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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

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

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 of Assisted Reproduction and Genetics, 2021, 38 (9), pp.2491-2499. ⟨10.1007/s10815-021-02232-y⟩
Journal articles inserm-03780515v1

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

Atypical and extreme presentations of surfactant disorders

Nadia Nathan
COST Innovators Grant Training school, May 2022, Dublin (Ireland), Ireland
Conference papers inserm-04155457v1

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.
American Journal of Respiratory and Critical Care Medicine, 2021, 204 (1), pp.64-73. ⟨10.1164/rccm.202011-4153OC⟩
Journal articles hal-03704955v1

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

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.
La Revue de Médecine Interne, 2023, 44 (2), pp.62-71. ⟨10.1016/j.revmed.2022.12.004⟩
Journal articles hal-04023016v1

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.
Respiration, 2022, 101 (6), pp.531-543. ⟨10.1159/000520657⟩
Journal articles inserm-03798564v1

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.
Journées Dermatologiques de Paris, Nov 2021, Paris, France. pp.A145-A146, ⟨10.1016/j.fander.2021.09.589⟩
Conference papers inserm-03845123v1

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

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.
European Journal of Pediatrics, 2023, 182 (2), pp.877-888. ⟨10.1007/s00431-022-04754-8⟩
Journal articles hal-03993835v1

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.
Annals of the Rheumatic Diseases, 2022, 81 (1), pp.e15-e15. ⟨10.1136/annrheumdis-2019-216827⟩
Journal articles inserm-04047980v1

Interstitial lung diseases in children

Nadia Nathan
Egyptian Congress of pediatric Pulmonology, Jun 2021, En ligne, Egypt
Conference papers inserm-04154978v1

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

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 of Assisted Reproduction and Genetics, 2023, 40 (1), pp.33-40. ⟨10.1007/s10815-022-02665-z⟩
Journal articles inserm-04031915v1

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.
Frontiers in Medicine, 2022, 9, ⟨10.3389/fmed.2022.1000167⟩
Journal articles hal-03991545v1

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

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

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

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.
Clinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩
Journal articles inserm-03837963v1

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.
Clinical Nuclear Medicine, 2022, 47 (5), pp.394-401. ⟨10.1097/RLU.0000000000004126⟩
Journal articles inserm-04041605v1

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 of Clinical Endocrinology and Metabolism, 2023, 107 (8), pp.e3313 - e3320. ⟨10.1210/clinem/dgac274⟩
Journal articles inserm-04042292v1

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

Challenges of genetic diagnosis

Marie Legendre
PCD Fundation Scientific Conference, Aug 2022, en ligne, France
Conference papers inserm-04121006v1

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

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

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

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.
Seminars in Arthritis and Rheumatism, 2021, 51 (6), pp.1170-1179. ⟨10.1016/j.semarthrit.2021.09.001⟩
Journal articles hal-03648250v1