| Year |
Citation |
Score |
| 2024 |
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Theou-Anton N, et al. High risk of lung cancer in surfactant-related gene variant carriers. The European Respiratory Journal. PMID 38575158 DOI: 10.1183/13993003.01809-2023 |
0.47 |
|
| 2024 |
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, ... ... Legendre M, et al. Skewed X-chromosome inactivation drives the proportion of -defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. Journal of Medical Genetics. PMID 38408845 DOI: 10.1136/jmg-2023-109700 |
0.545 |
|
| 2024 |
Diesler R, Legendre M, Si-Mohamed S, Brillet PY, Wemeau L, Manali ED, Gagnadoux F, Hirschi S, Lorillon G, Reynaud-Gaubert M, Bironneau V, Blanchard E, Bourdin A, Dominique S, Justet A, et al. Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. Respirology (Carlton, Vic.). PMID 38345107 DOI: 10.1111/resp.14667 |
0.469 |
|
| 2023 |
Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N. Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis. European Journal of Human Genetics : Ejhg. PMID 37380697 DOI: 10.1038/s41431-023-01413-w |
0.527 |
|
| 2023 |
Le Guen P, Borie R, Legendre M, Dupin C, Dunogeant L, Ottaviani S, Debray MP, Cazes A, Dieudé P, Kannengiesser C, Crestani B. mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis. Erj Open Research. 9. PMID 37228267 DOI: 10.1183/23120541.00682-2022 |
0.308 |
|
| 2023 |
Muñoz-Garcia J, Heymann D, Giurgea I, Legendre M, Amselem S, Castañeda B, Lézot F, William Vargas-Franco J. Pharmacological options in the treatment of osteogenesis imperfecta: a comprehensive review of clinical and potential alternatives. Biochemical Pharmacology. 115584. PMID 37148979 DOI: 10.1016/j.bcp.2023.115584 |
0.448 |
|
| 2022 |
Legendre M, Darde X, Ferreira M, Chantot-Bastaraud S, Campana M, Plantier L, Nathan N, Amselem S, Toutain A, Diot P, Marchand-Adam S. 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. Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog. 39: e2022019. PMID 36118545 DOI: 10.36141/svdld.v39i2.12730 |
0.581 |
|
| 2022 |
Assrawi E, Louvrier C, El-Khouri E, Delaleu J, Copin B, Dastot-Le Moal F, Piterboth W, Legendre M, Karabina SA, Grateau G, Amselem S, Giurgea I. Mosaic variants in TNFRSF1A: An emerging cause of tumor necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford, England). PMID 35640127 DOI: 10.1093/rheumatology/keac274 |
0.471 |
|
| 2022 |
Legendre M, Thouvenin G, Taytard J, Baron M, Le Bourgeois M, Tamalet A, Mani R, Jouvion G, Amselem S, Escudier E, Beydon N. High Nasal Nitric Oxide, Cilia Analyses and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. Annals of the American Thoracic Society. PMID 35622418 DOI: 10.1513/AnnalsATS.202110-1175OC |
0.411 |
|
| 2022 |
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, et al. Systemic inflammatory syndrome in children with FARSA deficiency. Clinical Genetics. PMID 35132614 DOI: 10.1111/cge.14120 |
0.318 |
|
| 2022 |
Manali ED, Kannengiesser C, Borie R, Ba I, Bouros D, Markopoulou A, Antoniou K, Kolilekas L, Papaioannou AI, Tzilas V, Tzouvelekis A, Daniil Z, Fouka E, Papakosta D, Xyfteri A, ... ... Legendre M, et al. Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration; International Review of Thoracic Diseases. 1-13. PMID 35078193 DOI: 10.1159/000520657 |
0.532 |
|
| 2022 |
Garcia A, Legendre M, Chantot-Bastaraud S, Siffroi JP, Christin-Maitre S. Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49. Annales D'Endocrinologie. PMID 35065919 DOI: 10.1016/j.ando.2022.01.003 |
0.364 |
|
| 2022 |
Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, ... ... Legendre M, et al. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. Journal of Human Genetics. PMID 35046476 DOI: 10.1038/s10038-021-01006-9 |
0.676 |
|
| 2021 |
Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, Bon ICM, Brandsma J, Burgel PR, Carlsson G, Carr SB, Carroll M, Edwards M, Escudier E, Honoré I, et al. Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. The European Respiratory Journal. PMID 33479112 DOI: 10.1183/13993003.02359-2020 |
0.375 |
|
| 2020 |
Legendre M, Zaragosi LE, Mitchison HM. Motile cilia and airway disease. Seminars in Cell & Developmental Biology. PMID 33279404 DOI: 10.1016/j.semcdb.2020.11.007 |
0.332 |
|
| 2020 |
Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, Héry M, Duquesnoy P, Allou N, Bergeron A, Bermudez J, et al. Functional assessment and phenotypic heterogeneity of and mutations in interstitial lung diseases and lung cancer. The European Respiratory Journal. PMID 32855221 DOI: 10.1183/13993003.02806-2020 |
0.691 |
|
| 2020 |
Lepelley A, Martin-Niclós MJ, Le Bihan M, Marsh JA, Uggenti C, Rice GI, Bondet V, Duffy D, Hertzog J, Rehwinkel J, Amselem S, Boulisfane-El Khalifi S, Brennan M, Carter E, Chatenoud L, ... ... Legendre M, et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. The Journal of Experimental Medicine. 217. PMID 32725128 DOI: 10.1084/Jem.20200600 |
0.619 |
|
| 2020 |
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, ... ... Legendre M, et al. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. American Journal of Human Genetics. PMID 31978331 DOI: 10.1016/J.Ajhg.2019.12.010 |
0.705 |
|
| 2019 |
Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, et al. NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations. The Journal of Allergy and Clinical Immunology. PMID 31816408 DOI: 10.1016/J.Jaci.2019.11.035 |
0.799 |
|
| 2019 |
Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, ... ... Legendre M, et al. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis. Orphanet Journal of Rare Diseases. 14: 280. PMID 31796085 DOI: 10.1186/S13023-019-1256-5 |
0.529 |
|
| 2019 |
Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, ... ... Legendre M, et al. The NLRP3 p.A441V Mutation in -AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event. Acr Open Rheumatology. 1: 267-276. PMID 31777803 DOI: 10.1002/acr2.1039 |
0.783 |
|
| 2019 |
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, et al. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. Journal of Medical Genetics. PMID 31772028 DOI: 10.1136/Jmedgenet-2019-106424 |
0.563 |
|
| 2019 |
Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, et al. Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage. Thorax. PMID 31666386 DOI: 10.1136/Thoraxjnl-2019-213892 |
0.603 |
|
| 2019 |
Bequignon E, Dupuy L, Escabasse V, Zerah-Lancner F, Bassinet L, Honoré I, Legendre M, Devars du Mayne M, Crestani B, Escudier E, Coste A, Papon JF, Maître B. Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers. Journal of Clinical Medicine. 8. PMID 31546861 DOI: 10.3390/Jcm8091495 |
0.305 |
|
| 2019 |
Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, ElKhouri E, Copin B, Duquesnoy P, ... Legendre M, et al. Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria. The Journal of Investigative Dermatology. PMID 31513803 DOI: 10.1016/J.Jid.2019.06.153 |
0.806 |
|
| 2019 |
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Le Gouard NR, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, ... ... Legendre M, et al. Primary ciliary dyskinesia gene contribution in Tunisia-identification of a major Mediterranean allele. Human Mutation. PMID 31469207 DOI: 10.1002/Humu.23905 |
