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Marie Legendre

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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 Wemeau
Respirology, 2024, 29 (4), pp.312-323. ⟨10.1111/resp.14667⟩
Journal articles hal-04454275v1
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Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant

Yohan Soreze , Nadia Nathan , Julien Jegard , Erik Hervieux , Pauline Clermidi
Neonatology, 2024, pp.1 - 4. ⟨10.1159/000534076⟩
Journal articles inserm-04412777v1
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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 Pin
Journal of Medical Genetics, 2024, pp.jmg-2023-109700. ⟨10.1136/jmg-2023-109700⟩
Journal articles inserm-04557687v1

High risk of lung cancer in surfactant-related gene variant carriers

Alexandre Brudon , Marie Legendre , Arthur Mageau , Julien Bermudez , Philippe Bonniaud
European Respiratory Journal, 2024, pp.2301809. ⟨10.1183/13993003.01809-2023⟩
Journal articles hal-04567614v1
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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 Dunogeant
ERJ Open Research, 2023, 9 (3), pp.00682-2022. ⟨10.1183/23120541.00682-2022].⟩
Journal articles inserm-04183925v1

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 Hirschi
ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩
Journal articles hal-04517578v1
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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 Amselem
Biochemical Pharmacology, 2023, 213, pp.115584. ⟨10.1016/j.bcp.2023.115584⟩
Journal articles inserm-04100355v1
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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
European Journal of Human Genetics, 2023, 31 (9), pp.1083-1087. ⟨10.1038/s41431-023-01413-w⟩
Journal articles inserm-04148844v2
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Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study

Mihaela Alexandru , Paul de Boissieu , Farida Benoudiba , Malik Moustarhfir , Sookyung Kim
Journal of Clinical Medicine, 2022, 11 (17), pp.5163. ⟨10.3390/jcm11175163⟩
Journal articles hal-03863866v1
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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 Tissier
Journal of Human Genetics, 2022, ⟨10.1038/s10038-021-01006-9⟩
Journal articles hal-03551986v1
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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, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩
Journal articles inserm-03798449v1
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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 Copin
Rheumatology, 2022, 62 (1), pp.473-479. ⟨10.1093/rheumatology/keac274⟩
Journal articles inserm-03837058v1

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
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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Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study

Effrosyni D Manali , Caroline Kannengiesser , Raphael Borie , Ibrahima Ba , Demosthenes Bouros
Respiration, 2022, 101 (6), pp.531-543. ⟨10.1159/000520657⟩
Journal articles inserm-03798564v1
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Systemic inflammatory syndrome in children with FARSA deficiency

Fabienne Charbit-Henrion , Roman Goguyer-Deschaumes , Keren Borensztajn , Marc Mirande , Jérémy Berthelet
Clinical Genetics, 2022, 101 (5-6), pp.552-558. ⟨10.1111/cge.14120⟩
Journal articles inserm-03790743v1
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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
Annals of the American Thoracic Society, 2022, 19 (10), pp.1704-1712. ⟨10.1513/AnnalsATS.202110-1175OC⟩
Journal articles inserm-03837091v1

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⟩
Journal articles inserm-03780781v1
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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⟩
Journal articles hal-03201639v1
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Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Amelia Shoemark , Bruna Rubbo , Marie Legendre , Mahmoud Fassad , Eric Haarman
European Respiratory Journal, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩
Journal articles inserm-03791242v2
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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 Uggenti
Journal of Experimental Medicine, 2020, 217 (11), pp.e20200600. ⟨10.1084/jem.20200600⟩
Journal articles pasteur-02933253v1
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Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

Eman Assrawi , Camille Louvrier , Clémence Lepelletier , Sophie Georgin-Lavialle , Jean-David Bouaziz
Journal of Investigative Dermatology, 2020, 140, pp.791 - 798.e2. ⟨10.1016/j.jid.2019.06.153⟩
Journal articles 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 Montantin
Journal of Medical Genetics, 2020, 57 (4), pp.237-244. ⟨10.1136/jmedgenet-2019-106424⟩
Journal articles hal-03093190v1
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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 Bouvry
European Respiratory Journal, 2020, 56 (6), pp.2002806. ⟨10.1183/13993003.02806-2020⟩
Journal articles 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 Chalus
Journal of Urology, 2020, 203 (5), pp.1017-1023. ⟨10.1097/JU.0000000000000708⟩
Journal articles hal-03009486v1
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Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Myrofora Goutaki , Jean-François Papon , Mieke Boon , Carmen Casaulta , Ernst Eber
ERJ Open Research, 2020, 6 (1), pp.00237-2019. ⟨10.1183/23120541.00237-2019⟩
Journal articles inserm-03798688v1
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NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Camille Louvrier , Eman Assrawi , Elma El Khouri , Isabelle Melki , Bruno Copin
Journal of Allergy and Clinical Immunology, 2020, 145 (4), pp.1254-1261. ⟨10.1016/j.jaci.2019.11.035⟩
Journal articles inserm-03782874v1

