Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Autor: Raidt J; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Riepenhausen S; Institute of Medical Informatics, University of Muenster, Muenster, Germany., Pennekamp P; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Olbrich H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Amirav I; Department of Pediatrics, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Athanazio RA; Pulmonary Division - Heart Institute, Hospital das Clínicas da Faculdade de São Paulo, São Paulo, Brazil., Aviram M; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Israel.; Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Balinotti JE; Respiratory Center, Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina., Bar-On O; Pulmonary Institute, Schneider Children's Medical Center of Israel, Petach-Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bode SFN; Center for Pediatrics - Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Pediatric and Adolescent Medicine, University Hospital Ulm, Ulm, Germany., Boon M; Department of Paediatrics, University Hospital, Leuven, Belgium., Borrelli M; Department of Translational Medical Sciences, Pediatric Pulmonology, Federico II University, Naples, Italy., Carr SB; Department of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK., Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway., Dehlink E; Division of Pediatric Pulmonology, Allergy and Endocrinology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Diepenhorst S; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Durdik P; Department of Paediatrics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin, Martin, Slovakia., Dworniczak B; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Emiralioğlu N; Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Erdem E; Department of Pediatric Pulmonology, Marmara University School of Medicine, Istanbul, Turkey., Fonnesu R; Department of Paediatrics, University Hospital of Pisa, Pisa, Italy., Gracci S; Department of Paediatrics, University Hospital of Pisa, Pisa, Italy., Große-Onnebrink J; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Gwozdziewicz K; Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland., Haarman EG; Department of Pediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Hansen CR; Department of Pediatrics, Institution of Clinical Sciences, Lund University, Lund, Sweden.; Section for Lung Medicine, Metabolism and Neurology, Pediatrics Clinic, Skane University Hospital, Lund, Sweden., Hogg C; Department of Paediatric Respiratory Medicine and Primary Ciliary Dyskinesia Centre, Royal Brompton Hospital and National Heart and Lung Institute, Imperial College London, London, UK., Holgersen MG; Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Kerem E; Department of Pediatrics and Pediatric Pulmonology, Hadassah Hebrew University Medical Center, Jerusalem, Israel., Körner RW; Department of Pediatrics, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany., Kötz K; Department of Pediatrics, Queen Silvias Children Hospital, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden., Kouis P; Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus., Loebinger MR; Royal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK., Lorent N; Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.; Department Chrometa, BREATHE Laboratory, Katholieke Universiteit Leuven, Leuven, Belgium., Lucas JS; Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Maj D; Department of Paediatrics, University Hospital of Pisa, Pisa, Italy., Mall MA; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Center for Lung Research (DZL), associated partner site, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Marthin JK; Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Martinu V; Department of Paediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Mazurek H; Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland., Mitchison HM; Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK., Nöthe-Menchen T; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany., Özçelik U; Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Pifferi M; Department of Paediatrics, University Hospital of Pisa, Pisa, Italy., Pogorzelski A; Department of Pneumology and Cystic Fibrosis, Institute of Tuberculosis and Lung Diseases, Rabka, Poland., Ringshausen FC; Department of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany.; Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany., Roehmel JF; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; German Center for Lung Research (DZL), associated partner site, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Rovira-Amigo S; Paediatric Pulmonology Section, Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Rumman N; Department of Pediatrics, Faculty of Medicine, Makassed Hospital, Al-Quds University, East Jerusalem, Palestine.; Section of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA., Schlegtendal A; University Children's Hospital, Ruhr University Bochum, Katholisches Klinikum Bochum, Bochum, Germany., Shoemark A; Royal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College London, London, UK.; Division of Molecular and Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK., Sperstad Kennelly S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway., Staar BO; Department of Respiratory Medicine, Hannover Medical School (MHH), Hannover, Germany.; Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany., Sutharsan S; Department of Pulmonary Medicine, Adult Cystic Fibrosis Center, University Hospital Essen - Ruhrlandklinik, University of Duisburg-Essen, Essen, Germany., Thomas S; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.; Human Genetics and Genomic Medicine, University of Southampton Faculty of Medicine, Southampton, UK., Ullmann N; Pneumology and Cystic Fibrosis Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy., Varghese J; Institute of Medical Informatics, University of Muenster, Muenster, Germany., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Walker WT; Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton, UK.; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Wetzke M; Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research (DZL), Hannover, Germany.; Department of Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.; Airway Research Center North (ARCN) Lübeck, German Center for Lung Research (DZL), Lübeck, Germany., Witt M; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Yiallouros P; Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.; Pediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus., Zschocke A; Department of Pediatric and Adolescent Medicine, Pediatrics III, Medical University, Innsbruck, Austria., Ziętkiewicz E; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland., Nielsen KG; Danish Primary Ciliary Dyskinesia Centre, Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany Heymut.Omran@ukmuenster.de.

Publikováno v: The European respiratory journal [Eur Respir J] 2024 Aug 08; Vol. 64 (2). Date of Electronic Publication: 2024 Aug 08 (Print Publication: 2024).

Clinical, functional, and computed tomography findings in a cohort of patients with neuroendocrine cell hyperplasia of infancy.

Autor: Balinotti JE; Department of Medicine, Respiratory Center, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina., Maffey A; Department of Medicine, Respiratory Center, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Colom A; Department of Medicine, Respiratory Center, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Roldán O; Division of Pediatric, Sanatorio del Salvador, Córdoba, Argentina., Díaz W; Division of Pediatric, Alexander Fleming Hospital, Mendoza, Argentina., Medín M; Department of Pathology, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Racimo M; Department of Medicine, Respiratory Center, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Teper A; Department of Medicine, Respiratory Center, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.

Publikováno v: Pediatric pulmonology [Pediatr Pulmonol] 2021 Jun; Vol. 56 (6), pp. 1681-1686. Date of Electronic Publication: 2021 Feb 23.

Course of lung function in children with cystic fibrosis in their first 3 years of life.

Autor: Balinotti JE; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires.; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina. juanbalinotti@gmail.com., Chang DV; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Lubovich S; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Rodríguez V; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Zaragoza S; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Escobar N; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Kofman C; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires., Pérez GL; Área de Investigación no patrocinada, Departamento de Investigación, Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires., Ardiles V; Área de Investigación no patrocinada, Departamento de Investigación, Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires., Teper A; Centro Respiratorio 'Dr. Alberto R. Álvarez', Hospital de Niños Ricardo Gutiérrez, Ciudad Autónoma de Buenos Aires.

Publikováno v: Archivos argentinos de pediatria [Arch Argent Pediatr] 2019 Oct 01; Vol. 117 (5), pp. 323-329.

Growth of lung parenchyma in infants and toddlers with chronic lung disease of infancy.

Autor: Balinotti JE; Department of Pediatrics, Indiana University Medical Center, James Whitcomb Riley Hospital for Children, 702 Barnhill Drive, Indianapolis, IN 46202-5225, USA., Chakr VC, Tiller C, Kimmel R, Coates C, Kisling J, Yu Z, Nguyen J, Tepper RS

Publikováno v: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2010 May 15; Vol. 181 (10), pp. 1093-7. Date of Electronic Publication: 2010 Feb 04.