Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Solveig Heide
,
Sandra Chantot-Bastaraud
,
Boris Keren
,
Madeleine D Harbison
,
Salah Azzi
,
et al.
Journal articles
hal-02006389v1
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Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis
Caroline Perisson
,
Leila Destruys
,
Dominique Grenet
,
Laurence Bassinet
,
Jocelyne Derelle
,
et al.
Journal articles
hal-03827796v1
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet
,
Laurence Faivre
,
Jeanne Amiel
,
Mathilde Nizon
,
Renaud Touraine
,
et al.
Journal articles
hal-02064139v1
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Diagnostic moléculaire de la dyskinésie ciliaire primitive dans une cohorte tunisienne : identification d’un allèle majeur
Rahma Mani
,
Imed Mabrouk
,
Bruno Copin
,
Florence Dastot - Le Moal
,
Guy Montantin
,
et al.
Assises de Génétique Humaine et Médicale , Jan 2018, Nantes, France
Conference poster
inserm-03952653v1
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Protean proteases: at the cutting edge of lung diseases
Clifford Taggart
,
Marcus Mall
,
Gilles Lalmanach
,
Didier Cataldo
,
Andreas Ludwig
,
et al.
Journal articles
hal-03677244v1
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SP-IGFD : la génétique avant tout ?
Marie Legendre
Colloque Variations de la croissance : du GHD au SP-IGFD , Nov 2018, Paris, France
Conference papers
inserm-03934457v1
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Pulmonary fibrosis and fibrotic predominant interstitial lung diseases (ILD). News in ILD Genetics
Nadia Nathan
ENTeR-chILD COST-action , Nov 2018, Belgrade (Serbia), Serbia
Conference papers
inserm-03934551v1
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Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology , Sep 2018, Athenes, Grece, Greece
Conference papers
inserm-03934333v1
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Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra
Sophie Georgin-Lavialle
,
Katia Stankovic Stojanovic
,
Claude Bachmeyer
,
Jeremie Sellam
,
Salam Abbara
,
et al.
Journal articles
inserm-03837768v1
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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
Jane Lucas
,
Angelo Barbato
,
Samuel Collins
,
Myrofora Goutaki
,
Laura Behan
,
et al.
Journal articles
inserm-03869001v1
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Contribution des mutations des gènes SFTPA1 et SFTPA2 aux pneumopathies interstitielles diffuses et cancers pulmonaires
Nadia Nathan
,
Marie Legendre
,
Caroline Kannengiesser
,
Juliette Albuisson
,
Keren Borensztajn
,
et al.
Assises de Génétique Humaine et Médicale , Jan 2018, Nantes (FR), France
Conference poster
inserm-04121754v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
,
et al.
Journal articles
hal-01502135v1
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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
Rebecca Ryan
,
Marion Failler
,
Madeline Louise Reilly
,
Meriem Garfa-Traoré
,
Marion Delous
,
et al.
Journal articles
inserm-02263788v1
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NLRC4~associated autoinflammatory diseases: A systematic review of the current literature
F. Rodrigues
,
V. Hentgen
,
C. Bachmeyer
,
I. Kone-Paut
,
Alexandre Belot
,
et al.
Journal articles
hal-01953691v1
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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
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Le risque tumoral selon l’étiologie : DAX1, WT1, SF1, SOX9, DGM
Jean-Pierre Siffroi
Journée « ADG et risque tumoral gonadique » , Centre de référence DEV-GEN, Jun 2018, Lyon, France
Conference papers
inserm-04125514v1
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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.
Journal articles
hal-03537187v1
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Abnormal ciliary/flagellar beating in human pathology: Molecular and cellular basis of primary ciliary dyskinesia
Serge Amselem
,
Marie Legendre
Séminaire du centre de recherche , Institut Cochin, Jan 2018, Paris, France
Conference papers
inserm-03934354v1
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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Matthieu Peycelon
,
Lamisse Mansour-Hendili
,
Capucine Hyon
,
Nathalie Collot
,
Muriel Houang
,
et al.
Journal articles
inserm-03837653v1
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National cohort on imprinting disorders and their metabolic consequences (RaDiCo-IDMet)
Eve Klising-Sireul
,
Radico Team
,
Irène Netchine
,
Agnès Linglart
,
Laure Jamot
4th ID school of the Imprinting disorder network , Mar 2017, Behoust, France
Conference papers
inserm-04059036v1
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Genetic causes and clinical management of pediatric interstitial lung diseases
Nadia Nathan
,
Keren Borensztajn
,
Annick Clement
Journal articles
inserm-04016301v1
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Chiara Olcese
,
Mitali Patel
,
Amelia Shoemark
,
Santeri Kiviluoto
,
Marie Legendre
,
et al.
Journal articles
hal-01560951v1
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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.
Journal articles
pasteur-02376257v1
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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.
Conference papers
pasteur-03251879v1
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Place de l’analyse des gènes du surfactant dans la démarche diagnostique des pneumopathies interstitielles diffuses de l’enfant et l’adulte
Nadia Nathan
,
Marie Legendre
,
Raphaël Borie
,
Diane Bouvry
,
Mickael Afanetti
,
et al.
Assises de Génétique Humaine et Médicale , Jan 2018, Nantes (FR), France
Conference poster
inserm-04122009v1
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In situ analysis by SEM-EDX spectroscopy of 10 sarcoidosis cases from MINASARC study
Mickaël Catinon
,
Cécile Chemarin
,
Françoise Thivolet
,
Marianne Kambouchner
,
Jean-François Bernaudin
,
et al.
Journal articles
hal-02366925v1
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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Enzo Cohen
,
Mohamad Maghnie
,
Nathalie Collot
,
Juliane Leger
,
Florence Dastot
,
et al.
Journal articles
inserm-03837720v1
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Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study
I. Kone-Paut
,
P. Quartier
,
O. Fain
,
G. Grateau
,
P. Pillet
,
et al.
Arthritis Care & Research = Arthritis Care and Research , 2017, 69 (6), pp.903 - 911.
⟨10.1002/acr.23083⟩
Journal articles
hal-01810326v1
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Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
Pierre-Antoine Juge
,
Raphaël Borie
,
Caroline Kannengiesser
,
Steven Gazal
,
Patrick Revy
,
et al.
Journal articles
hal-01595463v1
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La fièvre récurrente liée au récepteur 1 du TNF (TNF receptor associated periodic syndrome – TRAPS)
S. Georgin-Lavialle
,
I. Kone-Paut
,
J. Delaleu
,
G. Sarrabay
,
G. Grateau
,
et al.
Journal articles
hal-01846897v1
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