RaDiCo, le programme de recherche national sur les cohortes maladies rares en 2021
Serge Amselem
,
Sonia Gueguen
,
Jérôme Weinbach
,
Annick Clement
,
Paul Landais
Assises de Génétique , Feb 2022, Rennes, France
Conference poster
inserm-03922775v1
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uORF-creating-mutations in Van der Woude syndrome: why it is important to study 5’UTRs
Magalie Lodin
,
Julie Galimand
,
Florence Dastot - Le Moal
,
Bruno Copin
,
Sandra Mercier
,
et al.
Assises de Génétique , Feb 2022, Rennes (FR), France
Conference papers
inserm-03922478v1
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Detailed cell-level analysis of sperm nuclear quality among the different hypo-osmotic swelling test (HOST) classes
Adrien Bloch
,
Eli Rogers
,
Cynthia Nicolas
,
Tanguy Martin-Denavit
,
Miguel Monteiro
,
et al.
Journal articles
inserm-03780515v1
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Quality of life assessment by SF-36 in elderly patients with familial Mediterranean fever: a comparative cross-sectional study from the Juvenile Inflammatory Rheumatism cohort
Audrey Rouet
,
Samuel Deshayes
,
Léa Savey
,
Gilles Grateau
,
Sophie Georgin-Lavialle
Other publications
inserm-04050068v1
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Atypical and extreme presentations of surfactant disorders
Nadia Nathan
COST Innovators Grant Training school , May 2022, Dublin (Ireland), Ireland
Conference papers
inserm-04155457v1
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Rapid Improvement after Starting Elexacaftor–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease
Pierre-Régis Burgel
,
Isabelle Durieu
,
Raphaël Chiron
,
Sophie Ramel
,
Isabelle Danner-Boucher
,
et al.
Journal articles
hal-03704955v1
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Le lavage bronchoalvéolaire dans l’asthme de l’enfant: une exploration de routine?
Raja Ben Tkhayat
,
Nadia Nathan
Journées parisiennes de Pédiatrie , Sep 2022, Paris, France
Conference papers
inserm-04121205v1
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French practical guidelines for the diagnosis and management of AA amyloidosis
Sophie Georgin-Lavialle
,
Léa Savey
,
D. Buob
,
Jean-Philippe Bastard
,
Soraya Fellahi
,
et al.
Journal articles
hal-04023016v1
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Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
Effrosyni D Manali
,
Caroline Kannengiesser
,
Raphael Borie
,
Ibrahima Ba
,
Demosthenes Bouros
,
et al.
Journal articles
inserm-03798564v1
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Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne
Camille Louvrier
,
Fawaz Awad
,
Anne Cosnes
,
Elma El Khouri
,
Eman Assrawi
,
et al.
Conference papers
inserm-03845123v1
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French practical guidelines for the diagnosis and management of idiopathic pulmonary fibrosis – 2021 update. Full-length version
Vincent Cottin
,
Philippe Bonniaud
,
Jacques Cadranel
,
Bruno Crestani
,
Stéphane Jouneau
,
et al.
Respiratory Medicine and Research , 2022, 39 (7), TT - Recommandations pratiques pour le diagnostic et la prise en charge de la fibrose.
⟨10.1016/j.resmer.2022.100948⟩
Journal articles
hal-04087431v1
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Children’s views on artificial intelligence and digital twins for the daily management of their asthma: a mixed-method study
Apolline Gonsard
,
Rola Aboutaam
,
Blandine Prévost
,
Charlotte Roy
,
Alice Hadchouel
,
et al.
Journal articles
hal-03993835v1
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Do we need the PFAPA syndrome in adults with non-monogenic periodic fevers?
Antoine Fayand
,
Veronique Hentgen
,
Stephanie Ducharme-Bénard
,
Pierre Quartier
,
Brigitte Bader-Meunier
,
et al.
Journal articles
inserm-04047980v1
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Interstitial lung diseases in children
Nadia Nathan
Egyptian Congress of pediatric Pulmonology , Jun 2021, En ligne, Egypt
Conference papers
inserm-04154978v1
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Impasses diagnostiques dans les PID
Nadia Nathan
Journée du CRMR des maladies respiratoires rares (RespiRare) , Jan 2021, En ligne (Paris), France
Conference papers
inserm-04155030v1
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Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier
Capucine Rossi
,
Jean-Pierre Siffroi
,
Léa Ruosso
,
Eli Rogers
,
Michael Becker
,
et al.
Journal articles
inserm-04031915v1
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Vasculitis and familial Mediterranean fever: Description of 22 French adults from the juvenile inflammatory rheumatism cohort
Salam Abbara
,
Jean-Benoit Monfort
,
Léa Savey
,
Philippe Moguelet
,
David Saadoun
,
et al.
Journal articles
hal-03991545v1
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The Rare Disease Cohorts (RaDiCo) program: Set up and follow-up of national and international e-cohorts
Sonia GUEGUEN
,
Paul Landais
,
Annick Clement
,
Serge Amselem
World Conference on Rare Diseases (RARE2021) , Feb 2021, virtual event, France
Conference poster
inserm-04059764v1
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uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs
Magalie Lodin
,
Julie Galimand
,
Florence Dastot - Le Moal
,
Bruno Copin
,
Sandra Mercier
,
et al.
European Society of Human Genetics , Jun 2022, Vienne, Austria
Conference poster
inserm-03922101v1
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Identification et caractérisation fonctionnelle de mutations de lyn dans une urticaire auto-inflammatoire syndromique
Camille Louvrier
,
Elma El Khouri
,
Martine Grall Lerosey
,
Pierre Quartier
,
A.-M. Guerrot
,
et al.
Assises de Génétique Humaine et Médicale , Feb 2022, Rennes, France
Conference poster
inserm-03922868v1
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Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study
Guillaume Jouret
,
Solveig Heide
,
Arthur Sorlin
,
Laurence Faivre
,
Sandra Chantot-Bastaraud
,
et al.
Journal articles
inserm-03837963v1
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Role of 68Ga-DOTATOC PET/CT in Insulinoma According to 3 Different Contexts: A Retrospective Study
Pierre-Louis Moreau
,
Cyrielle Aveline
,
Sophie Christin-Maitre
,
Philippe Chanson
,
Olivier Dubreuil
,
et al.
Journal articles
inserm-04041605v1
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Pituitary MRI Features in Acromegaly Resulting From Ectopic GHRH Secretion From a Neuroendocrine Tumor: Analysis of 30 Cases
Iulia Potorac
,
Jean-François Bonneville
,
Adrian F Daly
,
Wouter de Herder
,
Patricia Fainstein-Day
,
et al.
Journal articles
inserm-04042292v1
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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
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Challenges of genetic diagnosis
Marie Legendre
PCD Fundation Scientific Conference , Aug 2022, en ligne, France
Conference papers
inserm-04121006v1
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Maladies interstitielles pulmonaires de l’enfant d’origine génétique
N. Nathan
Other publications
inserm-04099919v1
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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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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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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
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DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases
Antoine Fayand
,
François Chasset
,
David Boutboul
,
Viviane Queyrel
,
Nathalie Tieulié
,
et al.
Journal articles
hal-03648250v1
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