
Journal articles inserm-04016560v1

Surfactant protein A: A key player in lung homeostasis

Nadia Nathan , Jessica Taytard , Philippe Duquesnoy , Guillaume Thouvenin , Harriet Corvol , et al.
International Journal of Biochemistry and Cell Biology, 2016, 81 (1), pp.151-155. ⟨10.1016/j.biocel.2016.11.003⟩
Journal articles hal-03827802v1

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray

Matthew Edwards , Sally Brescianini , Catherine Allgood , Michael Freelander , Richard Dunstan , et al.
Journal of Paediatrics and Child Health, 2016, 52 (1), pp.85-89. ⟨10.1111/jpc.12981⟩
Journal articles istex inserm-03884531v1

Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort

Myrofora Goutaki , Florian S Halbeisen , Ben D Spycher , Elisabeth Maurer , Fabiën Belle , et al.
European Respiratory Journal, 2017, 50 (6), pp.1701659. ⟨10.1183/13993003.01659-2017⟩
Journal articles inserm-04040780v1

Familial Multiplicity of Estrogen Insensitivity Associated with a Loss-of-Function ESR1 Mutation

Valérie Bernard , Sakina Kherra , Bruno Francou , Jérôme Fagart , Say Viengchareun , et al.
Journal of Clinical Endocrinology and Metabolism, 2016, pp.jc.2016-2749. ⟨10.1210/jc.2016-2749⟩
Journal articles inserm-04006530v1

The CORALIE study: improving patient education to help new users better understand their oral contraceptive

Pia De Reilhac , Genevieve Plu-Bureau , David Serfaty , Brigitte Letombe , Jean Gondry , et al.
European Journal of Contraception and Reproductive Health Care, 2016, 21 (5), pp.388-394. ⟨10.1080/13625187.2016.1217323⟩
Journal articles hal-03603919v1

In situ analysis by SEM-EDX spectroscopy of 10 sarcoidosis cases from MINASARC study

Mickaël Catinon , Cécile Chemarin , Françoise Thivolet , Marianne Kambouchner , Jean-François Bernaudin , et al.
European Respiratory Journal, 2017, volume 50, issue suppl 61. ⟨10.1183/1393003.congress-2017.PA3263⟩
Journal articles hal-02366925v1

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

Enzo Cohen , Mohamad Maghnie , Nathalie Collot , Juliane Leger , Florence Dastot , et al.
Journal of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
Journal articles inserm-03837720v1

Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study

I. Kone-Paut , P. Quartier , O. Fain , G. Grateau , P. Pillet , et al.
Arthritis Care & Research = Arthritis Care and Research, 2017, 69 (6), pp.903 - 911. ⟨10.1002/acr.23083⟩
Journal articles hal-01810326v1

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Claire Bouvattier , Laure Esterle , Peggy Renoult-Pierre , Aude Brac de La Perrière , Frédéric Illouz , et al.
Journal of Clinical Endocrinology and Metabolism, 2015, 100 (6), pp.2303-2313. ⟨10.1210/jc.2014-4124⟩
Journal articles hal-02025462v1

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Pierre-Antoine Juge , Raphaël Borie , Caroline Kannengiesser , Steven Gazal , Patrick Revy , et al.
European Respiratory Journal, 2017, 49 (5), ⟨10.1183/13993003.02314-2016⟩
Journal articles hal-01595463v1

LINGO-1, a protein involved in various neurodevelopmental processes, interacts with neurofibromin (Nf1), the protein responsible for neurofibromatosis type I: molecular studies and functional implications

Hélène Bénédetti , Fabienne Godin , Michel Doudeau , Béatrice Vallée , Marie-Ludivine De Tauzia , et al.
10 th FENS (Forum of Neuroscience), Jul 2016, Copenhague, Denmark
Conference poster hal-02453487v1

Pneumopathie congénitale à cytomégalovirus chez un nouveau-né à terme né de mère séropositive pour le VIH

