Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Jf, Papon"'
Publikováno v:
64ème Congrès de la SFCO.
Publikováno v:
Europe PubMed Central
Inverted papilloma (IP) is a proliferative lesion of the epithelium lining the sinonasal tract, characterized by marked propensity for recurrence and association with carcinoma. To determine a putative role of matrix metalloproteinase-2 (MMP-2) and M
Autor:
Goutaki M; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland., Lam YT; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Rubbo B; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation trust, Southampton, UK.; School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Chalmers JD; Division of Molecular and Clinical Medicine, School of Medicine, University of Dundee, Dundee, UK., Kouis P; Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus., Marsh G; Children's Therapy Department, Dorset County Hospital, Dorchester, UK.; Depts of Paediatrics and Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK., Papon JF; Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, Service d'ORL, Le Kremlin-Bicêtre, France.; Faculté de Médecine, Université Paris-Saclay, Le Kremlin-Bicêtre, France., Raidt J; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Robinson P; Department of Respiratory and Sleep Medicine, Royal Children's Hospital, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia., Behan L; School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Lucas JS; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.
Publikováno v:
ERJ open research [ERJ Open Res] 2024 Sep 30; Vol. 10 (5). Date of Electronic Publication: 2024 Sep 30 (Print Publication: 2024).
Autor:
Renaud M; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France.; AP-HP, Hôpital Henri Mondor, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Créteil, France., Venkatasamy A; IHU (Institut Hospitalo-Universitaire), Strasbourg, France., Escudier E; Inserm U933, Paris, France.; AP-HP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie Médicale, Paris, France., Mitri-Frangieh R; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Centre Hospitalier Intercommunal de Créteil, Service d'Anatomopathologie, Créteil, France., Filoche M; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France.; Institut Langevin, ESPCI, Université PSL, CNRS, Paris, France., Fournier V; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France., Papon JF; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; AP-HP, Hôpital Bicêtre, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Le Kremlin-Bicêtre, France., Coste A; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France.; AP-HP, Hôpital Henri Mondor, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Créteil, France.; Centre Hospitalier Intercommunal de Créteil, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Créteil, France., Louis B; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France., Bequignon E; INSERM, U955, Créteil, France.; CNRS, EMR 7000, Créteil, France.; Université Paris-Est Créteil, Faculté de Santé, Créteil, France.; AP-HP, Hôpital Henri Mondor, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Créteil, France.; Centre Hospitalier Intercommunal de Créteil, Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Créteil, France.
Publikováno v:
Rhinology [Rhinology] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.
Autor:
Thomas L; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France., Cuisset L; Service de Médecine Génomique, Assistance Publique Hôpitaux de Paris (AP-HP), Université de Paris, Hôpital Cochin, Paris, F-75014, France., Papon JF; Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre, F-94270, France.; Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil, Inserm U955, CNRS ERL7240, Hôpital Henri-Mondor, Créteil, F-94010, France., Tamalet A; Département de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares RespiRare, AP-HP, Sorbonne Université, Hôpital Armand-Trousseau Hospital, Paris, F-75012, France., Pin I; Pédiatrie, CHU Grenoble Alpes, Grenoble, F-38500, France., Abou Taam R; Service de Pneumologie et Allergologie Pédiatriques, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France., Faucon C; Service d'Anatomopathologie, Laboratoire de Microscopie Electronique, Centre Hospitalier Intercommunal de Créteil, Créteil, F-94000, France., Montantin G; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Tissier S; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Duquesnoy P; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France., Dastot-Le Moal F; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Copin B; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France.; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Carion N; Service de Médecine Génomique, Assistance Publique Hôpitaux de Paris (AP-HP), Université de Paris, Hôpital Cochin, Paris, F-75014, France., Louis B; Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil, Inserm U955, CNRS ERL7240, Hôpital Henri-Mondor, Créteil, F-94010, France., Chantot-Bastaraud S; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France.; Génétique chromosomique, AP-HP, Hôpital Trousseau, Paris, F-75012, France., Siffroi JP; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France.; Génétique chromosomique, AP-HP, Hôpital Trousseau, Paris, F-75012, France., Mitri R; Service d'Anatomopathologie, Laboratoire de Microscopie Electronique, Centre Hospitalier Intercommunal de Créteil, Créteil, F-94000, France., Coste A; Institut Mondor de Recherche Biomédicale, Université Paris-Est Créteil, Inserm U955, CNRS ERL7240, Hôpital Henri-Mondor, Créteil, F-94010, France.; Service d'ORL et de Chirurgie Cervico-Faciale, AP-HP, Hôpital Henri-Mondor, Centre Hospitalier Intercommunal de Créteil, Créteil, F-94000, France., Escudier E; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France.; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Thouvenin G; Département de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares RespiRare, AP-HP, Sorbonne Université, Hôpital Armand-Trousseau Hospital, Paris, F-75012, France., Amselem S; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France.; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris., Legendre M; Childhood Genetic Diseases, Sorbonne Université, Inserm, Hôpital Armand-Trousseau, Paris, F-75012, France marie.legendre@aphp.fr.; Génétique moléculaire, AP-HP, Hôpital Armand-Trousseau, Paris, F-75012, Paris.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 595-604. Date of Electronic Publication: 2024 May 21.
