Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Kasmi, I."'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 27, Iss 1, Pp 31-36 (2024)
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present
Externí odkaz:
https://doaj.org/article/c369a5830bb64f6f8b1a19804c54be23
Autor:
Bourdiec A; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., Messaoudi S; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., El Kasmi I; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., Chow-Shi-Yée M; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., Kadoch E; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., Stebenne ME; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada., Tadevosyan A; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada.; Department of Pharmacology and Physiology, Université de Montreal, Montreal, QC, Canada., Kadoch IJ; Clinique ovo, 8000 Boul. Décarie, Montreal, QC, H4P 2S4, Canada. j.kadoch@cliniqueovo.com.; Department of Obstetrics and Gynecology, Université de Montreal, Montreal, QC, Canada. j.kadoch@cliniqueovo.com.
Publikováno v:
Biochemical genetics [Biochem Genet] 2024 Nov 03. Date of Electronic Publication: 2024 Nov 03.
Akademický článek
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Publikováno v:
Clinical laboratory [Clin Lab] 2023 Aug 01; Vol. 69 (8).
Publikováno v:
In Journal of Cystic Fibrosis June 2023 22 Supplement 2:S149-S150
P028 Cystic fibrosis mutation pattern in 2019 in Albania: getting closer to the personalised therapy
Publikováno v:
In Journal of Cystic Fibrosis June 2023 22 Supplement 2:S72-S72
Publikováno v:
BMC Proceedings, Vol 5, Iss Suppl 6, p P202 (2011)
Externí odkaz:
https://doaj.org/article/bbbf2e221be04a36a1aaba93957c1d21
Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe.
Autor:
Jung A; Paediatric Pulmonology, University Children's Hospital Zurich, Zurich, Switzerland.; Co-first authors., Orenti A; Dept of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Epidemiology and Biometry G.A. Maccacaro, University of Milan, Milan, Italy.; Co-first authors., Dunlevy F; European Cystic Fibrosis Society, Karup, Denmark.; Co-first authors., Aleksejeva E; Dept of Pneumology, Children's Clinical University Hospital, Rīga Stradinš University, Riga, Latvia., Bakkeheim E; Dept of Paediatrics, Norwegian Cystic Fibrosis Registry, Oslo University Hospital, Oslo, Norway., Bobrovnichy V; Belarusian Republic Children's Center of Pulmonology and Cystic Fibrosis, Pulmonary Department, 3rd City Children's Clinical Hospital, Minsk, Belarus., Carr SB; Dept of Respiratory Paediatrics, Royal Brompton Hospital, London, UK.; NHLI, Imperial College, London, UK., Colombo C; Dept of Pathophysiology and Transplantation, Cystic Fibrosis Reference Center of Lombardia Region, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Corvol H; Pediatric Pulmonology Dept and Cystic Fibrosis Center, Sorbonne Université, Centre de Recherche Saint-Antoine, Inserm UMR_S938, Assistance Publique-Hôpitaux de Paris, Hôpital Trousseau, Paris, France., Cosgriff R; Cystic Fibrosis Trust, London, UK., Daneau G; Sciensano, Epidemiology and Public Health, Health Services Research, Brussels, Belgium., Dogru D; Cystic Fibrosis Registry of Turkey, Ankara, Turkey., Drevinek P; Dept of Medical Microbiology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Vukic AD; University Hospital Centre Zagreb, Cystic Fibrosis Centre - Paediatrics and Adults, Zagreb, Croatia., Fajac I; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; AP-HP, Hôpital Cochin, Service de Physiologie et Explorations Fonctionnelles, Paris, France., Fox A; European Cystic Fibrosis Society, Karup, Denmark., Fustik