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

The NLRP3 p.A441V mutation in cryopyrin-associated periodic syndrome pathogenesis: functional consequences, phenotype-genotype correlations and evidence for a founder effect

Eman Assrawi , Fawaz Awad , Claire Jumeau , Sylvie Odent , Veronique Despert , et al.
ISSAID, Mar 2019, Genes, Italy
Conference poster inserm-03952891v1

Détresse respiratoire du nouveau-né à terme : place de la génétique en 2020.

Nadia Nathan
Congrès de Pneumologie et d’Allergologie Pédiatrique (CPAP), Nov 2020, En Ligne, France
Conference papers inserm-04155525v1

Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis

Pierre-Régis Burgel , Anne Munck , Isabelle Durieu , Raphaël Chiron , Laurent Mely , et al.
American Journal of Respiratory and Critical Care Medicine, 2020, 201 (2), pp.188-197. ⟨10.1164/rccm.201906-1227OC⟩
Journal articles hal-03704946v1

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

Usefulness of bronchoalveolar lavage in a French pediatric cohort with hypersensitivity pneumonitis

Stéphanie Wanin , Clara Malka-Ruimy , Antoine Deschildre , Nadia Nathan , Gabriel Reboux , et al.
Pediatric Pulmonology, 2019, 55 (1), pp.136-140. ⟨10.1002/ppul.24546⟩
Journal articles hal-03537187v1

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

Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis

Pierre-Régis Burgel , Anne Munck , Isabelle Durieu , Raphaël Chiron , Laurent Mely , et al.
American Journal of Respiratory and Critical Care Medicine, 2020, 201 (2), pp.188-197. ⟨10.1164/rccm.201906-1227OC⟩
Journal articles hal-02451455v1

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

Marie-Louise Frémond , Marie Legendre , Michael Fayon , Annick Clement , Emilie Filhol-Blin , et al.
Thorax, 2019, pp.thoraxjnl-2019-213892. ⟨10.1136/thoraxjnl-2019-213892⟩
Journal articles pasteur-02376257v1

OP0107 HETEROZYGOUS MUTATIONS IN COPA ARE ASSOCIATED WITH ENHANCED TYPE I INTERFERON SIGNALLING

Marie-Louise Frémond , Alice Lepelley , Carolina Uggenti , Maria José Martin-Niclos , Marine Depp , et al.
Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019, Jun 2019, Madrid, Spain. pp.127.1-127, ⟨10.1136/annrheumdis-2019-eular.4158⟩
Conference papers pasteur-03251879v1

AA Amyloidosis in the Course of HIV Infection: A Report of 19 Cases Including 4 New French Cases and a Comprehensive Review of Literature

Paul Breillat , Valérie Pourcher , Samuel Deshayes , David Buob , Alexandre Cez , et al.
Nephron Physiology, 2021, 145 (6), pp.675-683. ⟨10.1159/000516982⟩
Journal articles hal-03793618v1

Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

Sarah Eskenazi , Anne Bachelot , Justine Hugon-Rodin , Genevieve Plu-Bureau , Anne Gompel , et al.
Journal of the Endocrine Society, 2021, 5 (7), ⟨10.1210/jendso/bvab032⟩
Journal articles inserm-04006159v1

Démarche diagnostique des PID chez l’enfant

Nadia Nathan
Congrès national de pneumologie de Tunisie, Dec 2019, Tunis, Tunisia
Conference papers inserm-04155571v1

State of the art session: Paediatric respiratory diseases. Interstitial lung disease

Nadia Nathan
European Respiratory Society (ERS) Congress, Sep 2019, Madrid, Spain
Conference papers inserm-04155625v1

AA amyloidosis of unknown origin in New-Caledonia with focus on the association with gout: a consecutive case series of 20 patients

Jean-Simon Rech , Nicolas Quirin , David Buob , Sophie Georgin-Lavialle , Gilles Grateau , et al.
Other publications inserm-04050014v1

AA amyloidosis associated with Fabry disease

Alexandre Terré , Bertrand Knebelmann , David Buob , Marion Rabant , Olivier Lidove , et al.
International Journal of Clinical Practice, 2020, 74 (10), ⟨10.1111/ijcp.13577⟩
Journal articles inserm-04050836v1

Identification of IgG1 isotype phosphorylcholine antibodies for the treatment of inflammatory cardiovascular diseases

Margreet de Vries , Mark Ewing , Rob C.M. de Jong , Michael Macarthur , Jacco Karper , et al.
Journal of Internal Medicine, 2020, ⟨10.1111/joim.13234⟩
Journal articles hal-03098220v1

Unilateral nonhaemorrhagic adrenal infarction as a cause of abdominal pain during pregnancy

F. Chasseloup , N. Bourcigaux , S. Christin-Maitre
Gynecological Endocrinology, 2019, 35 (11), pp.941-944. ⟨10.1080/09513590.2019.1622088⟩
Journal articles inserm-04047091v1

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud , et al.
Genetics in Medicine, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩
Journal articles hal-01932802v1

Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France

Ines Elhani , Anael Dumont , Samuel Deshayes , Sophie Georgin-Lavialle , Irina Giurgea , et al.
Joint Bone Spine, 2020, 87 (3), pp.251-255. ⟨10.1016/j.jbspin.2020.01.005⟩
Journal articles inserm-03798471v1

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

Pregnancies and Turner syndrome

Sophie Christin-Maitre
13th Congress of the European Society of Gynecology (ESG), Oct 2019, Vienna (Austria), Austria
Conference papers inserm-04155615v1

Health-related quality of life in infants and children with interstitial lung disease.

Nadia Nathan
ENTeR-chILD COST-action meeting, Sep 2019, Timosoara, Romania
Conference papers inserm-04155708v1

One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD)

Steve Cunningham , Catriona Graham , Morag Maclean , Paul Aurora , Michael Ashworth , et al.
Thorax, 2019, 75 (2), pp.172 - 175. ⟨10.1136/thoraxjnl-2019-213217⟩
Journal articles inserm-04041233v1

Cause of death and risk factors for mortality in AA amyloidosis: A French retrospective study

Alexandre Terré , Samuel Deshayes , Léa Savey , Gilles Grateau , Sophie Georgin-Lavialle
Other publications inserm-04050698v1

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

Atypical presentation of COVID-19 in young infants

Nadia Nathan , Blandine Prevost , Harriet Corvol
The Lancet, 2020, 395 (10235), pp.1481. ⟨10.1016/S0140-6736(20)30980-6⟩
Journal articles hal-03827783v1

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Elodie Fiot , Delphine Zenaty , Priscilla Boizeau , Jérémie Haignere , Sophie dos Santos , et al.
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
Journal articles hal-02863454v1

Heterozygous mutations in COPA are associated with enhanced type I interferon signalling

Marie-Louise Frémond , Alice Lepelley , Carolina Uggenti , Maria José Martin-Niclos , Marine Depp , et al.
International Society of Systemic Auto-Inflammatory Diseases, Mar 2019, Genes, Italy
Conference poster inserm-03956476v1