Autor:
Favier V; Otorhinolaryngology, Head and Neck Surgery and Maxillofacial Surgery department, CHU Montpellier, Montpellier, France., Daveau C; Otorhinolaryngology - Head and Neck department, Hospices civils de Lyon, F-69004 Lyon, France., Carsuzaa F; Otorhinolaryngology and Audiophonology department, CHU Poitiers, F-86000 Poitiers, France., Fieux M; Otorhinolaryngology department, Centre Hospitalier Lyon-Sud, Pierre-Benite, France., Vandersteen C; Otorhinolaryngology department, CHU Nice - Université Côte d'Azur, Nice, France., Castillo L; Otorhinolaryngology department, CHU Nice - Université Côte d'Azur, Nice, France., Papon JF; Otorhinolaryngology - Head and neck department - Université Paris-Saclay, Assistance Publique - Hopitaux de Paris - Bicêtre Hospital, Paris, Île-de-France, France., de Gabory L; Otorhinolaryngology-Head and Neck Surgery department, CHU Bordeaux, Bordeaux, France., Saroul N; Otolaryngology Head and Neck Surgery department, CHU Clermont-Ferrand, Clermont-Ferrand, France., Verillaud B; Otorhinolaryngology department, Assistance Publique - Hopitaux de Paris - Lariboisière Hospital, Paris, Île-de-France, France., Rumeau C; Otorhinolaryngology - Head and Neck department, Université de Lorraine, CHU Nancy, F-54000 Vandoeuvre les Nancy, France.; EA 3450 DevAH - Développement, Adaptation et Handicap. Regulations cardio-respiratoires et de la motricité, Université de Lorraine, Vandoeuvre les Nancy, France., Jankowski R; Otorhinolaryngology - Head and Neck department, Université de Lorraine, CHU Nancy, F-54000 Vandoeuvre les Nancy, France., Michel J; Otorhinolaryngology- Head and Neck department, Aix-Marseille-University, Marseille, France., de Bonnecaze G; Otorhinolaryngology - Head and Neck department, Larrey Hospital, Toulouse, France., Lecanu JB; Otorhinolaryngology - Head and Neck department, Arthur Vernes Institute, F-75006 Paris, France., Coste A; Otorhinolaryngology - Head and Neck department, AP-HP Henri Mondor Hospital, F-94010 Créteil, Île-de-France, France.; National Institute of Health and Medical Research, Paris-Est Creteil Val de Marne University, F-94010 Creteil, Île-de-France, France., Béquignon E; Otorhinolaryngology - Head and Neck department, Centre Hospitalier Intercommunal Créteil, F-94010 Créteil, France., Malard O; Otorhinolaryngology department, CHU Nantes, Nantes, France., Mortuaire G; Otorhinolaryngology - Head and neck department - U1286 - INFINITE - Institute for Translational Research in Inflammation, Huriez Hospital, F-59000 Lille, France geoffrey.mortuaire@chu-lille.fr.