0.689 |
|
| 2019 |
Boulisfane-El Khalifi S, Viel S, Lahoche A, Frémond ML, Lopez J, Lombard C, Dubos F, Reumaux H, Gnemmi V, Legendre M, Crow YJ, Thumerelle C, Belot A. COPA Syndrome as a Cause of Lupus Nephritis. Kidney International Reports. 4: 1187-1189. PMID 31440710 DOI: 10.1016/J.Ekir.2019.04.014 |
0.471 |
|
| 2019 |
Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. Bi-allelic missense mutations in a patient with childhood ILD who reached adulthood. Erj Open Research. 5. PMID 31360696 DOI: 10.1183/23120541.00066-2019 |
0.674 |
|
| 2019 |
Majdoub H, Amselem S, Legendre M, Rath S, Bercovich D, Tenenbaum-Rakover Y. Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to Mutation. Frontiers in Endocrinology. 10: 381. PMID 31316460 DOI: 10.3389/Fendo.2019.00381 |
0.659 |
|
| 2019 |
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, ... ... Legendre M, et al. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Human Mutation. PMID 31231873 DOI: 10.1002/Humu.23847 |
0.721 |
|
| 2019 |
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, ... ... Legendre M, et al. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. American Journal of Human Genetics. PMID 31178125 DOI: 10.1016/J.Ajhg.2019.04.015 |
0.646 |
|
| 2019 |
Benjamin AT, Ganesh R, Gaspar BL, Lucas J, Jackson C, Legendre M, Mani R, Escudier E. A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia. Indian Journal of Pediatrics. PMID 31089940 DOI: 10.1007/S12098-019-02970-Z |
0.507 |
|
| 2019 |
Bequignon E, Dupuy L, Zerah-Lancner F, Bassinet L, Honoré I, Legendre M, Devars du Mayne M, Escabasse V, Crestani B, Maître B, Escudier E, Coste A, Papon JF. Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia. Journal of Clinical Medicine. 8. PMID 31067752 DOI: 10.3390/Jcm8050619 |
0.338 |
|
| 2019 |
Fattori A, Ohana M, Hirschi S, Kessler R, Santelmo N, Nathan N, Chenard MP, Raymond S, Legendre M, Calabrese F. A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation). Chest. 155: e91-e96. PMID 30955586 DOI: 10.1016/J.Chest.2018.12.015 |
0.36 |
|
| 2019 |
Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. American Journal of Human Genetics. PMID 30665704 DOI: 10.1016/J.Ajhg.2018.12.009 |
0.602 |
|
| 2019 |
Fremond M, Lepelley A, Uggenti C, Martin-Niclos MJ, Depp M, Bondet V, Duffy D, Rice GI, Brennan M, Thumerelle C, Boulisfane S, Legendre M, Amselem S, Molina T, Nathan N, et al. Op0107 Heterozygous Mutations In Copa Are Associated With Enhanced Type I Interferon Signalling Annals of the Rheumatic Diseases. 78: 127-127. DOI: 10.1136/Annrheumdis-2019-Eular.4158 |
0.626 |
|
| 2018 |
Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, et al. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. American Journal of Human Genetics. PMID 30471717 DOI: 10.1016/J.Ajhg.2018.10.016 |
0.685 |
|
| 2018 |
Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB, Deal CL, Lebl J, Rosenfeld RG, et al. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes. Ebiomedicine. PMID 30266296 DOI: 10.1016/J.Ebiom.2018.09.026 |
0.685 |
|
| 2018 |
Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP. Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 29332064 DOI: 10.1159/000485909 |
0.607 |
|
| 2018 |
Manali ED, Nathan N, Kannengiesser C, Tomos P, Coulomb-L’Hermine A, Korkolopoulou P, Foukas PG, Kolilekas L, Kagouridis K, Maniati M, Argentos S, Korbila I, Tomos IP, Roussakis N, Kallieri M, ... ... Legendre M, et al. Lung disease caused by non-null ABCA3 mutations: long-term follow-up European Respiratory Journal. DOI: 10.1183/13993003.Congress-2018.Pa3020 |
0.609 |
|
| 2018 |
