Marie Legendre

Publications

Article dans une revue (82)

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease Camille Louvrier,Tifenn Desroziers,Yohan Soreze,Martha Delgado Rodriguez,Lucie Thomaset al. EBioMedicine, 2025, 113, pp.105626. ⟨10.1016/j.ebiom.2025.105626⟩ Article dans une revue (data paper) inserm-04977533v1
European Respiratory Society and American Thoracic Society guidelines for the diagnosis of Primary Ciliary Dyskinesia Amelia Shoemark,Myrofora Goutaki,Breanna Kinghorn,Cristina Ardura-Garcia,Noelia Baz-Redónet al. European Respiratory Journal, 2025, pp.2500745. ⟨10.1183/13993003.00745-2025⟩ Article dans une revue (data paper) inserm-05290698v1
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity Farah Diab,Camille Louvrier,Marc Fabre,Christine Lin,Mira Rabbaaet al. Journal of Clinical Immunology, 2025, 45 (1), pp.111. ⟨10.1007/s10875-025-01907-w⟩ Article dans une revue (data paper) inserm-05291610v1
Childhood interstitial lung disease survivors in adulthood: a European collaborative study Effrosyni Manali,Matthias Griese,Nadia Nathan,Yurdagül Uzunhan,Raphael Borieet al. European Respiratory Journal, 2025, 65 (2), pp.2400680. ⟨10.1183/13993003.00680-2024⟩ Article dans une revue (data paper) inserm-05292316v1
Penetrance of interstitial lung disease and lung cancer in carriers of SFTPA1 or SFTPA2 pathogenic variants Lucas Ducrot,Nadia Nathan,Patrick Benusiglio,Raphael Borie,Gregory Nuelet al. ERJ Open Research, 2025, 11 (3), pp.01348-02024. ⟨10.1183/23120541.01348-2024⟩ Article dans une revue (data paper) inserm-05291687v1
Surfactant Protein (SP)-A Benefits Over SP-A Mutant: A Preliminary Study for ILD Treatment Tifenn Desroziers,Yohan Soreze,Marie Legendre,Florence Dastot Le Moal,Valérie Nauet al. American Journal of Respiratory Cell and Molecular Biology, 2025, Online ahead of print. ⟨10.1165/rcmb.2024-0546OC⟩ Article dans une revue (data paper) inserm-05295818v1
Interleukin-34 orchestrates bone formation through its binding to Bone Morphogenic Proteins Dominique Heymann,Frédéric Lézot,Javier Muñoz-Garcia,Jorge William Vargas-Franco,Kristina Schiavoneet al. Theranostics, In press, ⟨10.7150/thno.107340⟩ Article dans une revue hal-04901466v1
Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications Aphrodite Daskalopoulou,Eman Assrawi,Farah Diab,Camille Louvrier,Maxime Samsonet al. British Journal of Dermatology, 2025, 193 (5), pp.914-923. ⟨10.1093/bjd/ljaf220⟩ Article dans une revue (data paper) inserm-05291667v1
Molecular Investigation in Early‐Onset Interstitial Lung Disease: Results From 699 Unrelated Patients Camille Louvrier,Nadia Nathan,Vincent Cottin,Tifenn Desroziers,Valérie Nauet al. Respirology, 2025, 31 (1), pp.53-61. ⟨10.1111/resp.70132⟩ Article dans une revue (data paper) inserm-05375209v1
De novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnea of infancy Camille Louvrier,Yohan Soreze,Julie Mesinele,Alix de Becdelièvre,Tifenn Desrozierset al. European Respiratory Journal, 2025, pp.2500777. ⟨10.1183/13993003.00777-2025⟩ Article dans une revue (data paper) inserm-05375249v1
Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency Mathilde Le Brun,Nadia Nathan,Camille Louvrier,Marie Legendre,Severine Feuilletet al. ERJ Open Research, 2025, 11 (2), pp.00701-2024. ⟨10.1183/23120541.00701-2024⟩ Article dans une revue (data paper) inserm-05291768v1
High risk of lung cancer in surfactant-related gene variant carriers Alexandre Brudon,Marie Legendre,Arthur Mageau,Julien Bermudez,Philippe Bonniaudet al. European Respiratory Journal, 2024, 63 (5), pp.2301809. ⟨10.1183/13993003.01809-2023⟩ Article dans une revue hal-04567614v1
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules Daniel O Dodd,Sabrina Mechaussier,Patricia L Yeyati,Fraser Mcphie,Jacob R Andersonet al. Science, 2024, 384 (6694), pp.eadf5489. ⟨10.1126/science.adf5489⟩ Article dans une revue (data paper) inserm-04804407v1
Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant Yohan Soreze,Nadia Nathan,Julien Jegard,Erik Hervieux,Pauline Clermidiet al. Neonatology, 2024, pp.1 - 4. ⟨10.1159/000534076⟩ Article dans une revue (data paper) inserm-04412777v1
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults Rémi Diesler,Marie Legendre,Salim Si-Mohamed,Pierre‐yves Brillet,Lidwine Wemeauet al. Respirology, 2024, 29 (4), pp.312-323. ⟨10.1111/resp.14667⟩ Article dans une revue hal-04454275v1
Skewed X-chromosome inactivation drives the proportion of DNAAF6 -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia Lucie Thomas,Laurence Cuisset,Jean-Francois Papon,Aline Tamalet,Isabelle Pinet al. Journal of Medical Genetics, 2024, pp.jmg-2023-109700. ⟨10.1136/jmg-2023-109700⟩ Article dans une revue (data paper) inserm-04557687v1
NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis Pierre Le Guen,Raphael Borie,Marie Legendre,Clairelyne Dupin,Laetitia Dunogeantet al. ERJ Open Research, 2023, 9 (3), pp.00682-2022. ⟨10.1183/23120541.00682-2022].⟩ Article dans une revue (data paper) inserm-04183925v1
Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives Javier Muñoz-Garcia,Dominique Heymann,Irina Giurgea,Marie Legendre,Serge Amselemet al. Biochemical Pharmacology, 2023, 213, pp.115584. ⟨10.1016/j.bcp.2023.115584⟩ Article dans une revue (article de synthèse) inserm-04100355v1
