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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.
Journal articles
inserm-03875562v1
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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
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese
,
Mitali Patel
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Amelia Shoemark
,
Santeri Kiviluoto
,
Marie Legendre
,
et al.
Journal articles
hal-01560951v1
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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
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Christel Depienne
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et al.
Journal articles
hal-01560200v1
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Inborn Errors of Metabolism: The Achilles' Heel of the Respiratory System
Dominique Valeyre
,
Nadia Nathan
,
Jean-François Bernaudin
Journal articles
inserm-04016560v1
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Surfactant protein A: A key player in lung homeostasis
Nadia Nathan
,
Jessica Taytard
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Philippe Duquesnoy
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Guillaume Thouvenin
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Harriet Corvol
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et al.
Journal articles
hal-03827802v1
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Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray
Matthew Edwards
,
Sally Brescianini
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Catherine Allgood
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Michael Freelander
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Richard Dunstan
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et al.
Journal articles
istex
inserm-03884531v1
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Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort
Myrofora Goutaki
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Florian S Halbeisen
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Ben D Spycher
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Elisabeth Maurer
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Fabiën Belle
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et al.
Journal articles
inserm-04040780v1
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Familial Multiplicity of Estrogen Insensitivity Associated with a Loss-of-Function ESR1 Mutation
Valérie Bernard
,
Sakina Kherra
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Bruno Francou
,
Jérôme Fagart
,
Say Viengchareun
,
et al.
Journal articles
inserm-04006530v1
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The CORALIE study: improving patient education to help new users better understand their oral contraceptive
Pia De Reilhac
,
Genevieve Plu-Bureau
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David Serfaty
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Brigitte Letombe
,
Jean Gondry
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et al.
Journal articles
hal-03603919v1
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In situ analysis by SEM-EDX spectroscopy of 10 sarcoidosis cases from MINASARC study
Mickaël Catinon
,
Cécile Chemarin
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Françoise Thivolet
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Marianne Kambouchner
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Jean-François Bernaudin
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et al.
Journal articles
hal-02366925v1
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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 articles
inserm-03837720v1
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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
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et al.
Arthritis Care & Research = Arthritis Care and Research, 2017, 69 (6), pp.903 - 911. ⟨10.1002/acr.23083⟩
Journal articles
hal-01810326v1
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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
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et al.
Journal articles
hal-02025462v1
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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.
Journal articles
hal-01595463v1
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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
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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
Journal articles
inserm-04016440v1
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Expression pédiatrique de la sarcoïdose
Nadia Nathan
Journée RespiFIL, Mar 2017, Paris, France
Conference papers
inserm-04125406v1
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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
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Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
Seth Masters
,
James Dooley
,
Vasiliki Lagou
,
Isabelle Jéru
,
Paul Baker
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et al.
Journal articles
inserm-03884409v1
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Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis
Caroline Perisson
,
Leila Destruys
,
Dominique Grenet
,
Laurence Bassinet
,
Jocelyne Derelle
,
et al.
Journal articles
hal-03827796v1
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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.
Journal articles
hal-03829114v1
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Protean proteases: at the cutting edge of lung diseases
Clifford Taggart
,
Marcus Mall
,
Gilles Lalmanach
,
Didier Cataldo
,
Andreas Ludwig
,
et al.
Journal articles
hal-03677244v1
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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.
Journal articles
inserm-03884295v1
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Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra
Sophie Georgin-Lavialle
,
Katia Stankovic Stojanovic
,
Claude Bachmeyer
,
Jeremie Sellam
,
Salam Abbara
,
et al.
Journal articles
inserm-03837768v1
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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Jane Lucas
,
Angelo Barbato
,
Samuel Collins
,
Myrofora Goutaki
,
Laura Behan
,
et al.
Journal articles
inserm-03869001v1
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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.
Journal articles
inserm-03919023v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
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Boris Keren
,
Solveig Heide
,
Agnès Rastetter
,
et al.
Journal articles
hal-01502135v1
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Biomarkers in Interstitial lung diseases
Nadia Nathan
,
Harriet Corvol
,
Serge Amselem
,
Annick Clement
Journal articles
hal-03829116v1
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Heterogeneity of lung disease associated with NK2 homeobox 1 mutations
Elodie Nattes
,
Stephanie Lejeune
,
Ania Carsin
,
Raphael Borie
,
Isabelle Gibertini
,
et al.
Journal articles
hal-03245020v1
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