Nathan N, Legendre M, Amselem S, Clement A, Filhol-Blin E, Richard N, Roullaud S, Fayon M, Rice GI, Duffy D, Bondet V, L'Hermine AC, Neven B, Fremond M, Crow YJ. COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization European Respiratory Journal. 52. DOI: 10.1183/13993003.Congress-2018.Pa2236 |
0.528 |
|
| 2018 |
Nathan N, Legendre M, Filhol-Blin E, Borie R, Bouvry D, Kannengiesser C, Ahmad K, Albuisson J, Allou N, Borensztajn K, Butt A, Copin B, Cottin V, Crestani B, Dalphin J, et al. Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer European Respiratory Journal. 52. DOI: 10.1183/13993003.Congress-2018.Pa2235 |
0.593 |
|
| 2018 |
Nathan N, Legendre M, Filhol-Blin E, Borie R, Bouvry D, Afanetti M, Ahmad K, Albuisson J, Allou N, Bailly C, Borensztajn K, Butt A, Copin B, L'Hermine AC, Crestani B, et al. Contribution of mutations in genes of the surfactant system to idiopathic interstitial pneumonia (IIP) European Respiratory Journal. DOI: 10.1183/13993003.Congress-2018.Oa547 |
0.679 |
|
| 2017 |
Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H, Jaspers M, Laurent N, Coste A, Escudier E, Amselem S, Maitre B, Legendre M, Christin-Maitre S. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. The European Respiratory Journal. 50. PMID 29122913 DOI: 10.1183/13993003.00314-2017 |
0.58 |
|
| 2017 |
Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S. Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. Human Molecular Genetics. PMID 29121203 DOI: 10.1093/Hmg/Ddx396 |
0.697 |
|
| 2017 |
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications. 8: 14279. PMID 28176794 DOI: 10.1038/Ncomms14279 |
0.593 |
|
| 2017 |
Maitre B, Vanaken GJ, Bassinet L, Boon M, Mani R, Honore I, Papon JF, Cuppens H, Jaspers M, Coste A, Escudier E, Amselem S, Legendre M, Maitre SC. Hypofertility in adult patients with primary ciliary dyskinesia European Respiratory Journal. 50. DOI: 10.1183/1393003.Congress-2017.Pa4174 |
0.685 |
|
| 2017 |
Nathan N, Legendre M, Kannengiesser C, Albuisson J, Borie R, Bouvry D, Copin B, Crestani B, Dalphin J, Moal FDL, Vuyst PD, Duquesnoy P, Filhol-Blin E, Giraud V, Gomez C, et al. SFTPA mutations in interstitial lung disease (ILD) and lung cancer European Respiratory Journal. DOI: 10.1183/1393003.Congress-2017.Pa1516 |
0.564 |
|
| 2017 |
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Tissier S, Faucon C, Dastot F, Copin B, Clement A, Coste A, Amselem S, Escudier E, Papon J, et al. L’analyse quantitative du mouvement ciliaire permet d’identifier le phénotype ultra-structural des dyskinésies ciliaires primitives Revue Des Maladies Respiratoires. 34: A34. DOI: 10.1016/J.Rmr.2016.10.069 |
0.543 |
|
| 2017 |
Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard J, Awad F, Legendre M, Amselem S, Grateau G. Association d’une maladie de Verneuil à une fièvre méditerranéenne familiale : 6 cas Revue Du Rhumatisme. 84: 543-546. DOI: 10.1016/J.Rhum.2017.05.016 |
0.695 |
|
| 2016 |
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, ... ... Legendre M, et al. Contribution of LHX4 mutations to pituitary deficits in a cohort of 417 unrelated patients. The Journal of Clinical Endocrinology and Metabolism. jc20163158. PMID 27820671 DOI: 10.1210/Jc.2016-3158 |
0.775 |
|
| 2016 |
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, ... ... Legendre M, et al. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. American Journal of Human Genetics. 99: 489-500. PMID 27486783 DOI: 10.1016/J.Ajhg.2016.06.022 |
0.711 |
|
| 2016 |
Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients. Joint, Bone, Spine : Revue Du Rhumatisme. PMID 27238193 DOI: 10.1016/J.Jbspin.2016.02.021 |
0.732 |
