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
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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.
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.
Journal articles
inserm-03851530v1
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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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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.
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
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.
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.
Journal articles
inserm-04016668v1
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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.
Journal articles
hal-04003922v1
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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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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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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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Maladies interstitielles pulmonaires de l’enfant d’origine génétique
N. Nathan
Other publications
inserm-04099919v1
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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.
Journal articles
hal-03899297v1
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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.
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.
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.
Journal articles
inserm-03874919v1
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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.
Journal articles
hal-03855165v1
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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
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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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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
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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
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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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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.
Journal articles
inserm-03851939v1
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Une hyperandrogénie chez la femme ménopausée : origine ovarienne ou origine surrénalienne ?
J. Sarfati
,
M. Moraillon-Bougerolle
,
S. Christin-Maitre
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.
Journal articles
inserm-03836992v1
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