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M

Marie Legendre

INSERM
H指数:36
被引数:5,320

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De novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy

婴儿神经内分泌细胞增生和持续性呼吸急促中的全新SRRM2基因变异

European Respiratory Journal
IF21
2026-02-010
PRE
Louvrier, Camille; Soreze, Yohan; Mesinele, Julie; de Becdelievre, Alix; Desroziers, Tifenn; Nau, Valerie; Dastot-Le Moal, Florence; Levergeois, Romain; Legendre, Marie; Giurgea, Irina; Konyukh, Marina; Abou Taam, Rola; Becourt, Arnaud; Cosson, Laure; Gibertini, Isabelle; Borie, Raphael; Rodriguez, Diana; Troadec, Corinne; L'hermine, Aurore Coulomb; Dubus, Jean-Christophe; Nathan, Nadia
European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

欧洲呼吸学会和美国胸科学会关于原发性纤毛运动障碍诊断指南。Eur. Respir. J. 26, 2500745

EUROPEAN RESPIRATORY JOURNAL
IF21
2025-12-016
PRE
Shoemark, Amelia; Goutaki, Myrofora; Kinghorn, Breanna; Ardura-Garcia, Cristina; Baz-Redon, Noelia; Chilvers, Mark; Davis, Stephanie D.; De Brandt, Jana; Dell, Sharon; Dhar, Raja; Dixon, Lucy; Ferkol, Thomas; Hogg, Claire; Legendre, Marie; Leigh, Margaret; Lucas, Jane S.; Manion, Michele; Rumman, Nisreen; Toews, Ingrid; Labonte, Valerie; Wee, Wallace B.; Kouis, Panayiotis; Horani, Amjad
Phenotype-Genotype Correlations in ABCA3 Patients—The RespiRare Cohort

ABCA3患者表型-基因型相关性——RespiRare队列研究

Pediatric Pulmonology
IF2.3
2025-10-150
OAAI
Manon Fleury; Céline Delestrain; Alice Hadchouel; Julie Mazenq; Myriam Benhamida; Anne-Sophie Bernard; Raphaël Borie; Jacques Brouard; Harriet Corvol; Pierrick Cros; Christophe Delacourt; Tifenn Desroziers; Jean-Christophe Dubus; Carole Egron; Ralph Epaud; Michael Fayon; Aude Forgeron; Lisa Giovannini-Chami; Christophe Marguet; Alexandra Masson-Rouchaud; Hortense Petat; Marie-Catherine Renoux; Léa Roditis; Caroline Thumerelle; Clémentine Vigier; Aurore Coulomb L'Herminé; Hubert Ducou le Pointe; Pascale Fanen; Camille Fletcher; Chiara Sileo; Laureline Berteloot; Camille Louvrier; Alix de Becdelièvre; Marie Legendre; Nadia Nathan
Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

早期发病间质性肺病的分子研究：699例无关患者的结果

Respirology
IF6.3
2025-10-030
OAAI
Camille Louvrier; Nadia Nathan; Vincent Cottin; Tifenn Desroziers; Valérie Nau; Yohan Soreze; Florence Dastot-Le Moal; Philippe Reix; Diane Bouvry; Caroline Thumerelle; Martine Reynaud-Gaubert; Alice Hadchouel; Grégoire Prévot; Effrosyni Manali; Caroline Kannengiesser; Ibrahima Ba; Serge Amselem; Véronique Houdouin; Raphaël Borie; Marie Legendre; RespiRare and OrphaLung
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity

体细胞嵌合NLRC4变异在自身炎症性疾病中的功能表征及嵌合水平的疾病发病年龄和严重程度相关性研究

Journal of Clinical Immunology
IF5.7
2025-07-080
OAAI
Farah Diab; Camille Louvrier; Marc Fabre; Christine Lin; Mira Rabbaa; Eman Assrawi; Aphrodite Daskalopoulou; Rahma Mani; Florence Dastot Le Moal; William Piterboth; Marie Legendre; Serge Amselem; Sonia Athina Karabina; Irina Giurgea
Surfactant protein B deficiency: the RespiRare cohort
THORAX
IF7.7
2024-12-040
OA
Fleury, Manon; Delestrain, Celine; Roditis, Lea; Perisson, Caroline; Renoux, Marie-Catherine; Thumerelle, Caroline; Epaud, Ralph; Fletcher, Camille; Jedidi, Nouha; Coulomb L'Hermine, Aurore; Corvol, Harriet; Ducou le Pointe, Hubert; Fanen, Pascale; Sileo, Chiara; Louvrier, Camille; de Becdelievre, Alix; Legendre, Marie; Nathan, Nadia
Children's ILDs survivors in adulthood: a European Study
EUROPEAN RESPIRATORY JOURNAL
IF21
2024-10-300
PRE
Manali, Effrosyni D.; Griese, Matthias; Nathan, Nadia; Uzunhan, Yurdagul; Borie, Raphael; Michel, Katarzyna; Schwerk, Nikolaus; Fijolek, Justyna; Radzikowska, Elzbieta; Chua, Felix; Pabary, Rishi; Mogulkoc, Nesrin; Mccarthy, Cormac; Kallieri, Maria; Papaioannou, Andriana, I; Kiper, Nural; Vasakova, Martina Koziar; Lacina, Ladislav; Molina-Molina, Maria; Torrent-Vernetta, Alba; Tsiligiannis, Theofanis; Karadag, Bulent; Kokosi, Maria; Renzoni, Elisabetta A.; Moorsel, Coline Hm Van; Campo, Ilaria; Bendstrup, Elisabeth; Prior, Thomas Skovhus; Prasse, Antje; Bonella, Francesco; Cottin, Vincent; Diesler, Remi; Froidure, Antoine; Kolilekas, Lykourgos; Fotis, Lampros; Douros, Konstantinos; Kaditis, Athanasios G.; Jeny, Florence; Chauveau, Simon; Nunes, Hilario; Dahbia, Azrine; Mariani, Francesca; van der Vis, Joanne; Groen, Karlijn; Eralp, Ela Erdem; Gokdemir, Yasemin; Kocakaya, Derya; Yildizeli, Sehnaz Olgun; Yildizeli, Olgun; Yalcin, Ebru; Emiralioglu, Nagehan; Buyuksahin, Halime Nayir; O'Brien, Helen; Karcioglu, Oguz; Can, Demet; Ezircan, Alper; Ozturk, Gokcen Kartal; Ozturk, Kartal; Ocal, Nesrin; Yuksel, Hasan; Tongal, Narin; Safrankova, Martina; Kourtesi, Katerina; Louvrier, Camille; Kannengiesser, Caroline; Fabre, Aurelie; Legendre, Marie; Crestani, Bruno; Pohunek, Petr; Bush, Andrew; Papiris, Spyros
Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort

