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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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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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How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

Mathias Schwartz , Damien Sternberg , Sandra Whalen , Alexandra Afenjar , Arnaud Isapof , et al.
American Journal of Medical Genetics Part A, 2023, 176 (1), pp.151-155. ⟨10.1002/ajmg.a.38515⟩
Journal articles inserm-03851530v1

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

Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network

Elisa Deflorenne , Michel Peuchmaur , Delphine Vezzosi , Christiane Ajzenberg , Laurent Brunaud , et al.
European Journal of Endocrinology, 2023, 185 (4), pp.463 - 474. ⟨10.1530/eje-20-1049⟩
Journal articles inserm-04042575v1
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The European research collaboration for Children's Interstitial Lung Disease (ChILDEU) ERS Clinical Research Collaboration

Steve Cunningham , Carlee Gilbert , Nico Schwerk
European Respiratory Journal, 2023, 52 (6), pp.1801855. ⟨10.1183/13993003.01855-2018⟩
Journal articles inserm-04041102v1
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Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Lucas Bouys , Anna Vaczlavik , Anne Jouinot , Patricia Vaduva , Stéphanie Espiard , et al.
European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩
Journal articles hal-03982784v1
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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

Long-term evolution of neuroendocrine cell hyperplasia of infancy: the FRENCHI findings

Morgane Dervaux , Caroline Thumerelle , Candice Fabre , Rola Abou-Taam , Tiphaine Bihouee , et al.
European Journal of Pediatrics, 2023, 182 (2), pp.949-956. ⟨10.1007/s00431-022-04734-y⟩
Journal articles hal-04003922v1

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

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

Maladies interstitielles pulmonaires de l’enfant d’origine génétique

N. Nathan
Other publications inserm-04099919v1

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
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin , Emilie Landais , Céline Poirsier , Alexandra Afenjar , Ahmad Akhavi , et al.
American Journal of Medical Genetics Part A, 2023, 191 (2), pp.445-458. ⟨10.1002/ajmg.a.63041⟩
Journal articles hal-03899297v1

Systemic inflammatory trunk recurrent acute macular eruption ( SITRAME ): A new auto‐inflammatory syndrome in adult?

Angèle Soria , Emmanuelle Amsler , Bethsabée Garel , Philippe Moguelet , Nathalie Tieulié , et al.
Journal of the European Academy of Dermatology and Venereology, 2023, 37 (4), pp.e538-e542. ⟨10.1111/jdv.18771⟩
Journal articles hal-03991553v1
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Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults

Marion Delplanque , Antoine Fayand , Guilaine Boursier , Gilles Grateau , Léa Savey , et al.
Journal articles hal-03923209v1
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Role of non-invasive methods in detecting liver impairment in familial Mediterranean fever adult patients with persistent hepatic cytolysis

Samuel Deshayes , Thibault Fraisse , Soraya Fellahi , Olivier Steichen , Léa Savey , et al.
Scientific Reports, 2022, 12 (1), pp.16644. ⟨10.1038/s41598-022-17358-x⟩
Journal articles inserm-03874714v1
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Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Spyros Papiris , Caroline Kannengiesser , Raphael Borie , Lykourgos Kolilekas , Maria Kallieri , et al.
Diagnostics, 2022, 12 (12), pp.2928. ⟨10.3390/diagnostics12122928⟩
Journal articles inserm-04015679v1
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The recurrent TCF4 missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

Bernt Popp , Thierry Bienvenu , Irina Giurgea , Julia Metreau , Cornelia Kraus , et al.
Clinical Genetics, 2022, 102 (6), pp.517-523. ⟨10.1111/cge.14206⟩
Journal articles inserm-03874919v1

OPALE: A patient registry for Laminopathies and Emerinopathies in France.

Rabah Ben Yaou , Frédéric Anselme , Annachiara de Sandre-Giovannoli , Emmanuelle Campanna-Salort , Philippe Charron , et al.
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference poster hal-04003074v1
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COVID‐19 and pediatric pulmonology: feedback from an expert center after the first year of the pandemic

Harriet Corvol , Blandine Prevost , Guillaume Aubertin , Guillaume Thouvenin , Jessica Taytard , et al.
Pediatric Pulmonology, 2022, ⟨10.1002/ppul.26235⟩
Journal articles hal-03855165v1

The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature.

Marie Legendre , Xavier Darde , Marion Ferreira , Sandra Chantot-Bastaraud , Marion Campana , et al.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders, 2022, 39 (2), pp.e2022019. ⟨10.36141/svdld.v39i2.12730⟩
Journal articles inserm-03837029v1

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
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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
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Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

Amelia Shoemark , Rahma Mani , Mafalda Gomes , Adrian Gonzales R. , Sun Maximo , et al.
EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany
Conference poster inserm-04121439v1

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
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Prevalence and characteristics of gonadoblastoma in a retrospective multi-centre study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype

Daphné Karila , Bruno Donadille , Juliane Leger , Claire Bouvattier , Anne Bachelot , et al.
European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩
Journal articles inserm-03851939v1

Une hyperandrogénie chez la femme ménopausée : origine ovarienne ou origine surrénalienne ?

J. Sarfati , M. Moraillon-Bougerolle , S. Christin-Maitre
Gynécologie Obstétrique Fertilité & Sénologie, 2022, 50 (10), pp.675 - 681. ⟨10.1016/j.gofs.2022.05.002⟩
Journal articles inserm-04042352v1
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Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

Rahma Mani , Mafalda Gomes , Adrián González , Claire Hogg , Deborah J. Morris-Rosendahl , et al.
7ème journée annuelle de la filière de santé des maladies respiratoires rares, Sep 2022, Paris, France
Conference poster inserm-04121677v1
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De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

Camille Louvrier , Elma El Khouri , Martine Grall Lerosey , Pierre Quartier , Anne‐marie Guerrot , et al.
Arthritis & rheumatology, 2022, Online ahead of print. ⟨10.1002/art.42354⟩
Journal articles inserm-03836992v1