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Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

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Title: Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Authors: Fleury M; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France., Delestrain C; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.; INSERM U955 (IMRB), Université Paris Est Créteil (UPEC), Créteil, France., Hadchouel A; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France., Mazenq J; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France., Benhamida M; General Paediatrics Department, CHU Nantes, Nantes, France.; Clinical Research Department, CHU Nantes, Nantes, France., Bernard AS; Neonatology Department, Groupe hospitalier Artois-Ternois, Arras, France., Borie R; Service de Pneumologie A Hôpital Bichat, APHP, Inserm UMR-S 1152 PHERE, Université Paris Cité, Paris, France., Brouard J; Medical Pediatric Department, CHU de Caen, Inserm UMRS 1311, DYNAMICURE, UNICAEN, Caen, France., Corvol H; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.; Inserm UMR S_938, Centre de Recherche Saint-Antoine (CRSA), Sorbonne Université, Paris, France., Cros P; Pediatric Department, University Hospital, Brest, France., Delacourt C; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France., Desroziers T; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Dubus JC; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France., Egron C; Pediatric Pulmonology Department, University Hospital, Clermont Ferrand, France., Epaud R; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.; INSERM U955 (IMRB), Université Paris Est Créteil (UPEC), Créteil, France., Fayon M; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), University Hospital, Clinical Investigation Centre (CIC 1401), Bordeaux, France.; Cardio-Thoracic Research Centre of Bordeaux, Bordeaux University, Bordeaux, France., Forgeron A; Pediatric Department, Hospital Centre, Le Mans, France., Giovannini-Chami L; Pediatric Pulmonology Department, University Hospital Lenval, Nice, France., Marguet C; Pediatric Department, University Hospital, INSERM, Dynamicure, France., Masson-Rouchaud A; Pediatric Pulmonology Department, University Hospital, Limoges, France., Petat H; Pediatric Department, University Hospital, INSERM, Dynamicure, France., Renoux MC; Pediatric Pulmonology Department, University Hospital, Montpellier, France., Roditis L; Pediatric Pulmonology Department, University Hospital, Toulouse, France., Thumerelle C; Pediatric Pulmonology Department, University Hospital, Lille, France., Vigier C; Pediatric Pulmonology Department, University Hospital, Rennes, France., L'Herminé AC; Pediatric Anatomopathology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Pointe HDL; Pediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Fanen P; Genetic Department, Henri Mondor Hospital, Créteil, France.; UPEC; INSERM U955 (IMRB), Créteil, France., Fletcher C; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France., Sileo C; Pediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Berteloot L; Radiology Department, Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France., Louvrier C; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.; AP-HP, Molecular Genetics Unit, Armand Trousseau Hospital, Sorbonne Université, Paris, France., de Becdelièvre A; Genetic Department, Henri Mondor Hospital, Créteil, France.; UPEC; INSERM U955 (IMRB), Créteil, France., Legendre M; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.; AP-HP, Molecular Genetics Unit, Armand Trousseau Hospital, Sorbonne Université, Paris, France., Nathan N; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Source: Pediatric pulmonology [Pediatr Pulmonol] 2025 Oct; Vol. 60 (10), pp. e71324.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
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  Data: <searchLink fieldCode="AU" term="%22Fleury+M%22">Fleury M</searchLink>; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delestrain+C%22">Delestrain C</searchLink>; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.; INSERM U955 (IMRB), Université Paris Est Créteil (UPEC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Hadchouel+A%22">Hadchouel A</searchLink>; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mazenq+J%22">Mazenq J</searchLink>; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Benhamida+M%22">Benhamida M</searchLink>; General Paediatrics Department, CHU Nantes, Nantes, France.; Clinical Research Department, CHU Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bernard+AS%22">Bernard AS</searchLink>; Neonatology Department, Groupe hospitalier Artois-Ternois, Arras, France.