法国儿童间质性肺疾病的流行病学: RespiRare队列

THORAX
IF7.7
2024-07-042
PRE
Fletcher, Camille; Hadchouel, Alice; Thumerelle, Caroline; Mazenq, Julie; Fleury, Manon; Corvol, Harriet; Jedidi, Nouha; Benhamida, Myriam; Bessaci, Katia; Bilhouee, Tiphaine; Borie, Raphael; Brouard, Jacques; Cantais, Aurelie; Clement, Annick; Coutier, Laurianne; Cisterne, Camille; Cros, Pierrick; Dalphin, Marie-Laure; Delacourt, Christophe; Deneuville, Eric; Dubus, Jean-Christophe; Egron, Carole; Epaud, Ralph; Fayon, Michael; Forgeron, Aude; Gachelin, Elsa; Galode, Francois; Gertini, Isabelle; Giovannini-Chami, Lisa; Gourdan, Pierre; Guiddir, Tamazoust; Herzog, Audrey; Houdouin, Veronique; Hullo, Eglantine; Jarreau, Pierre-Henri; Labbe, Guillame; Labouret, Geraldine; Ladaurade, Alice; Viala, Laurence Le Clainche; Marguet, Christophe; Masson-Rouchaud, Alexandra; Perisson, Caroline; Rames, Cinthia; Reix, Philippe; Renoux, Marie-Catherine; Roditis, Lea; Schweitzer, Cyril; Tatopoulos, Aurelie; Trioche-Eberschweiler, Pascale; Troussier, Francoise; Vigier, Clementine; Weiss, Laurence; Legendre, Marie; Louvrier, Camille; de Becdelievre, Alix; Coulomb, Aurore; Sileo, Chiara; le Pointe, Hubert Ducou; Berteloot, Laureline; Delestrain, Celine; Nathan, Nadia
High risk of lung cancer in surfactant-related gene variant carriers
EUROPEAN RESPIRATORY JOURNAL
IF21
2024-04-040
OAAI
Brudon, Alexandre; Legendre, Marie; Mageau, Arthur; Bermudez, Julien; Bonniaud, Philippe; Bouvry, Diane; Cadranel, Jacques; Cazes, Aurelie; Crestani, Bruno; Degot, Tristan; Delestrain, Celine; Diesler, Remi; Epaud, Ralph; Philippot, Quentin; Theou-Anton, Nathalie; Kannengiesser, Caroline; Ba, Ibrahima; Debray, Marie-Pierre; Fanen, Pascale; Manali, Efrosine; Papiris, Spyros; Nathan, Nadia; Amselem, Serge; Gondouin, Antoine; Guillaumot, Anne; Andrejak, Claire; Jouneau, Stephane; Beltramo, Guillaume; Uzunhan, Yurdagul; Galode, Francois; Westeel, Virginie; Mehdaoui, Anas; Hirschi, Sandrine; Leroy, Sylvie; Marchand-Adam, Sylvain; Nunes, Hilario; Picard, Clement; Prevot, Gregoire; Reynaud-Gaubert, Martine; De Vuyst, Paul; Wemeau, Lidwine; Defossez, Gautier; Zalcman, Gerard; Cottin, Vincent; Borie, Raphael
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-02-263
PRE
Thomas, Lucie; Cuisset, Laurence; Papon, Jean-Francois; Tamalet, Aline; Pin, Isabelle; Abou Taam, Rola; Faucon, Catherine; Montantin, Guy; Tissier, Sylvie; Duquesnoy, Philippe; Dastot-Le Moal, Florence; Copin, Bruno; Carion, Nathalie; Louis, Bruno; Chantot-Bastaraud, Sandra; Siffroi, Jean-Pierre; Mitri, Rana; Coste, Andre; Escudier, Estelle; Thouvenin, Guillaume; Amselem, Serge; Legendre, Marie
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults
RESPIROLOGY
IF6.3
2024-02-120
OAAI
Diesler, Remi; Legendre, Marie; Si-Mohamed, Salim; Brillet, Pierre-Yves; Wemeau, Lidwine; Manali, Effrosyni D.; Gagnadoux, Frederic; Hirschi, Sandrine; Lorillon, Gwenael; Reynaud-Gaubert, Martine; Bironneau, Vanessa; Blanchard, Elodie; Bourdin, Arnaud; Dominique, Stephane; Justet, Aurelien; Macey, Julie; Marchand-Adam, Sylvain; Morisse-Pradier, Helene; Nunes, Hilario; Papiris, Spyros A.; Traclet, Julie; Traore, Ibrahim; Crestani, Bruno; Amselem, Serge; Nathan, Nadia; Borie, Raphael; Cottin, Vincent
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science
IF45.8
2024-01-010
OAAI
Daniel O Dodd; Sabrina Méchaussier; Patricia Levy Yeyati; Fraser McPhie; Jacob R. Anderson; Chen Jing Khoo; Amelia Shoemark; Deepesh Kumar Gupta; Thomas Attard; Maimoona A. Zariwala; Marie Legendre; Diana Carolin Bracht; Julia Wallmeier; Miao Gui; Mahmoud R. Fassad; David A. Parry; Peter A. Tennant; Alison M. Meynert; Gabrielle Wheway; Lucas Fares‐Taie; Holly A. Black; Rana Mitri-Frangieh; Catherine Faucon; Josseline Kaplan; Mitali Patel; Lisa McKie; Roly D. Megaw; Christos Gatsogiannis; Mai A. Mohamed; Stuart Aitken; Philippe Emmanuel Gautier; Finn R. Reinholt; Robert Anthony