A. Pham , H. El Mjati , N. Nathan , F. Kieffer , D. Mitanchez
Archives de Pédiatrie, 2017, 24 (9), pp.872-876. ⟨10.1016/j.arcped.2017.06.004⟩
Journal articles inserm-04016440v1

Expression pédiatrique de la sarcoïdose

Nadia Nathan
Journée RespiFIL, Mar 2017, Paris, France
Conference papers inserm-04125406v1

Genetic Heterogeneity in PCD: Efficiency and Limitations of NGS-Based Approaches

Marie Legendre
Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2017, Galveston, TX, United States
Conference papers inserm-04125414v1

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

Seth Masters , James Dooley , Vasiliki Lagou , Isabelle Jéru , Paul Baker , et al.
Science Translational Medicine, 2016, 8 (332), pp.332ra45. ⟨10.1126/scitranslmed.aaf1471⟩
Journal articles inserm-03884409v1

Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis

Caroline Perisson , Leila Destruys , Dominique Grenet , Laurence Bassinet , Jocelyne Derelle , et al.
Respiratory Medicine, 2017, 133 (2), pp.12-15. ⟨10.1016/j.rmed.2017.11.007⟩
Journal articles hal-03827796v1

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Ludovic Jeanson , Bruno Copin , Jean-François Papon , Florence Dastot-Le Moal , Philippe Duquesnoy , et al.
American Journal of Human Genetics, 2015, 97 (1), pp.153-162. ⟨10.1016/j.ajhg.2015.05.004⟩
Journal articles hal-03829114v1

Protean proteases: at the cutting edge of lung diseases

Clifford Taggart , Marcus Mall , Gilles Lalmanach , Didier Cataldo , Andreas Ludwig , et al.
European Respiratory Journal, 2017, 49 (2), pp.1501200. ⟨10.1183/13993003.01200-2015⟩
Journal articles hal-03677244v1

Mutations in GAS8 , a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

Ludovic Jeanson , Lucie Thomas , Bruno Copin , André Coste , Isabelle Sermet-Gaudelus , et al.
Human Mutation, 2016, 37 (8), pp.776-785. ⟨10.1002/humu.23005⟩
Journal articles inserm-03884295v1

Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra

Sophie Georgin-Lavialle , Katia Stankovic Stojanovic , Claude Bachmeyer , Jeremie Sellam , Salam Abbara , et al.
Rheumatology, 2017, 56 (1), pp.167-169. ⟨10.1093/rheumatology/kew290⟩
Journal articles inserm-03837768v1

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane Lucas , Angelo Barbato , Samuel Collins , Myrofora Goutaki , Laura Behan , et al.
European Respiratory Journal, 2017, 49 (1), pp.1601090. ⟨10.1183/13993003.01090-2016⟩
Journal articles inserm-03869001v1

Induction of dendritic cell-mediated T-cell activation by modified but not native low-density lipoprotein in humans and inhibition by annexin a5: involvement of heat shock proteins

Anquan Liu , Julia Yue Ming , Roland Fiskesund , Ewa Ninio , Sonia-Athina Karabina , et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2015, 35 (1), pp.197-205. ⟨10.1161/ATVBAHA.114.304342⟩
Journal articles inserm-03919023v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter , et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1

Biomarkers in Interstitial lung diseases

Nadia Nathan , Harriet Corvol , Serge Amselem , Annick Clement
Paediatric Respiratory Reviews, 2015, 16 (4), pp.219-224. ⟨10.1016/j.prrv.2015.05.002⟩
Journal articles hal-03829116v1

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations

Elodie Nattes , Stephanie Lejeune , Ania Carsin , Raphael Borie , Isabelle Gibertini , et al.
Respiratory Medicine, 2017, 129, pp.16-23. ⟨10.1016/j.rmed.2017.05.014⟩
Journal articles hal-03245020v1