Lung disease caused by ABCA3 mutations.
Identifieur interne : 000D09 ( Main/Exploration ); précédent : 000D08; suivant : 000D10Lung disease caused by ABCA3 mutations.
Auteurs : Carolin Kröner [Allemagne] ; Thomas Wittmann [Allemagne] ; Simone Reu [Allemagne] ; Veronika Teusch [Allemagne] ; Mathias Klemme [Allemagne] ; Daniela Rauch [Allemagne] ; Meike Hengst [Allemagne] ; Matthias Kappler [Allemagne] ; Nazan Cobanoglu [Turquie] ; Tugba Sismanlar [Turquie] ; Ayse T. Aslan [Turquie] ; Ilaria Campo [Italie] ; Marijke Proesmans [Belgique] ; Thomas Schaible [Allemagne] ; Susanne Terheggen-Lagro [Pays-Bas] ; Nicolas Regamey [Suisse] ; Ernst Eber [Autriche] ; Jürgen Seidenberg [Allemagne] ; Nicolaus Schwerk [Allemagne] ; Charalampos Aslanidis [Allemagne] ; Peter Lohse [Allemagne] ; Frank Brasch [Allemagne] ; Ralf Zarbock [Allemagne] ; Matthias Griese [Allemagne]Source :
- Thorax [ 1468-3296 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Analyse de survie, Biopsie, Consanguinité, Diagnostic par imagerie, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Immunohistochimie, Liquide de lavage bronchoalvéolaire (), Microscopie électronique, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (mortalité), Transporteurs ABC (génétique), Études rétrospectives.
- MESH :
- génétique : Pneumopathies interstitielles, Transporteurs ABC.
- mortalité : Pneumopathies interstitielles.
- Adolescent, Adulte, Analyse de survie, Biopsie, Consanguinité, Diagnostic par imagerie, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Immunohistochimie, Liquide de lavage bronchoalvéolaire, Microscopie électronique, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Études rétrospectives.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (genetics), Adolescent, Adult, Biopsy, Bronchoalveolar Lavage Fluid (chemistry), Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (mortality), Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.
- MESH :
- chemical , genetics : ATP-Binding Cassette Transporters.
- chemistry : Bronchoalveolar Lavage Fluid.
- genetics : Lung Diseases, Interstitial.
- mortality : Lung Diseases, Interstitial.
- Adolescent, Adult, Biopsy, Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.
Abstract
Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.
DOI: 10.1136/thoraxjnl-2016-208649
PubMed: 27516224
Affiliations:
- Allemagne, Autriche, Belgique, Italie, Pays-Bas, Suisse, Turquie
- Bade-Wurtemberg, Basse-Saxe, Bavière, District de Haute-Bavière, District de Karlsruhe, Hollande-Septentrionale
- Amsterdam, Hanovre, Mannheim, Munich
Links toward previous steps (curation, corpus...)
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Le document en format XML
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type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name><affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name><affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name><affiliation wicri:level="1"><nlm:affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, University Hospital, University Mannheim, Mannheim</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name><affiliation wicri:level="3"><nlm:affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Emma Children's Hospital, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Pediatric Pneumology, Children's Hospital, Lucerne</wicri:regionArea><wicri:noRegion>Lucerne</wicri:noRegion></affiliation></author><author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz</wicri:regionArea><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg</wicri:regionArea><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name><affiliation wicri:level="3"><nlm:affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name><affiliation wicri:level="1"><nlm:affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hohentwielstr. 32, 78250 Tengen</wicri:regionArea><wicri:noRegion>78250 Tengen</wicri:noRegion><wicri:noRegion>78250 Tengen</wicri:noRegion><wicri:noRegion>78250 Tengen</wicri:noRegion></affiliation></author><author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld</wicri:regionArea><wicri:noRegion>Bielefeld</wicri:noRegion><wicri:noRegion>Bielefeld</wicri:noRegion><wicri:noRegion>Bielefeld</wicri:noRegion></affiliation></author><author><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27516224</idno><idno type="pmid">27516224</idno><idno type="doi">10.1136/thoraxjnl-2016-208649</idno><idno type="wicri:Area/PubMed/Corpus">000198</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000198</idno><idno type="wicri:Area/PubMed/Curation">000198</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000198</idno><idno type="wicri:Area/PubMed/Checkpoint">000160</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000160</idno><idno type="wicri:Area/Ncbi/Merge">000352</idno><idno type="wicri:Area/Ncbi/Curation">000352</idno><idno type="wicri:Area/Ncbi/Checkpoint">000352</idno><idno type="wicri:Area/Main/Merge">000D09</idno><idno type="wicri:Area/Main/Curation">000D09</idno><idno type="wicri:Area/Main/Exploration">000D09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Lung disease caused by <i>ABCA3</i> mutations.