The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network Julie Cassibba,Ralph Epaud,Laureline Berteloot,Sabrina Aberbache,Lauren Bittonet al. Pediatric Pulmonology, 2023, 59 (2), pp.417-425. ⟨10.1002/ppul.26765⟩ Article dans une revue (data paper) inserm-05292701v1
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis Tifenn Desroziers,Grégoire Prévot,Aurore Coulomb,Valérie Nau,Florence Dastot-Le Moalet al. European Journal of Human Genetics, 2023, 31 (9), pp.1083-1087. ⟨10.1038/s41431-023-01413-w⟩ Article dans une revue (data paper) inserm-04148844v2
Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system Julien Bermudez,Nadia Nathan,Benjamin Coiffard,Antoine Roux,Sandrine Hirschiet al. ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩ Article dans une revue hal-04517578v1
Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study Mihaela Alexandru,Paul de Boissieu,Farida Benoudiba,Malik Moustarhfir,Sookyung Kimet al. Journal of Clinical Medicine, 2022, 11 (17), pp.5163. ⟨10.3390/jcm11175163⟩ Article dans une revue hal-03863866v1
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 Bourgeoiset al. Annals of the American Thoracic Society, 2022, 19 (10), pp.1704-1712. ⟨10.1513/AnnalsATS.202110-1175OC⟩ Article dans une revue inserm-03837091v1
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study Effrosyni D Manali,Caroline Kannengiesser,Raphael Borie,Ibrahima Ba,Demosthenes Bouroset al. Respiration, 2022, 101 (6), pp.531-543. ⟨10.1159/000520657⟩ Article dans une revue inserm-03798564v1
Systemic inflammatory syndrome in children with FARSA deficiency Fabienne Charbit-Henrion,Roman Goguyer-Deschaumes,Keren Borensztajn,Marc Mirande,Jérémy Bertheletet al. Clinical Genetics, 2022, 101 (5-6), pp.552-558. ⟨10.1111/cge.14120⟩ Article dans une revue inserm-03790743v1
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients Imed Mabrouk,Nawal Al-Harthi,Rahma Mani,Guy Montantin,Sylvie Tissieret al. Journal of Human Genetics, 2022, ⟨10.1038/s10038-021-01006-9⟩ Article dans une revue hal-03551986v1
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 Campanaet 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⟩ Article dans une revue inserm-03837029v1
Mosaic variants in TNFRSF1A : an emerging cause of tumour necrosis factor receptor-associated periodic syndrome Eman Assrawi,Camille Louvrier,Elma El Khouri,Jérémie Delaleu,Bruno Copinet al. Rheumatology, 2022, 62 (1), pp.473-479. ⟨10.1093/rheumatology/keac274⟩ Article dans une revue inserm-03837058v1
Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49 Aubin Garcia,Marie Legendre,Sandra Chantot-Bastaraud,Jean Pierre Siffroi,Sophie Christin-Maitre Annales d'Endocrinologie = Annals of Endocrinology, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩ Article dans une revue inserm-03798449v1
Breath holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia Nicole Beydon,Aline Tamalet,Estelle Escudier,Marie Legendre,Guillaume Thouvenin Pediatric Pulmonology, 2021, ⟨10.1002/ppul.25432⟩ Article dans une revue hal-03201639v1
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Amelia Shoemark,Bruna Rubbo,Marie Legendre,Mahmoud Fassad,Eric Haarmanet al. European Respiratory Journal, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩ Article dans une revue inserm-03791242v2
Motile cilia and airway disease Marie Legendre,Laure-Emmanuelle Zaragosi,Hannah Mitchison Seminars in Cell and Developmental Biology, 2021, 110, pp.19-33. ⟨10.1016/j.semcdb.2020.11.007⟩ Article dans une revue inserm-03780781v1
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling Alice Lepelley,Maria José Martin-Niclos,Melvin Le Bihan,Joseph A. Marsh,Carolina Uggentiet al. Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩ Article dans une revue pasteur-02933253v1
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations Camille Louvrier,Eman Assrawi,Elma El Khouri,Isabelle Melki,Bruno Copinet al. Journal of Allergy and Clinical Immunology, 2020, 145 (4), pp.1254-1261. ⟨10.1016/j.jaci.2019.11.035⟩ Article dans une revue inserm-03782874v1
Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD Myrofora Goutaki,Jean-François Papon,Mieke Boon,Carmen Casaulta,Ernst Eberet al. ERJ Open Research, 2020, 6 (1), pp.00237-2019. ⟨10.1183/23120541.00237-2019⟩ Article dans une revue inserm-03798688v1
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria Eman Assrawi,Camille Louvrier,Clémence Lepelletier,Sophie Georgin-Lavialle,Jean-David Bouazizet al. Journal of Investigative Dermatology, 2020, 140, pp.791 - 798.e2. ⟨10.1016/j.jid.2019.06.153⟩ Article dans une revue hal-03489548v1
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia Sylvain Blanchon,Marie Legendre,Mathieu Bottier,Aline Tamalet,Guy Montantinet al. Journal of Medical Genetics, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩ Article dans une revue hal-03093190v1
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer Marie Legendre,Afifaa Butt,Raphaël Borie,Marie-Pierre Debray,Diane Bouvryet al. European Respiratory Journal, 2020, 56 (6), pp.2002806. ⟨10.1183/13993003.02806-2020⟩ Article dans une revue inserm-03794264v2
