المؤلفون: Junior JHMF; Metropolitan Union of Education and Culture, Salvador, Brazil. jefferson_heber@hotmail.com., Junior SP; Bahiana School of Medicine and Public Health, Salvador, Brazil., Pustilnik HN; Salvador University, Salvador, Brazil., de Almeida Leão L; Bahiana School of Medicine and Public Health, Salvador, Brazil., da Paz MGDS; General Hospital Roberto Santos, Salvador, Brazil., Araujo TB; General Hospital Roberto Santos, Salvador, Brazil., de Deus FOG; General Hospital Roberto Santos, Salvador, Brazil., Alcântara T; General Hospital Roberto Santos, Salvador, Brazil., Dourado JC; General Hospital Roberto Santos, Salvador, Brazil., de Avellar LM; General Hospital Roberto Santos, Salvador, Brazil.

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jul; Vol. 40 (7), pp. 2161-2168. Date of Electronic Publication: 2024 Mar 09.

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Encephalocele*/surgery , Encephalocele*/diagnostic imaging , Retinitis Pigmentosa*/surgery , Neurosurgical Procedures*/methods , Ciliary Motility Disorders*/surgery , Ciliary Motility Disorders*/genetics , Polycystic Kidney Diseases*/surgery , Polycystic Kidney Diseases*/genetics, Humans ; Eye Abnormalities/surgery ; Infant, Newborn

SCR Disease Name: Meckel syndrome type 1

المؤلفون: 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.

مؤلفون مشاركون: Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46

المصدر: Science (New York, N.Y.) [Science] 2024 Apr 26; Vol. 384 (6694), pp. eadf5489. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Axoneme*/metabolism , Centrioles*/metabolism , Cilia*/metabolism , Ciliary Motility Disorders*/genetics , Ciliary Motility Disorders*/metabolism , Tubulin*/genetics , Tubulin*/metabolism, Animals ; Humans ; Mice ; Mutation ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Male ; Female ; Mice, Knockout

المؤلفون: Gatt D; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel dvirgatt@gmail.com.; Ben-Gurion University of the Negev, Beer Sheva, Israel., Golan Tripto I; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel.; Ben-Gurion University of the Negev, Beer Sheva, Israel., Levanon E; Ben-Gurion University of the Negev, Beer Sheva, Israel., Arwas N; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel.; Ben-Gurion University of the Negev, Beer Sheva, Israel., Hazan G; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel.; Ben-Gurion University of the Negev, Beer Sheva, Israel., Alkrinawi S; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel., Goldbart AD; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel.; Ben-Gurion University of the Negev, Beer Sheva, Israel., Aviram M; Pediatric Pulmonary Unit, Soroka Medical Center, Beer Sheva, Southern, Israel.; Ben-Gurion University of the Negev, Beer Sheva, Israel.

المصدر: Archives of disease in childhood [Arch Dis Child] 2024 Apr 18; Vol. 109 (5), pp. 428-431. Date of Electronic Publication: 2024 Apr 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , Ciliary Motility Disorders*/diagnosis , Ciliary Motility Disorders*/genetics, Humans ; Consanguinity ; Mutation

المؤلفون: Pifferi M; Department of Pediatrics, University Hospital of Pisa, Pisa, Italy., Boner AL; Pediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Pediatrics, Verona University Medical School, Verona, Italy., Cangiotti A; Electron Microscopy Unit, Department of Experimental and Clinical Medicine, University Hospital of Ancona, Ancona, Italy., Cudazzo A; Department of Computer Science, University of Pisa, Pisa, Italy., Maj D; Department of Pediatrics, University Hospital of Pisa, Pisa, Italy., Gracci S; Department of Pediatrics, University Hospital of Pisa, Pisa, Italy., Michelucci A; Unit of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Bertini V; Section of Cytogenetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Piazza M; Pediatric Unit, Department of Surgical Science, Dentistry, Gynecology and Pediatrics, Verona University Medical School, Verona, Italy., Valetto A; Section of Cytogenetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Caligo MA; Unit of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy., Peroni D; Department of Pediatrics, University Hospital of Pisa, Pisa, Italy., Bush A; Department of Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Apr; Vol. 59 (4), pp. 891-898. Date of Electronic Publication: 2024 Jan 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Kartagener Syndrome*/diagnosis , Kartagener Syndrome*/genetics , Ciliary Motility Disorders*/diagnosis , Ciliary Motility Disorders*/genetics, Humans ; Soft Computing ; Cilia/genetics ; Cilia/ultrastructure ; Microscopy, Video ; Microscopy, Electron, Transmission