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

Marie-Louise Frémond , Marie Legendre , Michael Fayon , Annick Clement , Emilie Filhol-Blin
Thorax, 2019, pp.thoraxjnl-2019-213892. ⟨10.1136/thoraxjnl-2019-213892⟩
Journal articles pasteur-02376257v1
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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 Stouvenel
American Journal of Human Genetics, 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩
Journal articles hal-02315263v1

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

Rahma Mani , Sabrina Belkacem , Zohra Soua , Sandra Chantot , Guy Montantin
Human Mutation, 2019, 41 (1), pp.115-121. ⟨10.1002/humu.23905⟩
Journal articles inserm-03798385v1
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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'Hermine
ERJ Open Research, 2019, 5 (3), pp.00066-2019. ⟨10.1183/23120541.00066-2019⟩
Journal articles inserm-03798670v1
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Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Raphael Borie , Caroline Kannengiesser , Laurent Gouya , Clairelyne Dupin , Serge Amselem
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.280. ⟨10.1186/s13023-019-1256-5⟩
Journal articles inserm-03798757v1
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COPA syndrome as a cause of lupus nephritis

Siham Boulisfane-El Khalifi , Sébastien Viel , Annie Lahoche , Marie-Louise Fremond , Jonathan Lopez
Kidney International Reports, 2019, 4 (8), pp.1187-1189. ⟨10.1016/j.ekir.2019.04.014⟩
Journal articles hal-02519584v1
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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 Khallouf
Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩
Journal articles inserm-03712902v1
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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 Santelmo
Chest, 2019, 155 (4), pp.e91-e96. ⟨10.1016/j.chest.2018.12.015⟩
Journal articles inserm-03782700v1
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Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia

Emilie Bequignon , Laurence Dupuy , Francoise Zerah-Lancner , Laurence Bassinet , Isabelle Honoré
Journal of Clinical Medicine, 2019, 8 (5), pp.619. ⟨10.3390/jcm8050619⟩
Journal articles inserm-03794401v1

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

Antony Terance Benjamin , Ram Ganesh , Balan Louis Gaspar , Jane Lucas , Claire Jackson
Indian Journal of Pediatrics, 2019, 86 (7), pp.664-665. ⟨10.1007/s12098-019-02970-z⟩
Journal articles inserm-03798432v1
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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 Bassinet
Journal of Clinical Medicine, 2019, 8 (9), pp.1495. ⟨10.3390/jcm8091495⟩
Journal articles hal-02342142v1
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Ximena Bustamante-Marin , Wei-Ning Yin , Patrick Sears , Michael Werner , Eva Brotslaw
American Journal of Human Genetics, 2019, 104 (2), pp.229-245. ⟨10.1016/j.ajhg.2018.12.009⟩
Journal articles inserm-03780550v1
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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 Legendre
EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩
Journal articles inserm-03780612v1

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

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 Koll
American Journal of Human Genetics, 2018, 103 (6), pp.984--994. ⟨10.1016/j.ajhg.2018.10.016⟩
Journal articles 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 Legendre
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Journal articles hal-01560951v1

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 Senet
Joint Bone Spine, 2017, 84 (2), pp.159-162. ⟨10.1016/j.jbspin.2016.02.021⟩
Journal articles inserm-03837800v1

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

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

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

Gert Jan Vanaken , Laurence Bassinet , Mieke Boon , Rahma Mani , Isabelle Honoré
European Respiratory Journal, 2017, 50 (5), pp.1700314. ⟨10.1183/13993003.00314-2017⟩
Journal articles inserm-03837666v1

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

Enzo Cohen , Mohamad Maghnie , Nathalie Collot , Juliane Leger , Florence Dastot
Journal of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
Journal articles inserm-03837720v1

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 Vallette
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
Journal articles 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-Gaudelus
Human Mutation, 2016, 37 (8), pp.776-785. ⟨10.1002/humu.23005⟩
Journal articles inserm-03884295v1

