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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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Hemodynamic and biological correlates of glomerular hyperfiltration in sickle cell patients before and under renin–angiotensin system blocker

Jean-Philippe Haymann , Nadjib Hammoudi , Marine Livrozet , Aline Santin , Sarah Mattioni , et al.
Scientific Reports, 2021, 11 (1), ⟨10.1038/s41598-021-91161-y⟩
Journal articles hal-03251659v1
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Genetic dissection of Rift Valley fever pathogenesis: Rvfs2 locus on mouse chromosome 11 enables survival to early-onset hepatitis

Leandro Batista , Grégory Jouvion , Dominique Simon-Chazottes , Denis Houzelstein , Odile Burlen-Defranoux , et al.
Scientific Reports, 2020, 10 (1), pp.8734. ⟨10.1038/s41598-020-65683-w⟩
Journal articles pasteur-02868603v1

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

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Solveig Heide , Sandra Chantot-Bastaraud , Boris Keren , Madeleine D Harbison , Salah Azzi , et al.
Journal of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩
Journal articles hal-02006389v1
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Marcella Zollino , Christiane Zweier , Ingrid van Balkom , David Sweetser , Joseph Alaimo , et al.
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩
Journal articles inserm-03798487v1

Global guideline for the diagnosis and management of the endemic mycoses: an initiative of the European Confederation of Medical Mycology in cooperation with the International Society for Human and Animal Mycology

Guilherme Raposo Thompson , Thuy Le , Ariya Chindamporn , Carol A Kauffman , Ana Alastruey-Izquierdo , et al.
The Lancet Infectious Diseases, 2021, 21 (12), pp.e364-e374. ⟨10.1016/S1473-3099(21)00191-2⟩
Journal articles hal-03480986v1

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

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

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
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine , et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1
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Association of Vasculitis and Familial Mediterranean Fever

Salam Abbara , Gilles Grateau , Stéphanie Ducharme-Bénard , David Saadoun , Sophie Georgin-Lavialle
Frontiers in Immunology, 2019, 10, pp.763. ⟨10.3389/fimmu.2019.00763⟩
Journal articles hal-02122405v1
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Role of lipid phosphate phosphatase 3 in human aortic endothelial cell function

Zahia Touat-Hamici , Henri Weidmann , Yuna Blum , Carole Proust , Hervé Durand , et al.
Cardiovascular Research, 2016, 112 (3), pp.702 - 713. ⟨10.1093/cvr/cvw217⟩
Journal articles hal-01484581v1
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Slug, a Cancer‐Related Transcription Factor, is Involved in Vascular Smooth Muscle Cell Transdifferentiation Induced by Platelet‐Derived Growth Factor‐BB During Atherosclerosis

Nahema Ledard , Alexandrine Liboz , Bertrand Blondeau , Mégane Babiak , Célia Moulin , et al.
Journal of the American Heart Association, 2020, 9 (2), pp.e014276. ⟨10.1161/JAHA.119.014276⟩
Journal articles hal-02448535v1
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ICG-001, an Inhibitor of the β-Catenin and cAMP Response Element-Binding Protein Dependent Gene Transcription, Decreases Proliferation but Enhances Migration of Osteosarcoma Cells

Geoffroy Danieau , Sarah Morice , Sarah Renault , Régis Brion , Kevin Biteau , et al.
Pharmaceuticals, 2021, 14 (5), pp.421. ⟨10.3390/ph14050421⟩
Journal articles hal-04064240v1

Challenges of genetic diagnosis

Marie Legendre
PCD Fundation Scientific Conference, Aug 2022, en ligne, France
Conference papers inserm-04121006v1
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11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome

Walid Abi Habib , Frederic Brioude , Salah Azzi , Jennifer Salem , Cristina das Neves , et al.
Human Mutation, 2017, 38 (1), pp.105-111. ⟨10.1002/humu.23131⟩
Journal articles hal-04026539v1

Maladies interstitielles pulmonaires de l’enfant d’origine génétique

N. Nathan
Other publications inserm-04099919v1

Tattooing and autoinflammatory diseases: a study among 197 French patients from the JIR cohort

N. Kluger , R. Bourguiba , M. Delplanque , V. Hentgen , I Kone‐paut , et al.
Journal of the European Academy of Dermatology and Venereology, 2022, 36 (5), ⟨10.1111/jdv.17886⟩
Journal articles inserm-04048014v1
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RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose

A. Servais , S. Guguen , J. Hogan , A. Bertholet-Thomas , S. Lemoine , et al.
Congrès Société Francophone de Néphrologie, Dialyse et Transplantation (SFNDT), Oct 2022, Rennes (FR), France. pp.313, ⟨10.1016/j.nephro.2022.07.249⟩
Conference papers inserm-04056514v1

Diagnostic moléculaire de la dyskinésie ciliaire primitive dans une cohorte tunisienne : identification d’un allèle majeur

Rahma Mani , Imed Mabrouk , Bruno Copin , Florence Dastot - Le Moal , Guy Montantin , et al.
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
Conference poster inserm-03952653v1

Nouveautés dans la Génétique des dyskinésies ciliaires primitives

Marie Legendre
Journée du CRMR des maladies respiratoires rares (RespiRare), Jan 2021, En ligne (Paris), France
Conference papers inserm-04155014v1
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Elma El Khouri , Farah Diab , Camille Louvrier , Eman Assrawi , Aphrodite Daskalopoulou , et al.
eLife, 2023, 12, pp.e81280. ⟨10.7554/eLife.81280⟩
Journal articles inserm-04148971v1
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

Tifenn Desroziers , Grégoire Prévot , Aurore Coulomb , Valérie Nau , Florence Dastot-Le Moal , et al.
European Journal of Human Genetics, 2023, ⟨10.1038/s41431-023-01413-w⟩
Journal articles inserm-04148844v1
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Diagnostic workup of childhood interstitial lung disease

Nadia Nathan , Matthias Griese , Katarzyna Michel , Julia Carlens , Carlee Gilbert , et al.
European Respiratory Review, 2023, 32 (167), pp.220188. ⟨10.1183/16000617.0188-2022⟩
Journal articles inserm-04016668v1

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
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Gonad differentiation toward ovary

Sophie Lamothe , Valérie Bernard , Sophie Christin-Maitre
Annales d'Endocrinologie, 2020, 81, pp.83 - 88. ⟨10.1016/j.ando.2020.04.004⟩
Journal articles hal-03490495v1

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia

Marie Legendre , Guillaume Thouvenin , Jessica Taytard , Marguerite Baron , Muriel Le Bourgeois , et al.
Annals of the American Thoracic Society, 2022, 19 (10), pp.1704-1712. ⟨10.1513/AnnalsATS.202110-1175OC⟩
Journal articles inserm-03837091v1