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study Matthieu Peycelon,Nathalie Lelong,Léa Carlier,M. Francesca Monn,Aliénor de Chaluset al. The Journal of Urology, 2020, 203 (5), pp.1017-1023. ⟨10.1097/JU.0000000000000708⟩ Article dans une revue hal-03009486v1
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage Marie-Louise Frémond,Marie Legendre,Michael Fayon,Annick Clement,Emilie Filhol-Blinet al. Thorax, 2019, pp.thoraxjnl-2019-213892. ⟨10.1136/thoraxjnl-2019-213892⟩ Article dans une revue pasteur-02376257v1
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations Enzo Cohen,Sabrina Belkacem,Soumeya Fedala,Nathalie Collot,Eliane Khalloufet al. Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩ Article dans une revue inserm-03712902v1
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood Effrosyni D Manali,Marie Legendre,Nadia Nathan,Caroline Kannengiesser,Aurore Coulomb-L'Hermineet al. ERJ Open Research, 2019, 5 (3), pp.00066-2019. ⟨10.1183/23120541.00066-2019⟩ Article dans une revue inserm-03798670v1
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis Raphael Borie,Caroline Kannengiesser,Laurent Gouya,Clairelyne Dupin,Serge Amselemet al. Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.280. ⟨10.1186/s13023-019-1256-5⟩ Article dans une revue inserm-03798757v1
COPA syndrome as a cause of lupus nephritis Siham Boulisfane-El Khalifi,Sébastien Viel,Annie Lahoche,Marie-Louise Fremond,Jonathan Lopezet al. Kidney International Reports, 2019, 4 (8), pp.1187-1189. ⟨10.1016/j.ekir.2019.04.014⟩ Article dans une revue hal-02519584v1
Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers Emilie Bequignon,Laurence Dupuy,Virginie Escabasse,Francoise Zerah-Lancner,Laurence Bassinetet al. Journal of Clinical Medicine, 2019, 8 (9), pp.1495. ⟨10.3390/jcm8091495⟩ Article dans une revue hal-02342142v1
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance Ximena Bustamante-Marin,Wei-Ning Yin,Patrick Sears,Michael Werner,Eva Brotslawet al. American Journal of Human Genetics, 2019, 104 (2), pp.229-245. ⟨10.1016/j.ajhg.2018.12.009⟩ Article dans une revue inserm-03780550v1
A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia Antony Terance Benjamin,Ram Ganesh,Balan Louis Gaspar,Jane Lucas,Claire Jacksonet al. Indian Journal of Pediatrics, 2019, 86 (7), pp.664-665. ⟨10.1007/s12098-019-02970-z⟩ Article dans une revue inserm-03798432v1
Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia Emilie Bequignon,Laurence Dupuy,Francoise Zerah-Lancner,Laurence Bassinet,Isabelle Honoréet al. Journal of Clinical Medicine, 2019, 8 (5), pp.619. ⟨10.3390/jcm8050619⟩ Article dans une revue inserm-03794401v1
A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation) Antonin Fattori,Mickael Ohana,Sandrine Hirschi,Romain Kessler,Nicola Santelmoet al. Chest, 2019, 155 (4), pp.e91-e96. ⟨10.1016/j.chest.2018.12.015⟩ Article dans une revue inserm-03782700v1
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia Marjorie Whitfield,Lucie Thomas,Emilie Bequignon,Alain Schmitt,Laurence Stouvenelet al. American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩ Article dans une revue hal-02315263v1
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele Rahma Mani,Sabrina Belkacem,Zohra Soua,Sandra Chantot,Guy Montantinet al. Human Mutation, 2019, 41 (1), pp.115-121. ⟨10.1002/humu.23905⟩ Article dans une revue inserm-03798385v1
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 Delouset al. Human Molecular Genetics, 2018, 27 (2), pp.266-282. ⟨10.1093/hmg/ddx396⟩ Article dans une revue inserm-02263788v1
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes Werner Blum,Jürgen Klammt,Serge Amselem,Heike Pfäffle,Marie Legendreet al. EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩ Article dans une revue inserm-03780612v1
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus Mahmoud R. Fassad,Amelia Shoemark,Marie Legendre,Robert A. Hirst,France Kollet al. American Journal of Human Genetics, 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩ Article dans une revue hal-02178023v1
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 Legendreet al. Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩ Article dans une revue hal-01560951v1
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients Enzo Cohen,Mohamad Maghnie,Nathalie Collot,Juliane Leger,Florence Dastotet al. Journal of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩ Article dans une revue inserm-03837720v1
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia Jane Lucas,Angelo Barbato,Samuel Collins,Myrofora Goutaki,Laura Behanet al. European Respiratory Journal, 2017, 49 (1), pp.1601090. ⟨10.1183/13993003.01090-2016⟩ Article dans une revue inserm-03869001v1
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association Gert Jan Vanaken,Laurence Bassinet,Mieke Boon,Rahma Mani,Isabelle Honoréet al. European Respiratory Journal, 2017, 50 (5), pp.1700314. ⟨10.1183/13993003.00314-2017⟩ Article dans une revue inserm-03837666v1
Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients Salam Abbara,Sophie Georgin-Lavialle,Katia Stankovic Stojanovic,Claude Bachmeyer,Patricia Senetet al. Joint Bone Spine, 2017, 84 (2), pp.159-162. ⟨10.1016/j.jbspin.2016.02.021⟩ Article dans une revue inserm-03837800v1
Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility Elma El Khouri,Lucie Thomas,Ludovic Jeanson,Emilie Bequignon,Benoit Valletteet al. American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩ Article dans une revue inserm-03875562v1
Mutations in GAS8 , a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization Ludovic Jeanson,Lucie Thomas,Bruno Copin,André Coste,Isabelle Sermet-Gaudeluset al. Human Mutation, 2016, 37 (8), pp.776-785. ⟨10.1002/humu.23005⟩ Article dans une revue inserm-03884295v1
Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray Matthew Edwards,Sally Brescianini,Catherine Allgood,Michael Freelander,Richard Dunstanet al. Journal of Paediatrics and Child Health, 2016, 52 (1), pp.85-89. ⟨10.1111/jpc.12981⟩ Article dans une revue istex inserm-03884531v1
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer Nadia Nathan,Violaine Giraud,Clement Picard,Hilario Nunes,Florence Dastot-Le Moalet al. Human Molecular Genetics, 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩ Article dans une revue hal-01459431v1
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes Ludovic Jeanson,Bruno Copin,Jean-François Papon,Florence Dastot-Le Moal,Philippe Duquesnoyet al. American Journal of Human Genetics, 2015, 97 (1), pp.153-162. ⟨10.1016/j.ajhg.2015.05.004⟩ Article dans une revue hal-03829114v1
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency Cecilia Lazea,Paula Grigorescu-Sido,Radu Popp,Marie Legendre,Serge Amselemet al. Journal of Pediatric Endocrinology and Metabolism, 2015, 28 (9-10), pp.993-8. ⟨10.1515/jpem-2014-0289⟩ Article dans une revue hal-03884701v1
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects Esther Kott,Marie Legendre,Bruno Copin,Jean-François Papon,Florence Dastot-Le Moalet al. American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩ Article dans une revue inserm-03887837v1
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia Esther Kott,Philippe Duquesnoy,Bruno Copin,Marie Legendre,Florence Dastot-Le Moalet al. American Journal of Human Genetics, 2012, 91 (5), pp.958-964. ⟨10.1016/j.ajhg.2012.10.003⟩ Article dans une revue inserm-03888655v1
Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities C. Perez,Florence Dastot-Le Moal,N. Collot,M. Legendre,I. Abadieet al. European Journal of Endocrinology, 2012, 167 (1), pp.85-91. ⟨10.1530/EJE-12-0026⟩ Article dans une revue inserm-03888901v1
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia Sylvain Blanchon,Marie Legendre,Bruno Copin,Philippe Duquesnoy,Guy Montantinet al. Journal of Medical Genetics, 2012, 49 (6), pp.410-416. ⟨10.1136/jmedgenet-2012-100867⟩ Article dans une revue istex inserm-03888840v1
Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations Marie-Laure Sobrier,Cécile Brachet,Marie-Pierre Vié-Luton,Christelle Perez,Bruno Copinet al. Journal of Clinical Endocrinology and Metabolism, 2012, 97 (3), pp.E503-E509. ⟨10.1210/jc.2011-2095⟩ Article dans une revue inserm-03889540v1
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies Andrée Delahaye,Pierre Bitoun,Séverine Drunat,Marion Gérard-Blanluet,Nicolas Chassainget al. European Journal of Human Genetics, 2012, 20 (5), pp.527-533. ⟨10.1038/ejhg.2011.233⟩ Article dans une revue inserm-03889622v1
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs Anne-Christine Merveille,Erica Davis,Anita Becker-Heck,Marie Legendre,Israel Amiravet al. Nature Genetics, 2011, 43 (1), pp.72-78. ⟨10.1038/ng.726⟩ Article dans une revue inserm-03894583v1
Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation-Case Report Zeynep Şıklar,Merih Berberoğlu,Maria Legendre,Serge Amselem,Olcay Evliyaoğlu Journal of Clinical Research in Pediatric Endocrinology, 2010, 2 (4), pp.164-167. ⟨10.4274/jcrpe.v2i4.164⟩ Article dans une revue inserm-03894227v1
Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia Philippe Duquesnoy,Estelle Escudier,Laetitia Vincensini,Judy Freshour,Anne-Marie Bridouxet al. American Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩ Article dans une revue inserm-03894697v1
Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor Jacques Pantel,Marie Legendre,Sylvie Nivot,Séverine Morisset,Marie Vie-Lutonet al. Journal of Clinical Endocrinology and Metabolism, 2009, 94 (11), pp.4334-4341. ⟨10.1210/jc.2009-1327⟩ Article dans une revue hal-02081574v1
Y-chromosome AZFc structural architecture and relationship to male fertility Celia Ravel,Sandra Chantot-Bastaraud,Brahim El Houate,Hassan Rouba,Marie Legendreet al. Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩ Article dans une revue (data paper) inserm-04133897v1
Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco Ilham Ratbi,Emmanuelle Génin,Marie Legendre,Annick Le Floch,Catherine Costaet al. Journal of Cystic Fibrosis, 2008, 7 (5), pp.440-443. ⟨10.1016/j.jcf.2007.12.006⟩ Article dans une revue (data paper) inserm-04134264v1
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling Ilham Ratbi,Marie Legendre,Florence Niel,Josiane Martin,Jean-Claude Soufiret al. Human Reproduction, 2007, 22 (5), pp.1285-1291. ⟨10.1093/humrep/dem024⟩ Article dans une revue (data paper) inserm-04134297v1