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray

Matthew Edwards , Sally Brescianini , Catherine Allgood , Michael Freelander , Richard Dunstan
Journal of Paediatrics and Child Health, 2016, 52 (1), pp.85-89. ⟨10.1111/jpc.12981⟩
Journal articles inserm-03884531v1

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer

Nadia Nathan , Violaine Giraud , Clement Picard , Hilario Nunes , Florence Dastot-Le Moal
Human Molecular Genetics, 2016, 25 (8), pp.1457-1467. ⟨10.1093/hmg/ddw014⟩
Journal articles 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 Duquesnoy
American Journal of Human Genetics, 2015, 97 (1), pp.153-162. ⟨10.1016/j.ajhg.2015.05.004⟩
Journal articles 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 Amselem
Journal of Pediatric Endocrinology and Metabolism, 2015, 28 (9-10), pp.993-8. ⟨10.1515/jpem-2014-0289⟩
Journal articles 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 Moal
American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩
Journal articles inserm-03887837v1

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

Andrée Delahaye , Pierre Bitoun , Séverine Drunat , Marion Gérard-Blanluet , Nicolas Chassaing
European Journal of Human Genetics, 2012, 20 (5), pp.527-533. ⟨10.1038/ejhg.2011.233⟩
Journal articles inserm-03889622v1

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 Copin
Journal of Clinical Endocrinology and Metabolism, 2012, 97 (3), pp.E503-E509. ⟨10.1210/jc.2011-2095⟩
Journal articles inserm-03889540v1

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 Moal
American Journal of Human Genetics, 2012, 91 (5), pp.958-964. ⟨10.1016/j.ajhg.2012.10.003⟩
Journal articles 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. Abadie
European Journal of Endocrinology, 2012, 167 (1), pp.85-91. ⟨10.1530/EJE-12-0026⟩
Journal articles inserm-03888901v1

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon , Marie Legendre , Bruno Copin , Philippe Duquesnoy , Guy Montantin
Journal of Medical Genetics, 2012, 49 (6), pp.410-416. ⟨10.1136/jmedgenet-2012-100867⟩
Journal articles inserm-03888840v1

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 Amirav
Nature Genetics, 2011, 43 (1), pp.72-78. ⟨10.1038/ng.726⟩
Journal articles 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⟩
Journal articles 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 Bridoux
American Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩
Journal articles inserm-03894697v1
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Y-chromosome AZFc structural architecture and relationship to male fertility

Celia Ravel , Sandra Chantot-Bastaraud , Brahim El Houate , Hassan Rouba , Marie Legendre
Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩
Journal articles inserm-04133897v1

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

Jacques Pantel , Marie Legendre , Sylvie Nivot , Séverine Morisset , Marie Vie-Luton
Journal of Clinical Endocrinology and Metabolism, 2009, 94 (11), pp.4334-4341. ⟨10.1210/jc.2009-1327⟩
Journal articles hal-02081574v1
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Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco

Ilham Ratbi , Emmanuelle Génin , Marie Legendre , Annick Le Floch , Catherine Costa
Journal of Cystic Fibrosis, 2008, 7 (5), pp.440-443. ⟨10.1016/j.jcf.2007.12.006⟩
Journal articles inserm-04134264v1
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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 Soufir
Human Reproduction, 2007, 22 (5), pp.1285-1291. ⟨10.1093/humrep/dem024⟩
Journal articles inserm-04134297v1
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Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype

Jérôme Clain , Jacqueline Lehmann-Che , Ingrid Duguépéroux , Nicole Arous , Emmanuelle Girodon
Human Mutation, 2005, 25 (4), pp.360-371. ⟨10.1002/humu.20156⟩
Journal articles inserm-04134373v1
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TCGAP, a multidomain Rho GTPase-activating protein involved in insulin-stimulated glucose transport

Shian-Huey Chiang , Joseph Hwang , Marie Legendre , Mei Zhang , Akiko Kimura
EMBO Journal, 2003, 22 (11), pp.2679-2691. ⟨10.1093/emboj/cdg262⟩
Journal articles inserm-04134605v1
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The E148QMEFV allele is not implicated in the development of familial Mediterranean fever

Dimitri Tchernitchko , Marie Legendre , Cecile Cazeneuve , Andrée Delahaye , Florence Niel
Human Mutation, 2003, 22 (4), pp.339-340. ⟨10.1002/humu.9182⟩
Journal articles inserm-04134480v1
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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 Niel
Clinical Chemistry, 2003, 49 (11), pp.1942-1945. ⟨10.1373/clinchem.2003.021212⟩
Journal articles inserm-04134539v1

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 NAU
Congrès de Pneumologie de Langue Française, Jan 2024, Lille, France
Conference papers inserm-04424030v1

Relations phénotype-génotype dans la dyskinésie ciliaire primitive.