Hirst; Christopher O’Callaghan; Ketil Heimdal; Mathieu Bottier; Estelle F. Escudier; Suzanne Crowley; Maria D. Descartes; Ethylin Wang Jabs; Priti Kenia; Jeanne Amiel; Giacomo Maria Bacci; Claudia Calogero; Viviana Palazzo; Lucia Tiberi; Ulrike Blümlein; Andrew V. Rogers; Jennifer Wambach; Daniel J. Wegner; Anne B. Fulton; Margaret A. Kenna; Margaret Rosenfeld; Ingrid A. Holm; Alan J. Quigley; Emma A. Hall; Laura C. Murphy; Diane M. Cassidy; Alex von Kriegsheim; Scottish Genomes Partnership; Undiagnosed Diseases Network; Jean‐François Papon; Laurent Pasquier; Marlène Murris; James Duncan Chalmers; Claire L. Hogg; Kenneth A. Macleod; Don S. Urquhart; Stefan Achim Unger; Timothy J. Aitman; Serge Amselem; Margaret W. Leigh; Michael R. Knowles; Heymut Omran; Hannah M. Mitchison; Alan Brown; Joseph A. Marsh; Julie P. I. Welburn; Shih-Chieh Ti; Amjad Horani; Jean‐Michel Rozet; Isabelle Perrault; Pleasantine Mill
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy
REPRODUCTIVE BIOMEDICINE ONLINE
IF3.5
2023-11-015
PRE
Boursiera, Angele; Boudry, Augustin; Mitchella, Valerie; Loyens, Anne; Rives, Nathalie; Moerman, Alexandre; Thomas, Lucie; Escudier, Estelle; Toure, Aminata; Whitfield, Marjorie; Coutton, Charles; Martinez, Guillaume; Ray, Pierre F.; Kherraf, Zine-Eddine; Viville, Stephane; Legendre, Marie; Smol, Thomas; Robin, Geoffroy; Barbotin, Anne-Laure
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-270
OA
Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah
Epidemiology of diffuse interstitial lung disease in children in France: The RespiRare cohort
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-270
PRE
Fletcher, Camille; Duvergne, Alice Hadchouel; Thumerelle, Caroline; Fleury, Manon; Jedidi, Nouha; Benhamida, Myriam; Bessaci, Katia; Borie, Raphael; Bilhouee, Tiphaine; Brouard, Jacques; Cantais, Aurelie; Clement, Annick; Coutier, Laurianne; Cros, Pierrick; Dalphin, Marie Laure; Delacourt, Christophe; Epaud, Ralph; Deneuville, Eric; Deschildre, Antoine; Dubus, Jean-Christophe; Egron, Carole; Fayon, Michael; Fina, Agnes; Forgeron, Aude; Gachelin, Elsa; Galode, Francois; Gibertini, Isabelle; Giovannini-Chami, Lisa; Guiddir, Tamazoust; Herzog, Audrey; Houdouin, Veronique; Hullo, Eglantine; Jarreau, Pierre-Henri; Labouret, Geraldine; Ladaurade, Alice; Viala, Laurence Le Clainche; Marguet, Christophe; Masson-Rouchaud, Alexandra; Mazenq, Julie; Perisson, Caroline; Rames, Cinthia; Reix, Philippe; Renoux, Marie-Catherine; Roditis, Lea; Schweitzer, Cyril; Tatopoulos, Aurelie; Trioche-Eberschweiler, Pascale; Troussier, Francoise; Vigier, Clementine; Weiss, Laurence; Legendre, Marie; Louvrier, Camille; De Becdelievre, Alix; Coulomb, Aurore; Sileo, Chiara; Le Pointe, Hubert Ducou; Bertheloot, Laureline; Delestrain, Celine; Nathan, Nadia; Fletcher, Camille
Phenotypic characterization of interstitial lung disease associated with mutations in SFTPC and ABCA3 in adults
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-271
PRE
Diesler, Remi; Legendre, Marie; Si-Mohamed, Salim; Brillet, Pierre-Yves; Wemeau, Lidwine; Manali, Effrosyni D.; Gagnadoux, Frederic; Gondouin, Anne; Hirschi, Sandrine; Lorillon, Gwenael; Reynaud-Gaubert, Martine; Bironneau, Vanessa; Blanchard, Elodie; Bourdin, Arnaud; Dominique, Stephane; Justet, Aurelien; Macey, Julie; Marchand-Adam, Sylvain; Morisse-Pradier, Helene; Nunes, Hilario; Papiris, Spyros; Traclet, Julie; Crestani, Bruno; Amsellem, Serge; Nathan, Nadia; Borie, Raphael; Cottin, Vincent

研究方向

暂未获取到该数据
S
Serge Amselem
H 指数:70论文数:357被引数:1.4万
N
Nadia Nathan
H 指数:35论文数:259被引数:4,303
E
Estelle Escudier
H 指数:55论文数:182被引数:8,897
B
Bruno Copin
H 指数:24论文数:54被引数:2,580
J
Jean‐François Papon
H 指数:37论文数:198被引数:5,661
A
Annick Clément
H 指数:58论文数:375被引数:1.0万
R
Raphaël Borie
H 指数:64论文数:600被引数:1.8万
B
Bruno Crestani
H 指数:83论文数:930被引数:2.8万
C
Camille Louvrier
H 指数:17论文数:90被引数:1,109
A
A. Coste
H 指数:53论文数:361被引数:1.3万