المؤلفون: Chaskes MB; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Lopez EM; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Kong KA; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Ebert CS Jr; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Senior BA; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Thorp BD; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Kimple AJ; Department of Otolaryngology/Head & Neck Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

المصدر: International forum of allergy & rhinology [Int Forum Allergy Rhinol] 2024 Apr; Vol. 14 (4), pp. 866-869. Date of Electronic Publication: 2023 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Published for ARS-AAOA by Wiley-Blackwell Country of Publication: United States NLM ID: 101550261 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2042-6984 (Electronic) Linking ISSN: 20426976 NLM ISO Abbreviation: Int Forum Allergy Rhinol Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders*/diagnosis , Kartagener Syndrome*/diagnosis, Humans

المؤلفون: Deng T; Reproductive Medical Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China., Xie Y; Neonatal Screening Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2343. Date of Electronic Publication: 2023 Dec 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Polycystic Kidney Diseases*/genetics , Polycystic Kidney Diseases*/pathology , Ciliary Motility Disorders*/genetics , Ciliary Motility Disorders*/pathology , Retinitis Pigmentosa*, Humans ; Encephalocele/genetics ; Mutation

SCR Disease Name: Meckel syndrome type 1

المؤلفون: Koucký V; Department of Paediatrics, Charles University and University Hospital Motol, Praha 5, Czech Republic., Martinů V; Department of Paediatrics, Charles University and University Hospital Motol, Praha 5, Czech Republic., Koucký M; Department of Mathematics, Faculty of Science, Humanities and Education, Technical University of Liberec, Liberec, Czech Republic.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Apr; Vol. 59 (4), pp. 1124-1127. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Letter

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Kartagener Syndrome*/complications , Ciliary Motility Disorders*/complications, Infant ; Humans ; Czech Republic/epidemiology ; Cilia ; Lung

المؤلفون: Gaston B; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States., Smith LA; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States., Davis MD; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States., Saunders J; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States., Daniels I; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States., Horani A; Department of Medicine, Washington University, St. Louis, Missouri, United States., Brody SL; Department of Medicine, Washington University, St. Louis, Missouri, United States., Giddings O; Department of Medicine, Case Western Reserve University, Cleveland, Ohio, United States., Zhao Y; Department of Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, Indiana, United States., Marozkina N; Herman B. Wells Center for Pediatric Research, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana, United States.

المصدر: American journal of physiology. Lung cellular and molecular physiology [Am J Physiol Lung Cell Mol Physiol] 2024 Apr 01; Vol. 326 (4), pp. L468-L476. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901229 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1504 (Electronic) Linking ISSN: 10400605 NLM ISO Abbreviation: Am J Physiol Lung Cell Mol Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders* , Kartagener Syndrome*/metabolism, Humans ; Hydrogen Peroxide ; Nitrosative Stress ; Breath Tests ; Nitric Oxide/metabolism ; Biomarkers/metabolism

المؤلفون: Baz-Redón N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Sánchez-Bellver L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain., Fernández-Cancio M; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Rovira-Amigo S; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain., Burgoyne T; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Ranjit R; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK., Aquino V; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Toro-Barrios N; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Polverino E; Pneumology Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pneumology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain., Cols M; Paediatric Pulmonology Department and Cystic Fibrosis Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain., Moreno-Galdó A; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Department of Paediatrics, Obstetrics, Gynecology, Preventive Medicine and Public Health, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Camats-Tarruella N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Marfany G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain.; Institute of Biomedicine (IBUB-IRSJD), Universitat de Barcelona, 08028 Barcelona, Spain.

المصدر: Cells [Cells] 2024 Mar 16; Vol. 13 (6). Date of Electronic Publication: 2024 Mar 16.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders*/genetics , Retinitis Pigmentosa*/genetics, Humans ; Male ; Eye Proteins/metabolism ; Genes, Modifier ; Mutation

المؤلفون: Shigemasa R; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Masuko H; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Oshima H; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Hyodo K; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Kitazawa H; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Kanazawa J; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Yatagai Y; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Iijima H; Tsukuba Medical Center, Tsukuba, Japan., Naito T; Tsukuba Medical Center, Tsukuba, Japan., Saito T; National Hospital Organization Ibaraki Higashi National Hospital, Tokai, Japan., Konno S; Department of Respiratory Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan., Hirota T; Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan., Tamari M; Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan., Sakamoto T; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Hizawa N; Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.

المصدر: PloS one [PLoS One] 2024 Mar 08; Vol. 19 (3), pp. e0300000. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Asthma*/pathology , Ciliary Motility Disorders*, Adult ; Humans ; Female ; Male ; Genetic Risk Score ; Lung/pathology ; Mucociliary Clearance