<br /><searchLink fieldCode="AU" term="%22Borie+R%22">Borie R</searchLink>; Service de Pneumologie A Hôpital Bichat, APHP, Inserm UMR-S 1152 PHERE, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Brouard+J%22">Brouard J</searchLink>; Medical Pediatric Department, CHU de Caen, Inserm UMRS 1311, DYNAMICURE, UNICAEN, Caen, France.<br /><searchLink fieldCode="AU" term="%22Corvol+H%22">Corvol H</searchLink>; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.; Inserm UMR S_938, Centre de Recherche Saint-Antoine (CRSA), Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cros+P%22">Cros P</searchLink>; Pediatric Department, University Hospital, Brest, France.<br /><searchLink fieldCode="AU" term="%22Delacourt+C%22">Delacourt C</searchLink>; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Desroziers+T%22">Desroziers T</searchLink>; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dubus+JC%22">Dubus JC</searchLink>; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Egron+C%22">Egron C</searchLink>; Pediatric Pulmonology Department, University Hospital, Clermont Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Epaud+R%22">Epaud R</searchLink>; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.; INSERM U955 (IMRB), Université Paris Est Créteil (UPEC), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Fayon+M%22">Fayon M</searchLink>; Pediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), University Hospital, Clinical Investigation Centre (CIC 1401), Bordeaux, France.; Cardio-Thoracic Research Centre of Bordeaux, Bordeaux University, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Forgeron+A%22">Forgeron A</searchLink>; Pediatric Department, Hospital Centre, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Giovannini-Chami+L%22">Giovannini-Chami L</searchLink>; Pediatric Pulmonology Department, University Hospital Lenval, Nice, France.<br /><searchLink fieldCode="AU" term="%22Marguet+C%22">Marguet C</searchLink>; Pediatric Department, University Hospital, INSERM, Dynamicure, France.<br /><searchLink fieldCode="AU" term="%22Masson-Rouchaud+A%22">Masson-Rouchaud A</searchLink>; Pediatric Pulmonology Department, University Hospital, Limoges, France.<br /><searchLink fieldCode="AU" term="%22Petat+H%22">Petat H</searchLink>; Pediatric Department, University Hospital, INSERM, Dynamicure, France.<br /><searchLink fieldCode="AU" term="%22Renoux+MC%22">Renoux MC</searchLink>; Pediatric Pulmonology Department, University Hospital, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Roditis+L%22">Roditis L</searchLink>; Pediatric Pulmonology Department, University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Thumerelle+C%22">Thumerelle C</searchLink>; Pediatric Pulmonology Department, University Hospital, Lille, France.<br /><searchLink fieldCode="AU" term="%22Vigier+C%22">Vigier C</searchLink>; Pediatric Pulmonology Department, University Hospital, Rennes, France.<br /><searchLink fieldCode="AU" term="%22L'Herminé+AC%22">L'Herminé AC</searchLink>; Pediatric Anatomopathology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pointe+HDL%22">Pointe HDL</searchLink>; Pediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fanen+P%22">Fanen P</searchLink>; Genetic Department, Henri Mondor Hospital, Créteil, France.; UPEC; INSERM U955 (IMRB), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Fletcher+C%22">Fletcher C</searchLink>; Pediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Sileo+C%22">Sileo C</searchLink>; Pediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Berteloot+L%22">Berteloot L</searchLink>; Radiology Department, Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Louvrier+C%22">Louvrier C</searchLink>; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.; AP-HP, Molecular Genetics Unit, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Becdelièvre+A%22">de Becdelièvre A</searchLink>; Genetic Department, Henri Mondor Hospital, Créteil, France.; UPEC; INSERM U955 (IMRB), Créteil, France.<br /><searchLink fieldCode="AU" term="%22Legendre+M%22">Legendre M</searchLink>; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.; AP-HP, Molecular Genetics Unit, Armand Trousseau Hospital, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nathan+N%22">Nathan N</searchLink>; Pediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.; Inserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
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