|
| 2016 |
Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Moal FD, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, ... Legendre M, et al. Mutations in GAS8, A Gene Encoding A Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia With Axonemal Disorganization. Human Mutation. PMID 27120127 DOI: 10.1002/Humu.23005 |
0.705 |
|
| 2016 |
Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, ... ... Legendre M, et al. Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. Human Molecular Genetics. 25: 1457-67. PMID 26792177 DOI: 10.1183/13993003.Congress-2016.Oa481 |
0.591 |
|
| 2016 |
Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Tessier S, Escudier E, Papon J, Louis B. Objective videomicroscopy parameters correlate ciliary beating to ultrastructure in primary ciliary dyskinesia European Respiratory Journal. 48. DOI: 10.1183/13993003.Congress-2016.Pa1542 |
0.424 |
|
| 2016 |
Blanchon S, Legendre M, Coste A, Beydon N, Amselem S, Escudier E, Papon J. Dyskinésies ciliaires primitives : actualités diagnostiques Revue FrançAise D'Allergologie. 56: 209-211. DOI: 10.1016/J.Reval.2016.01.014 |
0.485 |
|
| 2016 |
Abbara S, Georgin-Lavialle S, Katia SS, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G. Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients Joint Bone Spine. DOI: 10.1016/j.jbspin.2016.02.021 |
0.719 |
|
| 2015 |
Edwards M, Brescianini S, Allgood C, Freelander M, Dunstan R, Patradoon-Ho P, Chin R, Morgan L, Pervez T, Legendre M, Burgess T, Amselem S, Whitehall J. Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray. Journal of Paediatrics and Child Health. PMID 26228624 DOI: 10.1111/Jpc.12981 |
0.511 |
|
| 2015 |
Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, ... ... Legendre M, et al. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. American Journal of Human Genetics. 97: 153-62. PMID 26073779 DOI: 10.1016/J.Ajhg.2015.05.004 |
0.814 |
|
| 2015 |
Lazea C, Grigorescu-Sido P, Popp R, Legendre M, Amselem S, Al-Khzouz C, Bucerzan S, Creţ V, Crişan M, Brad C. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency. Journal of Pediatric Endocrinology & Metabolism : Jpem. 28: 993-8. PMID 25581745 DOI: 10.1515/Jpem-2014-0289 |
0.656 |
|
| 2015 |
Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clinical Endocrinology. 82: 876-84. PMID 25557026 DOI: 10.1111/Cen.12706 |
0.699 |
|
| 2014 |
Ratbi I, Fejjal N, Legendre M, Collot N, Amselem S, Sefiani A. Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. Journal of Medical Case Reports. 8: 471. PMID 25547932 DOI: 10.1186/1752-1947-8-471 |
0.651 |
|
| 2013 |
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. American Journal of Human Genetics. 93: 561-70. PMID 23993197 DOI: 10.1016/J.Ajhg.2013.07.013 |
0.824 |
|
| 2012 |
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. American Journal of Human Genetics. 91: 958-64. PMID 23122589 DOI: 10.1016/J.Ajhg.2012.10.003 |
0.804 |
|
| 2012 |
Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Journal of Medical Genetics. 49: 410-6. PMID 22693285 DOI: 10.1186/2046-2530-1-S1-P91 |
0.819 |
|
| 2012 |
Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML. Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities. European Journal of Endocrinology / European Federation of Endocrine Societies. 167: 85-91. PMID 22535646 DOI: 10.1530/Eje-12-0026 |
0.608 |
|
| 2012 |
Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S. Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. The Journal of Clinical Endocrinology and Metabolism. 97: E503-9. PMID 22238406 DOI: 10.1210/Jc.2011-2095 |
0.805 |
|
| 2012 |
Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chassaing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, Passemard S, Aboura A, Kaltenbach S, Quentin S, Dupont C, et al. Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. European Journal of Human Genetics : Ejhg. 20: 527-33. PMID 22234157 DOI: 10.1038/Ejhg.2011.233 |
0.587 |
|
| 2012 |
Peycelon M, Frade F, Hyon C, Legendre M, Collot N, Dastot-le Moal F, Soleyan C, Chantot-Bastaraud S, Grapin-Dagorno C, Audry G, Amselem S, Siffroi J. Profil germinal et somatique du gène AR dans l’hypospadias ProgrèS En Urologie. 22: 758. DOI: 10.1016/J.Purol.2012.08.042 |
0.467 |
|
| 2011 |
Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S. Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. Human Reproduction (Oxford, England). 26: 724-8. PMID 21227944 DOI: 10.1093/Humrep/Deq372 |
0.476 |
|
| 2011 |
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nature Genetics. 43: 72-8. PMID 21131972 DOI: 10.1038/Ng.726 |
0.677 |
|
| 2010 |
de Becdelièvre A, Costa C, LeFloch A, Legendre M, Jouannic JM, Vigneron J, Bresson JL, Gobin S, Martin J, Goossens M, Girodon E. Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. European Journal of Human Genetics : Ejhg. 18: 1166-9. PMID 20512161 DOI: 10.1038/Ejhg.2010.80 |
0.406 |
|
| 2009 |
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. American Journal of Human Genetics. 85: 890-6. PMID 19944405 DOI: 10.1016/J.Ajhg.2009.11.008 |
0.693 |
|
| 2009 |
Pantel J, Legendre M, Nivot S, Morisset S, Vie-Luton MP, le Bouc Y, Epelbaum J, Amselem S. Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. The Journal of Clinical Endocrinology and Metabolism. 94: 4334-41. PMID 19789204 DOI: 10.1210/Jc.2009-1327 |
0.608 |
|
| 2008 |
Legendre M, LeFloch A, Niel F, Gameiro C, Martin J, Grenet D, Derelle J, Izard V, Costa C, Goossens M, Girodon E. Identification and characterization of three CFTR gene partial duplications Journal of Cystic Fibrosis. 7: S7. DOI: 10.1016/S1569-1993(08)60029-6 |
0.352 |
|
| 2007 |
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. 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. Human Reproduction (Oxford, England). 22: 1285-91. PMID 17329263 DOI: 10.1093/Humrep/Dem024 |
0.471 |
|
| 2006 |
Niel F, Legendre M, Bienvenu T, Bieth E, Lalau G, Sermet I, Bondeux D, Boukari R, Derelle J, Levy P, Ruszniewski P, Martin J, Costa C, Goossens M, Girodon E. A new large CFTR rearrangement illustrates the importance of searching for complex alleles. Human Mutation. 27: 716-7. PMID 16786510 DOI: 10.1002/Humu.9431 |
0.422 |
|
| 2006 |
Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. The Journal of Clinical Investigation. 116: 760-8. PMID 16511605 DOI: 10.1172/Jci25303 |
0.602 |
|
| 2006 |
Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Annals of the Rheumatic Diseases. 65: 1154-7. PMID 16439437 DOI: 10.1136/Ard.2005.048124 |
0.779 |
|
| 2005 |
Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis and Rheumatism. 52: 3603-5. PMID 16255051 DOI: 10.1002/Art.21408 |
0.734 |
|
| 2005 |
Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P. Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype. Human Mutation. 25: 360-71. PMID 15776432 DOI: 10.1002/Humu.20156 |
0.469 |
|
| 2003 |
Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, Amselem S, Girodon E. Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations. Clinical Chemistry. 49: 1942-5. PMID 14578331 DOI: 10.1373/Clinchem.2003.021212 |
0.797 |
|
| 2003 |
Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Human Mutation. 22: 339-40. PMID 12955725 DOI: 10.1002/Humu.9182 |
0.79 |
|
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