</title><author><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pathology, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pathology, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name><affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name><affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name><affiliation wicri:level="1"><nlm:affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, University Hospital, University Mannheim, Mannheim</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name><affiliation wicri:level="3"><nlm:affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Emma Children's Hospital, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Pediatric Pneumology, Children's Hospital, Lucerne</wicri:regionArea><wicri:noRegion>Lucerne</wicri:noRegion></affiliation></author><author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz</wicri:regionArea><wicri:noRegion>Graz</wicri:noRegion></affiliation></author><author><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg</wicri:regionArea><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion><wicri:noRegion>Oldenburg</wicri:noRegion></affiliation></author><author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name><affiliation wicri:level="3"><nlm:affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name><affiliation wicri:level="1"><nlm:affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Hohentwielstr. 32, 78250 Tengen</wicri:regionArea><wicri:noRegion>78250 Tengen</wicri:noRegion><wicri:noRegion>78250 Tengen</wicri:noRegion><wicri:noRegion>78250 Tengen</wicri:noRegion></affiliation></author><author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld</wicri:regionArea><wicri:noRegion>Bielefeld</wicri:noRegion><wicri:noRegion>Bielefeld</wicri:noRegion><wicri:noRegion>Bielefeld</wicri:noRegion></affiliation></author><author><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author></analytic><series><title level="j">Thorax</title><idno type="eISSN">1468-3296</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (genetics)</term><term>Adolescent</term><term>Adult</term><term>Biopsy</term><term>Bronchoalveolar Lavage Fluid (chemistry)</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>Diagnostic Imaging</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Immunohistochemistry</term><term>Infant</term><term>Infant, Newborn</term><term>Lung Diseases, Interstitial (genetics)</term><term>Lung Diseases, Interstitial (mortality)</term><term>Male</term><term>Microscopy, Electron</term><term>Mutation</term><term>Phenotype</term><term>Retrospective Studies</term><term>Survival Analysis</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de survie</term><term>Biopsie</term><term>Consanguinité</term><term>Diagnostic par imagerie</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Immunohistochimie</term><term>Liquide de lavage bronchoalvéolaire ()</term><term>Microscopie électronique</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (mortalité)</term><term>Transporteurs ABC (génétique)</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term></keywords><keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Bronchoalveolar Lavage Fluid</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Transporteurs ABC</term></keywords><keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="mortalité" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Biopsy</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>Diagnostic Imaging</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Immunohistochemistry</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Microscopy, Electron</term><term>Mutation</term><term>Phenotype</term><term>Retrospective Studies</term><term>Survival Analysis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Analyse de survie</term><term>Biopsie</term><term>Consanguinité</term><term>Diagnostic par imagerie</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Immunohistochimie</term><term>Liquide de lavage bronchoalvéolaire</term><term>Microscopie électronique</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Belgique</li><li>Italie</li><li>Pays-Bas</li><li>Suisse</li><li>Turquie</li></country><region><li>Bade-Wurtemberg</li><li>Basse-Saxe</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Karlsruhe</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Hanovre</li><li>Mannheim</li><li>Munich</li></settlement></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name></region><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name><name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name><name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name></country><country name="Turquie"><noRegion><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name></noRegion><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name></country><country name="Italie"><noRegion><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name></region></country><country name="Suisse"><noRegion><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name></noRegion></country><country name="Autriche"><noRegion><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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