Publikováno v:
BMJ open [BMJ Open] 2024 May 15; Vol. 14 (5), pp. e083112. Date of Electronic Publication: 2024 May 15.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Autor:
Dodd DO; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Mechaussier S; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Yeyati PL; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., McPhie F; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Anderson JR; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Khoo CJ; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Gupta DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Attard T; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Legendre M; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Bracht D; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Wallmeier J; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Gui M; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Fassad MR; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt., Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Tennant PA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Meynert A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Wheway G; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Fares-Taie L; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Black HA; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; South East of Scotland Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK., Mitri-Frangieh R; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Biomechanics and Respiratory Apparatus, IMRB, U955 INSERM - Université Paris Est Créteil, CNRS ERL 7000, Créteil 94000, France., Faucon C; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Kaplan J; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Patel M; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; MRC Prion Unit, Institute of Prion Diseases, University College London, London W1W 7FF, UK., McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Megaw R; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK., Gatsogiannis C; Center for Soft Nanoscience and Institute of Medical Physics and Biophysics, Münster 48149, Germany., Mohamed MA; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Biochemistry Division, Chemistry Department, Faculty of Science, Zagazig University, Ash Sharqiyah 44519, Egypt., Aitken S; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Gautier P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Reinholt FR; Core Facility for Electron Microscopy, Department of Pathology, Oslo University Hospital-Rikshospitalet, Oslo 0372, Norway., Hirst RA; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., Heimdal K; Department of Medical Genetics, Oslo University Hospital, Oslo 0407, Norway., Bottier M; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Escudier E; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo 0407, Norway., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029-6504, New York, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Kenia P; Department of Paediatric Respiratory Medicine, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris 75015, France.; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Calogero C; Pediatric Pulmonary Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Blümlein U; Carl-Thiem-Klinikum Cottbus, Cottbus 03048, Germany., Rogers A; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA., Kenna M; Department of Otolaryngology, Boston Children's Hospital, Boston, MA 02115, USA., Rosenfeld M; Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA 98015, USA., Holm IA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115 USA., Quigley A; Department of Paediatric Radiology, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Hall EA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Murphy LC; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Cassidy DM; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., von Kriegsheim A; Cancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Papon JF; ENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, Le Kremlin-Bicêtre 94270, France., Pasquier L; Medical Genetics Department, CHU Pontchaillou, Rennes 35033, France., Murris MS; Department of Pulmonology, Transplantation, and Cystic Fibrosis Centre, Larrey Hospital, Toulouse 31400, France., Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Hogg C; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Macleod KA; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Urquhart DS; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Unger S; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Aitman TJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Amselem S; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Leigh MW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Omran H; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Mitchison HM; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK., Brown A; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Welburn JPI; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Ti SC; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA., Rozet JM; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Perrault I; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Mill P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