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype Jérôme Clain,Jacqueline Lehmann-Che,Ingrid Duguépéroux,Nicole Arous,Emmanuelle Girodonet al. Human Mutation, 2005, 25 (4), pp.360-371. ⟨10.1002/humu.20156⟩ Article dans une revue (data paper) inserm-04134373v1
TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport Shian-Huey Chiang,Joseph Hwang,Marie Legendre,Mei Zhang,Akiko Kimuraet al. EMBO Journal, 2003, 22 (11), pp.2679-2691. ⟨10.1093/emboj/cdg262⟩ Article dans une revue (data paper) inserm-04134605v1
Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations Dimitri Tchernitchko,Marie Legendre,Andrée Delahaye,Cécile Cazeneuve,Florence Nielet al. Clinical Chemistry, 2003, 49 (11), pp.1942-1945. ⟨10.1373/clinchem.2003.021212⟩ Article dans une revue (data paper) inserm-04134539v1
The E148QMEFV allele is not implicated in the development of familial Mediterranean fever Dimitri Tchernitchko,Marie Legendre,Cecile Cazeneuve,Andrée Delahaye,Florence Nielet al. Human Mutation, 2003, 22 (4), pp.339-340. ⟨10.1002/humu.9182⟩ Article dans une revue (data paper) inserm-04134480v1

Communication dans un congrès (33)

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease Camille Louvrier,Tifenn Desroziers,Yohan Soreze,Martha Delgado Rodriguez,Lucie Thomaset al. European Respiratory Society, Sep 2025, Amsterdam, Netherlands Communication dans un congrès inserm-05296299v1
Functional Characterization of Known and Novel NLRC4 variants in Autoinflammatory Diseases Farah Diab,Desiree Grandi,Aphrodite Daskalopoulou,Camille Louvrier,Eman Assrawiet al. Euorpean Human Genetics, May 2025, Milano (Italy), France Communication dans un congrès inserm-05123294v1
Investigations génétiques des pneumopathies interstitielles diffuses de l’enfant et de l’adulte jeune Camille Louvrier,Raphaël Borie,Valérie NAU,Tifenn Desroziers,Florence Dastot - Le Moalet al. Congrès de pneunomologie de langue française, Jan 2024, Marseille, France Communication dans un congrès inserm-04918649v1
SPA restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2 Tifenn Desroziers,Yohan Soreze-Smagghue,Serge Amselem,Florence Dastot - Le Moal,Valérie NAUet al. Congrès de Pneumologie de Langue Française, Jan 2024, Lille, France Communication dans un congrès inserm-04424030v1
Mini-symposium : Genetics in paediatric respiratory diseases. Basics of genetic diagnostics Marie Legendre European Respiratory Society International congress, Sep 2023, Milano, Italy Communication dans un congrès inserm-04882593v1
Relations phénotype-génotype dans la dyskinésie ciliaire primitive. Marie Legendre 3ème Jeudi de Génétique, Jan 2023, en ligne, France Communication dans un congrès inserm-04119496v1
Basics of genetic diagnostics Marie Legendre European Respiratory Society, Sep 2023, Milan (Italie), Italy Communication dans un congrès inserm-04208235v1
Acinar dysplasia in a full-term newborn with a NKX2.1 variant Yohan Soreze,Nadia Nathan,Julien Jegard,Erik Hervieux,Pauline Clermidiet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Communication dans un congrès inserm-04222542v1
Nouveautés dans la génétique des dyskinésies ciliaires primitives Marie Legendre Journée annuelle de l’association des patients ayant une dyskinésie ciliaire primitive (ADCP), Sep 2022, Lyon, France Communication dans un congrès inserm-04119538v1
uORF-creating-mutations in Van der Woude syndrome: why it is important to study 5’UTRs Magalie Lodin,Julie Galimand,Florence Dastot - Le Moal,Bruno Copin,Sandra Mercieret al. Assises de Génétique, Feb 2022, Rennes (FR), France Communication dans un congrès inserm-03922478v1
TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella Lucie Thomas,Khaled Bouhouche,Marjorie Whitfield,Guillaume Thouvenin,André Costeet al. Assises de Génétique, Feb 2022, Rennes (FR), France Communication dans un congrès inserm-03922541v1
Challenges of genetic diagnosis Marie Legendre PCD Fundation Scientific Conference, Aug 2022, en ligne, France Communication dans un congrès inserm-04121006v1
Nouveautés dans la Génétique des dyskinésies ciliaires primitives Marie Legendre Journée du CRMR des maladies respiratoires rares (RespiRare), Jan 2021, En ligne (Paris), France Communication dans un congrès inserm-04155014v1
Genetics for PCD diagnosis - basics and pitfalls Marie Legendre ECR-PCD Expert talk series, Jul 2021, En ligne, France Communication dans un congrès inserm-04161497v1
Besoins en formation en génétique. Marie Legendre AG du Collège National des Enseignants et Praticiens de Génétique Médicale (CNEPGM), Jan 2021, Paris, France Communication dans un congrès inserm-04157099v1
Les mutations de DNAH17 causent une infertilité isolée par asthénospermie par défaut d’une dynéine axonémale spécifique du flagelle des spermatozoïdes Lucie Thomas,Marjorie Whitfield,Émilie Béquignon,Alain Schmitt,Laurence Stouvenelet al. Assises de génétique humaine et médicale, Jan 2020, Tours, France Communication dans un congrès inserm-03951614v1
Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen. Rahma Mani,Sabrina Belkacem,Zohra Soua,Sandra Chantot-Bastaraud,Guy Montantinet al. Assises de Génétique Humaine et Médicale, Jan 2020, Tours (France), France Communication dans un congrès inserm-03952243v1
Genetics and Genomics of Cilia and Mucus Biology, Discussion leader Marie Legendre Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy Communication dans un congrès inserm-04155886v1