Marie Legendre
3ème Jeudi de Génétique, Jan 2023, en ligne, France
Conference papers inserm-04119496v1

Basics of genetic diagnostics

Marie Legendre
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference papers inserm-04208235v1

Acinar dysplasia in a full-term newborn with a NKX2.1 variant

Yohan Soreze , Nadia Nathan , Julien Jegard , Erik Hervieux , Pauline Clermidi
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference papers 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
Conference papers 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 Mercier
Assises de Génétique, Feb 2022, Rennes (FR), France
Conference papers inserm-03922478v1

Challenges of genetic diagnosis

Marie Legendre
PCD Fundation Scientific Conference, Aug 2022, en ligne, France
Conference papers inserm-04121006v1

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 Coste
Assises de Génétique, Feb 2022, Rennes (FR), France
Conference papers inserm-03922541v1

Nouveautés dans la Génétique des dyskinésies ciliaires primitives

Marie Legendre
Journée du CRMR des maladies respiratoires rares (RespiRare), Jan 2021, En ligne (Paris), France
Conference papers inserm-04155014v1
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Genetics for PCD diagnosis - basics and pitfalls

Marie Legendre
ECR-PCD Expert talk series, Jul 2021, En ligne, France
Conference papers 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
Conference papers inserm-04157099v1

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 Montantin
Assises de Génétique Humaine et Médicale, Jan 2020, Tours (France), France
Conference papers inserm-03952243v1

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 Stouvenel
Assises de génétique humaine et médicale, Jan 2020, Tours, France
Conference papers inserm-03951614v1

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
Conference papers inserm-04157186v1

Place de la génétique dans le diagnostic des DCP

Marie Legendre
Séminaire Dyskinésie ciliaire primitive, Jun 2019, Creteil, France
Conference papers inserm-04157171v1

Les algorithmes diagnostiques de la DCP.

Marie Legendre , Aline Tamalet
Congrès de Pneumologie et d’Allergologie pédiatrique, Nov 2019, Paris, France
Conference papers inserm-04155608v1

Genetics and Genomics of Cilia and Mucus Biology, Discussion leader

Marie Legendre
Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy
Conference papers 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 Bouaziz
Journées dermatologiques de Paris, Dec 2019, Paris, France
Conference papers 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
Conference papers inserm-04155876v1

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

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

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
57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece
Conference papers 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 Bouvry
ERS International Congress 2018 abstracts, Sep 2018, Paris, France. pp.OA547, ⟨10.1183/13993003.congress-2018.OA547⟩
Conference papers 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
Conference papers inserm-03934345v1

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 Bouvry
uropean Respiratory Society (ERS) Congress,, Sep 2018, Paris, France
Conference papers inserm-04157591v1

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 Borie
European Human Genetics Conference (EHGC), May 2017, Copenhagen, Denmark
Conference papers inserm-04158320v1

SFTPA mutations in interstitial lung disease (ILD) and lung cancer

Nadia Nathan , Marie Legendre , Caroline Kannengiesser , J Albuisson , Raphaël Borie
European Respiratory Society (ERS) Congress, Sep 2017, London, United Kingdom
Conference papers inserm-04157848v1

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
Conference papers inserm-04125414v1
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Marie Legendre , Sylvain Blanchon , Bruno Copin , Philippe Duquesnoy , Guy Montantin
First International Cilia in Development and Disease Scientific Conference, May 2012, Londres, United Kingdom. pp.P91
Conference papers inserm-00752969v1
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Dysplasie acineuse associée à un variant de NKX2.1 chez un nouveau-né à terme

Yohan Soreze , Nadia Nathan , Julien Jegard , Erik Hervieux , Pauline Clermidi
Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France
Conference poster inserm-04412720v1
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Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations

Eman Assrawi , Elma El Khouri , Camille Louvrier , William Piterboth , Florence Dastot Le Moal
Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France
Conference poster inserm-04412198v1
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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 Nau
Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France
Conference poster inserm-04405049v1
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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 Moal
Congrès de Pneumologie de Langue Française, Jan 2024, Lille (France), France
Conference poster inserm-04423950v1
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Hypomorphic mutation in SFTPB leads to adult pulmonary fibrosis