Publikováno v:
Science (New York, N.Y.) [Science] 2024 Apr 26; Vol. 384 (6694), pp. eadf5489. Date of Electronic Publication: 2024 Apr 26.
Autor:
Lam YT; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Papon JF; Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, Service d'ORL, Le Kremlin-Bicêtre, France.; Faculté de Médecine, Université Paris-Saclay, Le Kremlin-Bicêtre, France., Alexandru M; Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, Service d'ORL, Le Kremlin-Bicêtre, France.; Faculté de Médecine, Université Paris-Saclay, Le Kremlin-Bicêtre, France.; AP-HP Département de Génétique médicale, Sorbonne Université, Inserm UMR_S933 Maladies génétiques d'expression pédiatrique, Hôpital Armand Trousseau, Paris, France., Anagiotos A; Department of Otorhinolaryngology, Nicosia General Hospital, Nicosia, Cyprus., Armengot M; Department of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, La Fe University and Polytechnic Hospital, Valencia, Spain.; Medical School, Valencia University, Valencia, Spain.; Molecular, Cellular and Genomic Biomedicine Group, IIS La Fe, Valencia, Spain., Boon M; Department of Paediatrics, University Hospital Leuven, Leuven, Belgium., Burgess A; Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK., Calmes D; Department of Pneumology, University Hospital Liège, Liège, Belgium., Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway., Dheyauldeen SAD; Department of Otorhinolaryngology, Head and Neck Surgery, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway., Emiralioglu N; Department of Pediatric Pulmonology, Hacettepe University, School of Medicine, Ankara, Turkey., Erdem Eralp E; Department of Pediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey., van Gogh C; Department of Otorhinolaryngology - Head and Neck Surgery, Amsterdam UMC, Amsterdam, The Netherlands., Gokdemir Y; Department of Pediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey., Haarman EG; Department of Pediatric Pulmonology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Harris A; Southampton Children's Hospital, University of Southampton, Southampton, UK.; Primary Ciliary Dyskinesia Centre, NIHR Respiratory Biomedical Research Centre, University of Southampton, Southampton, UK., Hayn I; Department of Otorhinolaryngology, Head and Neck Surgery, Charité-Universitätsmedizin Berlin, Berlin, Germany., Ismail-Koch H; Primary Ciliary Dyskinesia Centre, Southampton Children's Hospital, Southampton NHS Foundation Trust, Southampton, UK., Karadag B; Department of Pediatric Pulmonology, Marmara University, School of Medicine, Istanbul, Turkey., Kempeneers C; Division of Respirology, Department of Pediatrics, University Hospital Liège, Liège, Belgium., Kieninger E; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kim S; Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, Service d'ORL, Le Kremlin-Bicêtre, France., Lorent N; Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.; Department Chrometa, Laboratory of Respiratory and Thoracic Diseases, KU Leuven, Leuven, Belgium., Ozcelik U; Department of Pediatric Pulmonology, Hacettepe University, School of Medicine, Ankara, Turkey., Pioch C; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine and Cystic Fibrosis Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Raidt J; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Reula A; Molecular, Cellular and Genomic Biomedicine Group, IIS La Fe, Valencia, Spain.; Biomedical Sciences Department, CEU-Cardenal Herrera University, Castellón, Spain., Roehmel J; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine and Cystic Fibrosis Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Centre for Lung Research (DZL), Associated Partner Site, Berlin, Germany.; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Sperstad Kennelly S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway., Yiallouros P; Medical School, University of Cyprus, Nicosia, Cyprus.; Pediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus., Goutaki M; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Publikováno v:
ERJ open research [ERJ Open Res] 2024 Mar 04; Vol. 10 (2). Date of Electronic Publication: 2024 Mar 04 (Print Publication: 2024).
Autor:
Hamel AL; URC, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, F-94010 Créteil, France., Delbos L; Service de Santé Publique et d'Épidémiologie, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris, F-94270 Paris, France.; Université Paris-Saclay, F-91190 Paris, France., Natella PA; URC, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, F-94010 Créteil, France., Radulesco T; Department of Oto-Rhino-Laryngology Head and Neck Surgery, La Conception University Hospital, Aix-Marseille Univesity, F-13005 Marseille, France.; Aix Marseille University, APHM, CNRS, IUSTI, F-13005 Marseille, France., Alexandru M; Université Paris-Saclay, F-91190 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Service d'ORL, F-94270 Paris, France.; INSERM, UMR-S933 Genetic Diseases of Pediatric Expression, Sorbonne University, 75005 Paris, France., Bartaire E; GHICL, Hôpital Saint-Vincent-de-Paul, F-59000 Lille, France.; Centre de Santé SOMeD, F-59777 Lille, France.; Centre de Santé Richerand, F-75010 Paris, France., Bartier S; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, F-94010 Créteil, France.; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Créteil, France.; CNRS EMR 7000, F-94010 Créteil, France., Benoite G; Délégation à la Recherche Clinique et à l'Innovation, GHICL, Hôpital Saint-Vincent-de-Paul, Faculté Libre de Médecine de Lille, F-59000 Lille, France., Bequignon E; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Créteil, France.; CNRS EMR 7000, F-94010 Créteil, France.; Service d'ORL et de Chirurgie Cervico Faciale, Centre Hospitalier Inter Communal de Créteil, F-94010 Créteil, France., Castillo L; Institut Universitaire de la Face et du Cou, Centre Hospitalier Universitaire, Université Côte d'Azur, F-06100 Nice, France., Canouï-Poitrine F; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Créteil, France.; CNRS EMR 7000, F-94010 Créteil, France.; Service de Santé Publique, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, F-94010 Créteil, France., Carsuzaa F; Service d'ORL, de Chirurgie Cervico-Faciale et d'Audiophonologie, Centre Hospitalier Universitaire de Poitiers, F-86000 Poitiers, France.; LITEC UR15560, Université de Poitiers, F-86000 Poitiers, France., Corré A; Service d'ORL et de Chirurgie Cervico Faciale, Hopital Fondation Rothschild, F-75019 Paris, France., Coste A; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Créteil, France.; CNRS EMR 7000, F-94010 Créteil, France.; Service d'ORL et de Chirurgie Cervico Faciale, Centre Hospitalier Inter Communal de Créteil, F-94010 Créteil, France., Couloigner V; Service d'ORL Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, F-75015 Paris, France.; Université Paris Cité, F-75015 Paris, France., Daveau C; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital de la Croix Rousse, Hospices Civils de Lyon, F-69004 Lyon, France., De Boissieu P; Service de Santé Publique et d'Épidémiologie, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris, F-94270 Paris, France., De Bonnecaze G; Service d'ORL et Chirurgie Cervico-Faciale, Pôle Clinique des Voies Respiratoires, Hôpital Larrey, F-31059 Toulouse, France.; Université Paul Sabatier Toulouse III, F-31062 Toulouse, France.; Université Paul Sabatier Toulouse III, Laboratoire Center for Anthropobiology and Genomics of Toulouse, F-31059 Toulouse, France., De Gabory L; Service d'ORL et Chirurgie Cervico-Faciale, Centre Hospitalo-Universitaire de Bordeaux, F-33000 Bordeaux, France., Debry C; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, F-67200 Strasbourg, France.; Unité INSERM 1121 Biomatériaux et Bioingénierie, CRBS, F-67000 Strasbourg, France., Deraedt S; Service d'ORL et de Chirurgie Cervico-Faciale, GHICL, Hôpital Saint-Vincent-de-Paul, Faculté Libre de Médecine de Lille, F-59000 Lille, France., Dufour X; Service d'ORL, de Chirurgie Cervico-Faciale et d'Audiophonologie, Centre Hospitalier Universitaire de Poitiers, F-86000 Poitiers, France., El Bakkouri W; Service d'ORL et de Chirurgie Cervico Faciale, Hopital Fondation Rothschild, F-75019 Paris, France., Gilain L; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Universitaire Gabriel Montpied, F-63000 Clermont-Ferrand, France.; Unité de Nutrition Humaine, Équipe ASMS UMR 1019, Université Clermont Auvergne, INRAE, CNRH Auvergne, F-63000 Clermont-Ferrand, France., Hans S; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Foch, Université Paris Saclay, F-92150 Paris, France., Hautefort C; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Lariboisière, Assistance Publique des Hôpitaux de Paris, F-75010 Paris, France.; INSERM U1141, Université Paris Cité, Hôpital Robert Debré, F-75019 Paris, France., Hermann R; Service d'ORL, de Chirurgie Cervico-Faciale et d'Audiophonologie, Hôpital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France.; INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Center, Equipe IMPACT, F-69500 Bron, France.; Université de Lyon, Université Lyon 1, F-69003 Lyon, France., Jankowski R; Université de Lorraine, CHRU-Nancy, Service ORL, F-54000 Nancy, France.; Université de Lorraine, DevAH, F-54000 Nancy, France., La Croix C; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Cochin, Assistance Publique des Hôpitaux de Paris, F-75014 Paris, France., Lecanu JB; Service d'ORL et de Chirurgie Cervico Faciale, Institut Arthur Vernes, F-75006 Paris, France., Malard O; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Universitaire de Nantes, Centre Hospitalier Universitaire de Nante, 1 Place A. Ricordeau Hôtel-Dieu, F-44093 Nantes, France.; INSERM, UMRS 1229, Regenerative Medicine and Skeleton (RMeS), F-44093 Nantes, France., Michel J; Department of Oto-Rhino-Laryngology Head and Neck Surgery, La Conception University Hospital, Aix-Marseille Univesity, F-13005 Marseille, France.; Aix Marseille University, APHM, CNRS, IUSTI, F-13005 Marseille, France., Nguyen Y; Service ORL, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), F-75013 Paris, France.; Sorbonne Université, Faculté de Médecine, F-75013 Paris, France., Nevoux J; Université Paris-Saclay, F-91190 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Service d'ORL, F-94270 Paris, France.; INSERM, UMR-S933 Genetic Diseases of Pediatric Expression, Sorbonne University, 75005 Paris, France., Papon JF; Université Paris-Saclay, F-91190 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Service d'ORL, F-94270 Paris, France.; INSERM, UMR-S933 Genetic Diseases of Pediatric Expression, Sorbonne University, 75005 Paris, France., Patron V; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Universitaire de Caen, F-14000 Caen, France., Prigent M; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, F-75019 Paris, France., Pruliere-Escabasse V; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Créteil, France.; Service d'ORL et de Chirurgie Cervico Faciale, Centre Hospitalier Inter Communal de Créteil, F-94010 Créteil, France., Renaud M; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, F-67200 Strasbourg, France., Rumeau C; Université de Lorraine, CHRU-Nancy, Service ORL, F-54000 Nancy, France.; Université de Lorraine, DevAH, F-54000 Nancy, France., Salmon D; Assistance Publique Hôpitaux de Paris, Direction des relations internationales, Université Paris Cité, F-75270 Paris, France., Saroul N; Service d'ORL et de Chirurgie Cervico-Faciale, Hôpital Universitaire Gabriel Montpied, F-63000 Clermont-Ferrand, France.; Unité de Nutrition Humaine, Équipe ASMS UMR 1019, Université Clermont Auvergne, INRAE, CNRH Auvergne, F-63000 Clermont-Ferrand, France., Serrano E; Service d'ORL et Chirurgie Cervico-Faciale, Pôle Clinique des Voies Respiratoires, Hôpital Larrey, F-31059 Toulouse, France.; Université Paul Sabatier Toulouse III, F-31062 Toulouse, France., Nhung Tran Khai C; Université Paris-Saclay, F-91190 Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Service d'ORL, F-94270 Paris, France., Tringali S; Université de Lyon, Université Lyon 1, F-69003 Lyon, France.; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Service d'ORL, d'Otoneurochirurgie et de Chirurgie Cervico-Faciale, F-69310 Pierre Bénite, France.; UMR 5305, Laboratoire de Biologie Tissulaire et d'Ingénierie Thérapeutique, Institut de Biologie et Chimie des Protéines, CNRS/Université Claude Bernard Lyon 1, F-69367 Lyon, France., Truy E; Service d'ORL, de Chirurgie Cervico-Faciale et d'Audiophonologie, Hôpital Edouard Herriot, Hospices Civils de Lyon, F-69003 Lyon, France.; Université de Lyon, Université Lyon 1, F-69003 Lyon, France., Vandersteen C; Institut Universitaire de la Face et du Cou, Centre Hospitalier Universitaire, Université Côte d'Azur, F-06100 Nice, France.; Laboratoire CoBTeK, Université Côte d'Azur, F-06100 Nice, France., Verillaud B; Service d'ORL et de Chirurgie Cervico Faciale, Hôpital Lariboisière, Assistance Publique des Hôpitaux de Paris, F-75010 Paris, France.; INSERM U1141, Université Paris Cité, Hôpital Robert Debré, F-75019 Paris, France., Veil R; Service de Santé Publique et d'Épidémiologie, Hôpital Bicêtre, Assistance Publique des Hôpitaux de Paris, F-94270 Paris, France.; Université Paris-Saclay, F-91190 Paris, France., Fieux M; Université de Lyon, Université Lyon 1, F-69003 Lyon, France.; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Service d'ORL, d'Otoneurochirurgie et de Chirurgie Cervico-Faciale, F-69310 Pierre Bénite, France.; UMR 5305, Laboratoire de Biologie Tissulaire et d'Ingénierie Thérapeutique, Institut de Biologie et Chimie des Protéines, CNRS/Université Claude Bernard Lyon 1, F-69367 Lyon, France.
Publikováno v:
Life (Basel, Switzerland) [Life (Basel)] 2024 Feb 22; Vol. 14 (3). Date of Electronic Publication: 2024 Feb 22.
Autor:
Paul A; Otolaryngology Department-Cochlear Implant Center, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, 94270 Kremlin-Bicêtre, France., Bense F; Otolaryngology Department-Cochlear Implant Center, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, 94270 Kremlin-Bicêtre, France., Boithias Guerot C; Neonatal Intensive Care Unit Department, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, 94270 Kremlin-Bicêtre, France., De La Rubia S; Neonatal Intensive Care Unit Department, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, 92140 Clamart, France., Lebeaux C; Center of Perinatal Care of Val-de-Marne Department, 94000 Créteil, France., Papon JF; Otolaryngology Department-Cochlear Implant Center, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris-Saclay University, 94270 Kremlin-Bicêtre, France.
Publikováno v:
International journal of neonatal screening [Int J Neonatal Screen] 2024 Jan 30; Vol. 10 (1). Date of Electronic Publication: 2024 Jan 30.