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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Mariem Ben Khelifa , Charles Coutton , Raoudha Zouari , Thomas Karaouzène , John Rendu , et al.
American Journal of Human Genetics, 2014, 94 (1), pp.95-104. ⟨10.1016/j.ajhg.2013.11.017⟩
Journal articles pasteur-01061012v1
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A diet containing soybean oil heated for three hours increases adipose tissue weight but decreases body weight in C57BL/6 J mice

Meera Penumetcha , Mary Schneider , Holly Cheek , Sonia Karabina
Lipids in Health and Disease, 2013, 12 (1), pp.26. ⟨10.1186/1476-511X-12-26⟩
Journal articles inserm-00801429v1
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A diet containing soybean oil heated for three hours increases adipose tissue weight but decreases body weight in C57BL/6 J mice

Meera Penumetcha , Mary K Schneider , Holly A Cheek , Sonia Karabina
Lipids in Health and Disease, 2013, 12, pp.26. ⟨10.1186/1476-511X-12-26⟩
Journal articles hal-01583973v1
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PW03-034 - How to classify autoinflammatory diseases?

Gilles Grateau , Véronique Hentgen , Katia Stankovic Stojanovic , Isabelle Jéru , Serge Amselem , et al.
Pediatric Rheumatology, May 2013, Lausanne, Switzerland. pp.A260, ⟨10.1186/1546-0096-11-S1-A26⟩
Conference papers inserm-00881689v1
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Proteomic Analysis of Nasal Epithelial Cells from Cystic Fibrosis Patients

Ludovic Jeanson , Ida Chiara Guerrera , Jean-François Papon , Cerina Chhuon , Patricia Zadigue , et al.
PLoS ONE, 2014, 9 (9), pp.e108671. ⟨10.1371/journal.pone.0108671⟩
Journal articles hal-01361837v1
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P02-014 - Consequences of Arginine 92 mutations in TNFR1

Isabelle Jéru , Serge Charmion , Emmanuelle Cochet , Bruno Copin , Gaëlle Le Borgne , et al.
Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID), May 2013, Lausanne, Switzerland. pp.A121, ⟨10.1186/1546-0096-11-S1-A121⟩
Conference papers inserm-00881678v1
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Vidéochirurgie chez l'enfant : Progrès actuels et perspectives futures

Matthieu Peycelon , B. Parmentier , Claire Raquillet , N. Louvet , Georges Audry , et al.
Archives de Pédiatrie, 2013, 20 (5), pp.509-16. ⟨10.1016/j.arcped.2013.02.073⟩
Journal articles inserm-00825077v1
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PLA2G10 Gene Variants, sPLA2 Activity, and Coronary Heart Disease Risk

Montse Guardiola , Holly Exeter , Claire Perret , Lasse Folkersen , Ferdinand Van'T Hooft , et al.
Circulation: Cardiovascular Genetics, 2015, 8 (2), pp.356-362. ⟨10.1161/CIRCGENETICS.114.000633⟩
Journal articles inserm-03918966v1
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OR13-003 - TNFRSF11A molecular defects cause autoinflammatory disorders

Isabelle Jéru , Emmanuelle Cochet , Philippe Duquesnoy , Véronique Hentgen , Bruno Copin , et al.
Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID, May 2013, Lausanne ( CH), Switzerland. pp.A265, ⟨10.1186/1546-0096-11-S1-A265⟩
Conference papers inserm-00881691v1
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Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

Fawaz Awad , Sophie Georgin-Lavialle , Anne Brignier , Coralie Derrieux , Achille Aouba , et al.
Orphanet Journal of Rare Diseases, 2015, 10, pp.76. ⟨10.1186/s13023-015-0295-9⟩
Journal articles hal-01275739v1
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Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders

Isabelle Jéru , Serge Charmion , Emmanuelle Cochet , Bruno Copin , Philippe Duquesnoy , et al.
PLoS ONE, 2013, 8 (7), pp.e69757. ⟨10.1371/journal.pone.0069757⟩
Journal articles inserm-03887903v1
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The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical Approach

Isabelle Jéru , Véronique Hentgen , Emmanuelle Cochet , Philippe Duquesnoy , Gaëlle Le Borgne , et al.
PLoS ONE, 2013, 8 (7), pp.e68431. ⟨10.1371/journal.pone.0068431⟩
Journal articles inserm-03888047v1
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OR2-002 - The risk of FMF in MEFV heterozygotes

Isabelle Jéru , Véronique Hentgen , Emmanuelle Cochet , Philippe Duquesnoy , Gaëlle Le Borgne , et al.
7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID), May 2013, Lausanne, Switzerland. pp.A2, ⟨10.1186/1546-0096-11-S1-A2⟩
Conference papers inserm-00881682v1
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Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

Bruno Donadille , Pascal d'Anella , Martine Auclair , Nancy Uhrhammer , Marc Sorel , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.106. ⟨10.1186/1750-1172-8-106⟩
Journal articles inserm-00847200v1
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

Capucine Hyon , Sandra Chantot-Bastaraud , Radu Harbuz , Rakia Bhouri , Nicolas Perrot , et al.
American Journal of Medical Genetics Part A, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩
Journal articles istex hal-01311723v1