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Marie Legendre

133
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Publications

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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-04557687v1
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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⟩
Article dans une revue hal-04454275v1
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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⟩
Article dans une revue inserm-04100355v1

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⟩
Article dans une revue hal-04517578v1
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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].⟩
Article dans une revue 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⟩
Article dans une revue hal-04474756v1
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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⟩
Article dans une revue inserm-04148844v2
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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03837058v1
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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⟩
Article dans une revue hal-03863866v1

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⟩
Article dans une revue inserm-03837029v1
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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⟩
Article dans une revue hal-03551986v1
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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⟩
Article dans une revue inserm-03798564v1
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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⟩
Article dans une revue inserm-03837091v1
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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⟩
Article dans une revue inserm-03790743v1

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
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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⟩
Article dans une revue inserm-03791242v2
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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⟩
Article dans une revue hal-03201639v1
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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⟩
Article dans une revue hal-03489548v1
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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⟩
Article dans une revue pasteur-02933253v1

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⟩
Article dans une revue hal-03009486v1

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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03794264v2
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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03782874v1
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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⟩
Article dans une revue inserm-03712902v1

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⟩
Article dans une revue inserm-03798385v1
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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⟩
Article dans une revue hal-02315263v1
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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03794401v1

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⟩
Article dans une revue pasteur-02376257v1
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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⟩
Article dans une revue hal-02342142v1

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⟩
Article dans une revue inserm-03798432v1
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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⟩
Article dans une revue inserm-03780550v1
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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⟩
Article dans une revue inserm-03798757v1
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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⟩
Article dans une revue inserm-03798670v1
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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⟩
Article dans une revue hal-02519584v1

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⟩
Article dans une revue hal-02178023v1
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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⟩
Article dans une revue 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⟩
Article dans une revue inserm-02263788v1

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⟩
Article dans une revue inserm-03869001v1

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⟩
Article dans une revue inserm-03837800v1

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⟩
Article dans une revue hal-01560951v1

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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03837720v1

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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03884531v1

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⟩
Article dans une revue inserm-03875562v1

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⟩
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 Duquesnoy
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 Amselem
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 Moal
American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue inserm-03889540v1

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⟩
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 Montantin
Journal of Medical Genetics, 2012, 49 (6), pp.410-416. ⟨10.1136/jmedgenet-2012-100867⟩
Article dans une revue inserm-03888840v1

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⟩
Article dans une revue inserm-03888655v1

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⟩
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 Bridoux
American Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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⟩
Article dans une revue 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
Communication dans un congrès inserm-04424030v1

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 Clermidi
European Respiratory Society, Sep 2023, Milan (Italie), Italy
Communication dans un congrès inserm-04222542v1

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 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 Mercier
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 Coste
Assises de Génétique, Feb 2022, Rennes (FR), France
Communication dans un congrès 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
Communication dans un congrès 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
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

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
Communication dans un congrès 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
Communication dans un congrès 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
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

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

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 Bouaziz
Journées dermatologiques de Paris, Dec 2019, Paris, France
Communication dans un congrès inserm-03945084v1

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 Khallouf
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 Bouvry
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

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 Bouvry
uropean Respiratory Society (ERS) Congress,, Sep 2018, Paris, France
Communication dans un congrès inserm-04157591v1

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
Communication dans un congrès inserm-04157848v1

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
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
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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
Communication dans un congrès inserm-00752969v1
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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
Poster de conférence 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
Poster de conférence inserm-04405049v1
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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
Poster de conférence inserm-04412720v1
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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
Poster de conférence inserm-04423950v1
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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
Poster de conférence 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
Poster de conférence 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
Poster de conférence inserm-04220204v1
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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
Poster de conférence inserm-04208375v1
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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
Poster de conférence inserm-04213469v1
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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
Poster de conférence inserm-04212335v1
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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
Poster de conférence inserm-04208358v1
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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
Poster de conférence inserm-04212186v1
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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
Poster de conférence inserm-04210979v1
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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
Poster de conférence inserm-04208180v1

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
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 Mercier
European Society of Human Genetics, Jun 2022, Vienne, Austria
Poster de conférence 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
Poster de conférence 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
Poster de conférence inserm-04121439v1

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
Poster de conférence inserm-03845363v1

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
Poster de conférence 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
Poster de conférence inserm-03922669v1

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
Poster de conférence inserm-04160327v1

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
Poster de conférence inserm-04122433v1

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
Poster de conférence 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
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 Pinto
European Society for Paediatric Endocrinology 58th Annual Meeting, Sep 2019, Vienna, Austria
Poster de conférence inserm-04163446v1

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
Poster de conférence inserm-03952891v1

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
Poster de conférence inserm-04164968v1

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
Poster de conférence inserm-04159224v1

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
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 Borensztajn
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'Hermine
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 Ramirez
Pediatric Pathology Society meeting, Apr 2018, Paris, France
Poster de conférence inserm-04160581v1

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
Poster de conférence 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
Poster de conférence inserm-04122009v1