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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 of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩
Journal articles hal-02006389v1

Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis

Caroline Perisson , Leila Destruys , Dominique Grenet , Laurence Bassinet , Jocelyne Derelle , et al.
Respiratory Medicine, 2017, 133 (2), pp.12-15. ⟨10.1016/j.rmed.2017.11.007⟩
Journal articles hal-03827796v1

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 of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1

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

Protean proteases: at the cutting edge of lung diseases

Clifford Taggart , Marcus Mall , Gilles Lalmanach , Didier Cataldo , Andreas Ludwig , et al.
European Respiratory Journal, 2017, 49 (2), pp.1501200. ⟨10.1183/13993003.01200-2015⟩
Journal articles hal-03677244v1

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

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

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

Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra

Sophie Georgin-Lavialle , Katia Stankovic Stojanovic , Claude Bachmeyer , Jeremie Sellam , Salam Abbara , et al.
Rheumatology, 2017, 56 (1), pp.167-169. ⟨10.1093/rheumatology/kew290⟩
Journal articles inserm-03837768v1

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane Lucas , Angelo Barbato , Samuel Collins , Myrofora Goutaki , Laura Behan , et al.
European Respiratory Journal, 2017, 49 (1), pp.1601090. ⟨10.1183/13993003.01090-2016⟩
Journal articles inserm-03869001v1

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

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.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Journal articles hal-01502135v1

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.
Human Molecular Genetics, 2018, 27 (2), pp.266-282. ⟨10.1093/hmg/ddx396⟩
Journal articles inserm-02263788v1

NLRC4~associated autoinflammatory diseases: A systematic review of the current literature

F. Rodrigues , V. Hentgen , C. Bachmeyer , I. Kone-Paut , Alexandre Belot , et al.
La Revue de Médecine Interne, 2018, 39 (4), pp.279-286. ⟨10.1016/j.revmed.2018.02.003⟩
Journal articles hal-01953691v1

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

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

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

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

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

Matthieu Peycelon , Lamisse Mansour-Hendili , Capucine Hyon , Nathalie Collot , Muriel Houang , et al.
Sexual Development, 2018, 11 (5-6), pp.293-297. ⟨10.1159/000485909⟩
Journal articles inserm-03837653v1

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

Genetic causes and clinical management of pediatric interstitial lung diseases

Nadia Nathan , Keren Borensztajn , Annick Clement
Current Opinion in Pulmonary Medicine, 2018, 24 (3), pp.253-259. ⟨10.1097/MCP.0000000000000471⟩
Journal articles inserm-04016301v1

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.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Journal articles hal-01560951v1

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


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

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

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.
European Respiratory Journal, 2017, volume 50, issue suppl 61. ⟨10.1183/1393003.congress-2017.PA3263⟩
Journal articles hal-02366925v1

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 of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
Journal articles inserm-03837720v1

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

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.
European Respiratory Journal, 2017, 49 (5), ⟨10.1183/13993003.02314-2016⟩
Journal articles hal-01595463v1

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.
La Revue de Médecine Interne, 2018, 39 (4), pp.256 - 264. ⟨10.1016/j.revmed.2018.02.002⟩
Journal articles hal-01846897v1