S; Centre for Cystic Fibrosis, University Children's Hospital, Skopje, North Macedonia., Gulmans V; Dutch Cystic Fibrosis Foundation (NCFS), Baarn, The Netherlands., Harutyunyan S; Yerevan University CF Centre, Muratsan Hospital, Yerevan, Armenia., Hatziagorou E; Cystic Fibrosis Unit, Hippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece., Kasmi I; Dept of Paediatrics, 'Mother Thereza' Hospital Center, Tirana, Albania., Kayserová H; Cystic Fibrosis Centre, University Hospital of Bratislava, Bratislava, Slovakia., Kondratyeva E; Clinical Research Dept of Cystic Fibrosis 'Research Centre for Medical Genetics', Moscow, Russian Federation., Krivec U; Dept of Paediatric Pulmonology, University Children's Hospital, Ljubljana University Medical Centre, Ljubljana, Slovenia., Makukh H; Institute of Hereditary Pathology, Ukrainian National Academy of Medical Sciences, Lviv, Ukraine., Malakauskas K; Adult Cystic Fibrosis Center, Dept of Pulmonology, Lithuanian University of Health Sciences, Kaunas, Lithuania., McKone EF; St Vincent's University Hospital & University College Dublin School of Medicine, Dublin, Ireland., Mei-Zahav M; Pulmonary Institute, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., de Monestrol I; Stockholm CF Centre, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden., Olesen HV; Dept of Pediatrics and Adolescent Medicine, Cystic Fibrosis Center, Aarhus University Hospital, Aarhus, Denmark., Padoan R; Dept of Paediatrics, Cystic Fibrosis Regional Support Centre, University of Brescia, Brescia.; Scientific Board of Italian CF Registry, Rome, Italy., Parulava T; I. Tsitsishvili Children's Clinic, CF Centre, Tblisi, Georgia., Pastor-Vivero MD; Pediatric Pneumology and Cystic Fibrosis Unit, Osakidetza, Hospital Universitario Cruces, Bizkaia, Spain., Pereira L; Centre for Cystic Fibrosis, Hospital de Santa Maria, Lisbon, Portugal., Petrova G; Pediatric Clinic, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria., Pfleger A; Dept of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria., Pop L; Victor Babes University of Medicine and Pharmacy Timisoara, National Cystic Fibrosis Centre, Timisoara, Romania., van Rens JG; European Cystic Fibrosis Society, Karup, Denmark., Rodic M; National Centre for Cystic Fibrosis, Mother and Child Health Institute of Serbia 'Dr Vukan Čupić', Belgrade, Serbia., Schlesser M; Dept of Pulmonology, Hôpital Robert Schuman, Luxembourg, Luxembourg., Storms V; Cystic Fibrosis Europe, Brussels, Belgium., Turcu O; Dept of Pediatrics, Ambulatory Cystic Fibrosis and Other Rare Diseases Center, Institute for Maternal and Child Healthcare, State University of Medicine and Pharmacy 'Nicolae Testemitanu', Chisinau, Republic of Moldova., Woz Niacki L; Dziekanow Paediatric Hospital, Cystic Fibrosis Centre, Institute of Mother and Child, Warsaw, Poland., Yiallouros P; Medical School, University of Cyprus, Nicosia, Cyprus., Zolin A; Dept of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Epidemiology and Biometry G.A. Maccacaro, University of Milan, Milan, Italy., Downey DG; Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK.; Regional Respiratory Centre, Belfast City Hospital, Belfast, UK.; Co-senior authors., Naehrlich L; Dept of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Epidemiology and Biometry G.A. Maccacaro, University of Milan, Milan, Italy.; Universities of Giessen and Marburg Lung Center, German Center of Lung Research, Justus-Liebig-University Giessen, Giessen, Germany.; Co-senior authors.
Publikováno v:
ERJ open research [ERJ Open Res] 2021 Dec 27; Vol. 7 (4). Date of Electronic Publication: 2021 Dec 27 (Print Publication: 2021).
