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.
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
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
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.
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.
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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⟩
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inserm-00881678v1
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Vidéochirurgie chez l'enfant : Progrès actuels et perspectives futures
Matthieu Peycelon
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B. Parmentier
,
Claire Raquillet
,
N. Louvet
,
Georges Audry
,
et al.
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.
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⟩
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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.
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.
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.
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⟩
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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.
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.
Journal articles
istex
hal-01311723v1
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