Mutation en mosaïque de NLRP3 dans des urticaires neutrophiliques avec fièvre : une nouvelle entité. Eman Assrawi,Camille Louvrier,Clémence Lepelletier,Sophie Georgin-Lavialle,Jean-David Bouazizet al. Journées dermatologiques de Paris, Dec 2019, Paris, France Communication dans un congrès inserm-03945084v1
Positioning of genetics in the PCD diagnostic pathway Marie Legendre 4th BEAT-PCD Conference and 5th PCD Training School, Mar 2019, Poznan (Pologne), Poland Communication dans un congrès inserm-04155876v1
Abnormal ciliary/flagellar beating in human pathology: Molecular and cellular basis of primary ciliary dyskinesia Marie Legendre,Estelle Escudier cole thématique du GDR Cil, Jun 2019, Sete, France Communication dans un congrès inserm-04157186v1
Place de la génétique dans le diagnostic des DCP Marie Legendre Séminaire Dyskinésie ciliaire primitive, Jun 2019, Creteil, France Communication dans un congrès inserm-04157171v1
Les algorithmes diagnostiques de la DCP. Marie Legendre,Aline Tamalet Congrès de Pneumologie et d’Allergologie pédiatrique, Nov 2019, Paris, France Communication dans un congrès inserm-04155608v1
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 Communication dans un congrès inserm-03934354v1
Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer. Nadia Nathan,Marie Legendre,Emilie Filhol-Blin,Raphaël Borie,Diane Bouvryet al. uropean Respiratory Society (ERS) Congress,, Sep 2018, Paris, France Communication dans un congrès inserm-04157591v1
SP-IGFD : la génétique avant tout ? Marie Legendre Colloque Variations de la croissance : du GHD au SP-IGFD, Nov 2018, Paris, France Communication dans un congrès inserm-03934457v1
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 Khalloufet al. 57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece Communication dans un congrès inserm-03934333v1
Contribution of mutations in genes of the surfactant system to idiopathic interstitial pneumonia (IIP) Nadia Nathan,Marie Legendre,Emilie Filhol-Blin,Raphael Borie,Diane Bouvryet al. ERS International Congress 2018 abstracts, Sep 2018, Paris, France. pp.OA547, ⟨10.1183/13993003.congress-2018.OA547⟩ Communication dans un congrès hal-02438688v1
Déficits isolés en hormone de croissance : épidémiologie moléculaire, validation fonctionnelle et corrélations génotype-phénotype Marie Legendre Journées d’Endocrinologie pédiatriques, Institut Pasteur, Jan 2018, Paris, France Communication dans un congrès inserm-03934345v1
Contribution of SFTPA2 mutations to interstitial lung disease (ILD) and lung cancer in a cohort of 131 unrelated ILD patients Nadia Nathan,Marie Legendre,Caroline Kannengiesser,J Albuisson,Raphaël Borieet al. European Human Genetics Conference (EHGC), May 2017, Copenhagen, Denmark Communication dans un congrès inserm-04158320v1
Genetic Heterogeneity in PCD: Efficiency and Limitations of NGS-Based Approaches Marie Legendre Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2017, Galveston, TX, United States Communication dans un congrès inserm-04125414v1
SFTPA mutations in interstitial lung disease (ILD) and lung cancer Nadia Nathan,Marie Legendre,Caroline Kannengiesser,J Albuisson,Raphaël Borieet al. European Respiratory Society (ERS) Congress, Sep 2017, London, United Kingdom Communication dans un congrès inserm-04157848v1
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia Marie Legendre,Sylvain Blanchon,Bruno Copin,Philippe Duquesnoy,Guy Montantinet al. First International Cilia in Development and Disease Scientific Conference, May 2012, Londres, United Kingdom. pp.P91 Communication dans un congrès inserm-00752969v1

Poster de conférence (44)

Exploring Mosaic NLRP3 Variants: From Chronic Urticaria to Neonatal Autoinflammatory Disease Aphrodite Daskalopoulou,Eman Assrawi,Farah Diab,Rafaella Piccoli,Camille Louvrieret al. European Human Genectics, May 2025, Milano (Italy), France Poster de conférence inserm-05123276v1
Deciphering the pathogenicity of NKX2.1 variants in ultra-severe forms of childhood interstitial lung diseases Yohan Soreze,Tifenn Desroziers-Louedec,Aurore Carré,Farah Diab,Aphrodite Daskalopoulouet al. European Respiratory Society, Sep 2025, Amsterdam, Netherlands Poster de conférence inserm-05296155v1
Molecular investigation in early-onset interstitial lung disease: results from 699 unrelated patients Cohort of patients Camille Louvrier,Nadia Nathan,Vincent Cottin,Tifenn Desroziers,Valérie Nauet al. European Respiratory Society, Sep 2025, Amsterdam, Netherlands Poster de conférence inserm-05296143v1
SFTPA1 and SFTPA2 defects associated with interstitial lung disease are not always missense variations, a chILDEU study Tifenn Desroziers,Yohan Soreze,Valérie NAU,Bruno Crestani,David Drummondet al. ERS 2025 - European respiratory Society, Sep 2025, Amsterdam, Netherlands Poster de conférence inserm-05296112v1
Analyse fonctionnelle de variants de NKX2-1 associés à des phénotypes respiratoires ultra-sévères Yohan Soreze,Tifenn Desroziers,Aurore Carré,Farah Diab,Aphrodite Daskalopoulouet al. Congrès de pneumologie de langue française, Jan 2024, Marseille, France Poster de conférence inserm-04919038v1