Publikováno v:
In Journal of Cystic Fibrosis 2021 20 Supplement 1:S89-S90
Autor:
Naehrlich L; Universities of Giessen and Marburg Lung Center, German Center of Lung Research, Justus-Liebig-University Giessen, Giessen, Germany., Orenti A; Department of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Epidemiology and Biometry G. A. Maccacaro, University of Milan, Milan, Italy., Dunlevy F; European Cystic Fibrosis Society, Karup, Denmark., Kasmi I; 'Mother Thereza' Hospital Center, Department of Paediatrics, Tirana, Albania., Harutyunyan S; Yerevan University CF Centre, Muratsan Hospital, Yerevan, Armenia., Pfleger A; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria., Keegan S; Belarusian Republic Children's Center of Pulmonology and Cystic Fibrosis, Pulmonary Department, 3rd City Children's Clinical Hospital, Minsk, Belarus., Daneau G; Sciensano, Epidemiology and public health, Health services research, Brussels, Belgium., Petrova G; Alexandrovska University Hospital, Pediatric Clinic, Sofia, Bulgaria., Tješić-Drinković D; University Hospital Centre Zagreb, Cystic Fibrosis Centre - Paediatrics and Adults, Zagreb, Croatia., Yiallouros P; Medical School, University of Cyprus, Nicosia, Cyprus., Bilkova A; Cystic Fibrosis Registry of the Czech Republic, Prague, Czech Republic., Olesen HV; Department of Pediatrics and Adolescent Medicine, Cystic Fibrosis Center, Aarhus University Hospital, Aarhus, Denmark., Burgel PR; Respiratory Medicine and National Cystic Fibrosis Reference Center, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, Institut Cochin, INSERM U1016, Paris, France., Parulava T; I. Tsitsishvili Children's Clinic, CF Centre, Tblisi, Georgia., Diamantea F; Sismanoglio General Hospital of Attica, Adult Cystic Fibrosis Unit, Athens, Greece., Párniczky A; Heim Pál National Pediatric Institute, Budapest, Hungary; Institute for Translational Medicine, University of Pécs, Medical School, Pécs, Hungary., McKone EF; St. Vincent's University Hospital & University College Dublin School of Medicine, Dublin, Ireland., Mei-Zahav M; Pulmonary Institute, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Salvatore M; Undiagnosed Rare Diseases Interdepartmental Unit, National Center Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Colombo C; Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Department of Pathophysiology and Transplantation, Milan, Italy., Aleksejeva E; Department of Pneumology, Children's Clinical University Hospital, Rīga Stradinš University, Riga, Latvia., Malakauskas K; Adult Cystic Fibrosis center, Department of Pulmonology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Schlesser M; Department of Pulmonology, Hôpital Robert Schuman, Luxembourg, Luxembourg., Fustik S; Centre for Cystic Fibrosis, University Children's Hospital, Skopje, North Macedonia., Turcu O; Ambulatory Cystic Fibrosis and Other Rare Diseases Center, Institute for Maternal and Child Healthcare, State University of Medicine and Pharmacy 'Nicolae Testemitanu', Department of Pediatrics, Chisinau, Republic of Moldova., Zomer-van Ommen D; Dutch Cystic Fibrosis Foundation (NCFS), Baarn, The Netherlands., Wathne AS; Norwegian Resource Centre for Cystic Fibrosis, Oslo University Hospital, Oslo, Norway., Woźniacki Ł; Dziekanow Paediatric Hospital, Cystic Fibrosis Centre, Institute of Mother and Child, Warsaw, Poland., Pereira L; Centre for Cystic Fibrosis, Hospital de Santa Maria, Lisbon, Portugal., Pop L; Victor Babes University of Medicine and Pharmacy Timisoara, National Cystic Fibrosis Centre Timisoara, Romania., Kashirskaya N; Laboratory of genetic epidemiology, 'Research Centre for Medical Genetics', Moscow, Russian Federation., Rodić M; National Centre for Cystic Fibrosis, Mother and Child Health Institute of Serbia 'Dr Vukan Čupić', Belgrade, Serbia., Kayserova H; Cystic Fibrosis Centre, University Hospital of Bratislava, Bratislava, Slovakia., Krivecs U; Department of Paediatric Pulmonology, University Children's Hospital, Ljubljana University Medical Centre, Ljubljana, Slovenia., Mondejar-Lopez P; Pediatric Pulmonology and Cystic Fibrosis Unit, Virgen de la Arrixaca Clinic University Hospital, Murcia, Spain., de Monestrol I; Stockholm CF centre, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden., Dogru D; Cystic Fibrosis Registry of Turkey, Ankara, Turkey., Makukh H; Institute of Hereditary Pathology Ukrainian National Academy of Medical Sciences, Lviv, Ukraine., Cosgriff R; Cystic Fibrosis Trust, London, UK., van Koningsbruggen-Rietschel S; CF-Center, University of Cologne, Faculty of Medicine, Cologne, Germany., Jung A; Paediatric Pulmonology, University Children`s Hospital Zurich, Zurich, Switzerland.
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2021 Jul; Vol. 20 (4), pp. 566-577. Date of Electronic Publication: 2021 Apr 18.