|
|
Proteomic Analysis of Nasal Epithelial Cells from Cystic Fibrosis Patients
Ludovic Jeanson
,
Ida Chiara Guerrera
,
Jean-François Papon
,
Cerina Chhuon
,
Patricia Zadigue
,
et al.
Journal articles
hal-01361837v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03251659v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
pasteur-02868603v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02271435v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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 articles
hal-02006389v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
Marcella Zollino
,
Christiane Zweier
,
Ingrid van Balkom
,
David Sweetser
,
Joseph Alaimo
,
et al.
Journal articles
inserm-03798487v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03480986v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
Seth Masters
,
James Dooley
,
Vasiliki Lagou
,
Isabelle Jéru
,
Paul Baker
,
et al.
Journal articles
inserm-03884409v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Characterization of SLC26A9 in Patients with CF-Like Lung Disease
Naziha Bakouh
,
Thierry Bienvenu
,
Annick Thomas
,
Jordi Ehrenfeld
,
Huguette Liote
,
et al.
Journal articles
inserm-03885353v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02347889v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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 articles
hal-02064139v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Association of Vasculitis and Familial Mediterranean Fever
Salam Abbara
,
Gilles Grateau
,
Stéphanie Ducharme-Bénard
,
David Saadoun
,
Sophie Georgin-Lavialle
Journal articles
hal-02122405v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01484581v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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 articles
hal-02448535v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-04064240v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Challenges of genetic diagnosis
Marie Legendre
PCD Fundation Scientific Conference, Aug 2022, en ligne, France
Conference papers
inserm-04121006v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-04026539v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Maladies interstitielles pulmonaires de l’enfant d’origine génétique
N. Nathan
Other publications
inserm-04099919v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose
A. Servais
,
S. Guguen
,
J. Hogan
,
A. Bertholet-Thomas
,
S. Lemoine
,
et al.
Conference papers
inserm-04056514v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-04148971v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Tifenn Desroziers
,
Grégoire Prévot
,
Aurore Coulomb
,
Valérie Nau
,
Florence Dastot-Le Moal
,
et al.
Journal articles
inserm-04148844v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Diagnostic workup of childhood interstitial lung disease
Nadia Nathan
,
Matthias Griese
,
Katarzyna Michel
,
Julia Carlens
,
Carlee Gilbert
,
et al.
Journal articles
inserm-04016668v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Gonad differentiation toward ovary
Sophie Lamothe
,
Valérie Bernard
,
Sophie Christin-Maitre
Journal articles
hal-03490495v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-03837091v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|