Les anomalies de SFTPA1 et SFTPA2 associées aux pneumopathies interstitielles ne sont pas toujours des mutations faux sens. Tifenn Desroziers,Yohann Soreze,Valérie NAU,Bruno Crestani,David Drummondet al. Congrès de Pneumologie de Langue Française, Jan 2024, Marseille, France Poster de conférence inserm-04918612v1
Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations Eman Assrawi,Elma El Khouri,Camille Louvrier,William Piterboth,Florence Dastot Le Moalet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Poster de conférence inserm-04412198v1
SP-A restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2 Tifenn Desroziers,Yohan Soreze,Serge Amselem,Florence Dastot Le Moal,Valérie Nauet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Poster de conférence inserm-04405049v1
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia Lucie Thomas,Laurence Cuisset,Jean-François Papon,Aline Tamalet,Isabelle Pinet al. Cilia, Sep 2024, Dublin (IR), Ireland Poster de conférence inserm-04687511v1
Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte Tifenn Desroziers,Grégoire Prévot,Aurore Coulomb,Valérie Nau,Florence Dastot-Le Moalet al. Congrès de Pneumologie de Langue Française, Jan 2024, Lille (France), France Poster de conférence inserm-04423950v1
Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations Eman Assrawi,Elma El Khouri,Camille Louvrier,William Piterboth,Florence Dastot Le Moalet al. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany Poster de conférence inserm-04674708v1
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia Lucie Thomas,Laurence Cuisset,Jean-François Papon,Aline Tamalet,Isabelle Pinet al. The European Society of Human Genetics, Jun 2024, Berlin (DE), Germany Poster de conférence inserm-04614713v1
Dysplasie acineuse associée à un variant de NKX2.1 chez un nouveau-né à terme Yohan Soreze,Nadia Nathan,Julien Jegard,Erik Hervieux,Pauline Clermidiet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Poster de conférence inserm-04412720v1
Hypomorphic mutation in SFTPB leads to adult pulmonary fibrosis Tifenn Desroziers,Grégoire Prévot,Aurore Coulomb,Valérie Nau,Florence Dastot-Le Moalet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04208358v1
Phenotypic characterization of interstitial lung disease associated with mutations in SFTPC and ABCA3 in adults Rémi Diesler,Marie Legendre,Salim Aymeric Si-Mohamed,Pierre-Yves Brillet,Lidwine Wemeauet al. European respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04218447v1
Clinical problems in rare interstitial lung diseases Camille Fletcher,Alice Hadchouel,Caroline Thumerelle,Manon Fleury,Nouha Jedidiet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04220204v1
Lung biopsies in infants and children in critical care situation Yael Levy,Lauren Bitton,Chiara Sileo,Jérôme Rambaud,Yohan Sorezeet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04218471v1
The value of multidisciplinary team meetings MDTm ) in the diagnosis and management of childhood interstitial lung disease (chILD) among the RespiRare network Julie Cassibba,Ralph Epaud,Laureline Berteloot,Sabrina Aberbache,Lauren Bittonet al. European Respiratory society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04208180v1
The value of multidisciplinary team meetings MDTm ) in the diagnosis and management of childhood interstitial lung disease (chILD) among the RespiRare network Julie Cassibba,Ralph Epaud,Laureline Berteloot,Sabrina Aberbache,Lauren Bittonet al. European Respiratory Society, Sep 2023, Milan (Italie), France Poster de conférence inserm-04212186v1
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration. Suzanne Crowley,William Hankey,Marwa Elnagheeb,Rahma Mani,Maria-Ines Benitoet al. european respiratory society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04210979v1
Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes Manon Fleury,Alice Hadchouel,Harriet Corvol,Julie Mazenq,Jean-Christophe Dubuset al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04212335v1
Efficacity and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency Mathilde Le Brun,Nadia Nathan,Marie Legendre,Justine Frija-Masson,Mwetty Onangaet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04213469v1
WT SP-A restores abnormal oligomerization and secretion of mutant SFTPA1 and SFTPA2 Tifenn Desroziers,Yohan Soreze,Camille Fletcher,Serge Amselem,Florence Dastot Le Moalet al. European Respiratory Society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04208375v1
Somatic mosaic mutation in TNFRSF1A as a cause of Tumor necrosis factor receptor-associated periodic syndrome- Impact on genetic counselling Eman Assrawi,Jérémie Delaleu,Camille Louvrier,Elma El Khouri,Bruno Copinet al. Assises de Génétique, Feb 2022, Rennes, France Poster de conférence inserm-03922669v1
Premières mutations homozygotes de SFTPB associées à des formes viables à l’âge adulte de fibrose pulmonaire Tifenn Desroziers,Gregoire Prevot,Aurore Coulomb,Valérie NAU,Philippe Duquesnoyet al. Assises de Génétique, Feb 2022, Rennes (FR), France Poster de conférence inserm-03934063v1
Bénéfice risque des biopsies pulmonaires réalisées en situation aiguë en réanimation pédiatrique Lauren Bitton,Yael Levy,Jérôme Rambaud,Yohan Soreze,Pierre-Louis Légeret al. Congrès de Pneumologie et d’Allergologie, 2022, Paris, France Poster de conférence inserm-04158901v1
uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs Magalie Lodin,Julie Galimand,Florence Dastot - Le Moal,Bruno Copin,Sandra Mercieret al. European Society of Human Genetics, Jun 2022, Vienne, Austria Poster de conférence inserm-03922101v1
TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella Lucie Thomas,Khaled Bouhouche,Marjorie Whitfield,Guillaume Thouvenin,André Costeet al. ESHG 2022, Jun 2022, Vienne, Austria Poster de conférence inserm-03845363v1
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 Maximoet al. EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany Poster de conférence inserm-04121439v1
Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar Rahma Mani,Mafalda Gomes,Adrián Rodríguez González,Claire Hogg,Deborah Morris-Rosendahlet al. ERS International Congress 2021, in session “Prediction of exacerbations in patients with COPD”, Sep 2021, Online, United Kingdom. European Respiratory Society, pp.PA3458, ⟨10.1183/13993003.congress-2021.PA3458⟩ Poster de conférence inserm-04121677v2
Fibrose pulmonaire et pathogénicité de la mutation p.Val178Met de SFTPA1/SFTPA2 Nadia Nathan,Valérie NAU,Tifenn Desroziers,Mélanie Héry,Emilie Filhol-Blinet al. Assises de Génétique Humaine et Médicale, Feb 2020, Tours (FR), France Poster de conférence inserm-04122433v1
Anomalies de développement pulmonaire et mutations bi-alléliques de SFTPB Nadia Nathan,Valérie NAU,Tifenn Desroziers,Mélanie Héry,Emilie Filhol-Blinet al. Assises de Génétique Humaine et Médicale, Feb 2020, Tours, France Poster de conférence inserm-04160327v1
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 Despertet al. ISSAID, Mar 2019, Genes, Italy Poster de conférence inserm-03952891v1
Heterozygous mutations in COPA are associated with enhanced type I interferon signalling Marie-Louise Frémond,Alice Lepelley,Carolina Uggenti,Maria José Martin-Niclos,Marine Deppet al. International Society of Systemic Auto-Inflammatory Diseases, Mar 2019, Genes, Italy Poster de conférence inserm-03956476v1
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance Ximena Bustamante-Marin,Wei-Ning Yin,Patrick Sears,Michael Werner,Eva Brotslawet al. Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy Poster de conférence inserm-04159224v1
Novel OTX2 gene mutations causing combined pituitary hormone deficiency without ocular anomalies. Oliver Heath,Melissa C. Edwards,Himanshu Goel,Marie Legendre,Serge Amselemet al. Australasian Paediatric Endocrine Group Annual Scientific Meeting, Sep 2019, Adelaide, SA, Australia Poster de conférence inserm-04164968v1
Fetal and post-natal growth are impaired in children with deletions of the GH1 gene: description of a cohort of 14 patients. European Society for Paediatric E Darvish,Marie Legendre,Irène Netchine,Serge Amselem,Frédéric Brioude Endocrinology 58th Annual Meeting, Sep 2019, Vienna, Austria Poster de conférence inserm-04159171v1
Clinical characteristics, puberty pattern and adult or near-adult-height data in a group of patients with growth failure due to severe primary IGF-1 deficiency (GROWPATI study). Athanasia Stoupa,Christine Lorraud,Isabelle Flechtner,Magali Viaud,Graziella Pintoet al. European Society for Paediatric Endocrinology 58th Annual Meeting, Sep 2019, Vienna, Austria Poster de conférence inserm-04163446v1
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 Afanettiet al. Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France Poster de conférence inserm-04122009v1
Contribution des mutations du gène GHRHR aux déficits isolés en hormone de croissance non syndromiques dans une large cohorte de 313 patients indépendants Sabrina Belkacem,Enzo Cohen,Soumeya Fedala,Nathalie Collot,Eliane Khalloufet al. Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France Poster de conférence inserm-03952757v1
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 Montantinet al. Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France Poster de conférence inserm-03952653v1
Contribution des mutations des gènes SFTPA1 et SFTPA2 aux pneumopathies interstitielles diffuses et cancers pulmonaires Nadia Nathan,Marie Legendre,Caroline Kannengiesser,Juliette Albuisson,Keren Borensztajnet al. Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France Poster de conférence inserm-04121754v1
Lung disease caused by non-null ABCA3 mutations: long-term follow-up Effrosyni D Manali,Nadia Nathan,Caroline Kannengiesser,Pericles Tomos,Aurore Coulomb-L'Hermineet al. European Respiratory Society congress, Sep 2018, Paris, France Poster de conférence inserm-04160422v1
Neuroendocrine cell hyperplasia of infancy (NEHI): a specific entity? Safaa Asmandar,Nadia Nathan,Sabah Boudjemaa,Fiorella Calabrese,Rodrigo Ramirezet al. Pediatric Pathology Society meeting, Apr 2018, Paris, France Poster de conférence inserm-04160581v1

Chapitre d'ouvrage (1)

Interstitial lung diseases in the neonatal period Yohan Soreze,Chiara Sileo,Aurore Coulomb l'Hermine,Marie Legendre,Nadia Nathan Respiratory Diseases of the Newborn Infant, European Respiratory Society, pp.213-230, 2021, ⟨10.1183/2312508X.10014520].⟩ Chapitre d'ouvrage hal-04557348v1