Tifenn Desroziers , Grégoire Prévot , Aurore Coulomb , Valérie Nau , Florence Dastot-Le Moal
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04208358v1
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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 Onanga
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04213469v1
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WT SP-A restores abnormal oligomerization and secretion of mutant SFTPA1 and SFTPA2

Tifenn Desroziers , Yohan Soreze , Camille Fletcher , Serge Amselem , Florence Dastot Le Moal
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04208375v1
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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 Dubus
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04212335v1
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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 Wemeau
European respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04218447v1
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Lung biopsies in infants and children in critical care situation

Yael Levy , Lauren Bitton , Chiara Sileo , Jérôme Rambaud , Yohan Soreze
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04218471v1
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Clinical problems in rare interstitial lung diseases

Camille Fletcher , Alice Hadchouel , Caroline Thumerelle , Manon Fleury , Nouha Jedidi
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04220204v1
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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 Bitton
European Respiratory Society, Sep 2023, Milan (Italie), France
Conference poster inserm-04212186v1
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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 Bitton
European Respiratory society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04208180v1
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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 Benito
european respiratory society, Sep 2023, Milan (Italie), Italy
Conference poster inserm-04210979v1

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 Coste
ESHG 2022, Jun 2022, Vienne, Austria
Conference poster inserm-03845363v1

Bénéfice risque des biopsies pulmonaires réalisées en situation aiguë en réanimation pédiatrique

Lauren Bitton , Yael Levy , Jérôme Rambaud , Yohan Soreze , Pierre-Louis Léger
Congrès de Pneumologie et d’Allergologie, 2022, Paris, France
Conference poster 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 Mercier
European Society of Human Genetics, Jun 2022, Vienne, Austria
Conference poster inserm-03922101v1
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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
7ème journée annuelle de la filière de santé des maladies respiratoires rares, Sep 2022, Paris, France
Conference poster inserm-04121677v1
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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
EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany
Conference poster inserm-04121439v1

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 Duquesnoy
Assises de Génétique, Feb 2022, Rennes (FR), France
Conference poster inserm-03934063v1

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 Copin
Assises de Génétique, Feb 2022, Rennes, France
Conference poster inserm-03922669v1

Fibrose pulmonaire et pathogénicité de la mutation p.Val178Met de SFTPA1/SFTPA2

Nadia Nathan , Valérie NAU , Tifenn Desroziers , Mélanie Héry , Emilie Filhol-Blin
Assises de Génétique Humaine et Médicale, Feb 2020, Tours (FR), France
Conference poster inserm-04122433v1

Anomalies de développement pulmonaire et mutations bi-alléliques de SFTPB

Nadia Nathan , Valérie NAU , Tifenn Desroziers , Mélanie Héry , Emilie Filhol-Blin
Assises de Génétique Humaine et Médicale, Feb 2020, Tours, France
Conference poster 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 Despert
ISSAID, Mar 2019, Genes, Italy
Conference poster inserm-03952891v1

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Ximena Bustamante-Marin , Wei-Ning Yin , Patrick Sears , Michael Werner , Eva Brotslaw
Gordon Research Conference. Cilia, Mucus and Mucociliary Interactions, Feb 2019, Lucca, Italy
Conference poster inserm-04159224v1

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
International Society of Systemic Auto-Inflammatory Diseases, Mar 2019, Genes, Italy
Conference poster inserm-03956476v1

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
Conference poster 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 Pinto
European Society for Paediatric Endocrinology 58th Annual Meeting, Sep 2019, Vienna, Austria
Conference poster inserm-04163446v1

Novel OTX2 gene mutations causing combined pituitary hormone deficiency without ocular anomalies.

Oliver Heath , Melissa C. Edwards , Himanshu Goel , Marie Legendre , Serge Amselem
Australasian Paediatric Endocrine Group Annual Scientific Meeting, Sep 2019, Adelaide, SA, Australia
Conference poster inserm-04164968v1

Neuroendocrine cell hyperplasia of infancy (NEHI): a specific entity?

Safaa Asmandar , Nadia Nathan , Sabah Boudjemaa , Fiorella Calabrese , Rodrigo Ramirez
Pediatric Pathology Society meeting, Apr 2018, Paris, France
Conference poster inserm-04160581v1

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
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
Conference poster 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 Borensztajn
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster 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'Hermine
European Respiratory Society congress, Sep 2018, Paris, France
Conference poster inserm-04160422v1

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 Khallouf
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster inserm-03952757v1

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
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster inserm-04122009v1