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The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature

Noémie Sa Becker , Paul Verdu , Myriam Georges , Philippe Duquesnoy , Alain Froment , et al.
European Journal of Human Genetics, 2013, 21 (6), pp.653-658. ⟨10.1038/ejhg.2012.223⟩
Journal articles hal-02271435v1

Characterization of SLC26A9 in Patients with CF-Like Lung Disease

Naziha Bakouh , Thierry Bienvenu , Annick Thomas , Jordi Ehrenfeld , Huguette Liote , et al.
Human Mutation, 2013, 34 (10), pp.1404-1414. ⟨10.1002/humu.22382⟩
Journal articles inserm-03885353v1

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

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

How should we approach classification of autoinflammatory diseases?

Gilles Grateau , Véronique Hentgen , Katia Stankovic Stojanovic , Isabelle Jéru , Serge Amselem , et al.
Nature Reviews Rheumatology, 2013, 9 (10), pp.624-629. ⟨10.1038/nrrheum.2013.101⟩
Journal articles inserm-03888413v1

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

Christelle Vallet , Estelle Escudier , Françoise Roudot-Thoraval , Sylvain Blanchon , Brigitte Fauroux , et al.
European Journal of Pediatrics, 2013, 172 (8), pp.1053-1060. ⟨10.1007/s00431-013-1996-5⟩
Journal articles istex inserm-03888563v1

Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D

Jean-Claude Souberbielle , Claude-Laurent Benhamou , Bernard Cortet , Mickael Rousière , Christian Roux , et al.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
Journal articles hal-01225515v1

Pathophysiology of hereditary recurrent fever syndromes: cellular and molecular approaches

Fawaz Awad
Human genetics. Université Pierre et Marie Curie, 2014. English. ⟨NNT : ⟩
Theses tel-03934824v1

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Adi Mory , Efrat Dagan , Ishai Shahor , Hanna Mandel , Barbara Illi , et al.
Pediatric Neurology, 2014, 50 (4), pp.421-426. ⟨10.1016/j.pediatrneurol.2014.01.006⟩
Journal articles inserm-03885276v1

Alveolar epithelial cells: Master regulators of lung homeostasis

Loïc Guillot , Nadia Nathan , Olivier Tabary , Guillaume Thouvenin , Philippe Le Rouzic , et al.
International Journal of Biochemistry and Cell Biology, 2013, 45 (11), pp.2568-2573. ⟨10.1016/j.biocel.2013.08.009⟩
Journal articles hal-03829388v1

Evidence-based recommendations for the practical management of Familial Mediterranean Fever

Véronique Hentgen , Gilles Grateau , Isabelle Kone-Paut , Avi Livneh , Shai Padeh , et al.
Seminars in Arthritis and Rheumatism, 2013, 43 (3), pp.387-391. ⟨10.1016/j.semarthrit.2013.04.011⟩
Journal articles inserm-03888454v1

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

p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Cecile Nozières , Chang-Xian Zhang , Alexandre Buffet , Stéphanie Dupasquier , Rosa Vargas-Poussou , et al.
Annales d'Endocrinologie, 2014, 75 (3), pp.133-140. ⟨10.1016/j.ando.2014.05.003⟩
Journal articles hal-03276624v1

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

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott , Marie Legendre , Bruno Copin , Jean-François Papon , Florence Dastot-Le Moal , et al.
American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩
Journal articles inserm-03887837v1

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency

Cecilia Lazea , Paula Grigorescu-Sido , Radu Popp , Marie Legendre , Serge Amselem , et al.
Journal of Pediatric Endocrinology and Metabolism, 2015, 28 (9-10), pp.993-8. ⟨10.1515/jpem-2014-0289⟩
Journal articles hal-03884701v1

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.

Thassadite Dirami , Baptiste Rode , Mathilde Jollivet , Nathalie da Silva , Denise Escalier , et al.
American Journal of Human Genetics, 2013, 92 (5), pp.760-6. ⟨10.1016/j.ajhg.2013.03.016⟩
Journal articles hal-00990664v1

Familial Mediterranean Fever in Heterozygotes: Are We Able to Accurately Diagnose the Disease in Very Young Children?

Véronique Hentgen , Gilles Grateau , Katia Stankovic-Stojanovic , Serge Amselem , Isabelle Jéru
Arthritis & rheumatology, 2013, 65 (6), pp.1654-1662. ⟨10.1002/art.37935⟩
Journal articles inserm-03888616v1

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala , Heon Yung Gee , Małgorzata Kurkowiak , Dalal A. Al-Mutairi , Margaret W. Leigh , et al.
American Journal of Human Genetics, 2013, 93 (2), pp.336-345. ⟨10.1016/j.ajhg.2013.06.007⟩
Journal articles inserm-03887971v1

Evaluation of sperm nuclear integrity in patients with different percentages of decapitated sperm in ejaculates

Christine Rondanino , V Duchesne , D Escalier , F Jumeau , F Verhaeghe , et al.
Reproductive BioMedicine Online, 2015, 31 (1), pp.89-99. ⟨10.1016/j.rbmo.2015.04.002⟩
Journal articles hal-01918679v1

CFTR dysfunction induces vascular endothelial growth factor synthesis in airway epithelium

Clémence Martin , Nathalie Coolen , Yongzheng Wu , Guiti Thévenot , Lhousseine Touqui , et al.
European Respiratory Journal, 2013, 42 (6), pp.1553-1562. ⟨10.1183/09031936.00164212⟩
Journal articles pasteur-02863041v1

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders

Isabelle Jéru , Emmanuelle Cochet , Philippe Duquesnoy , Véronique Hentgen , Bruno Copin , et al.
Arthritis & rheumatology, 2014, 66 (9), pp.2621-2627. ⟨10.1002/art.38727⟩
Journal articles inserm-03884901v1

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism

Nabila Fritez , Marie-Laure Sobrier , Hinde Iraqi , Marie-Pierre Vié-Luton , Irène Netchine , et al.
Clinical Endocrinology, 2015, 82 (6), pp.876-884. ⟨10.1111/cen.12706⟩
Journal articles istex hal-03884719v1