المؤلفون: Cindrić S; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Hjeij R; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Amirav I; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada., Philipsen MC; Danish PCD Centre, ERN Accredited, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Marthin JK; Danish PCD Centre, ERN Accredited, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Nielsen KG; Danish PCD Centre, ERN Accredited, Pediatric Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark., Sutharsan S; Department of Pulmonary Medicine, Ruhrlandklinik, Universitätsmedizin Essen, Essen, Germany; and., Raidt J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Werner C; Department of Pediatrics, HELIOS Hospital Schwerin, Schwerin, Germany., Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Dworniczak B; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Omran H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2020 Mar; Vol. 62 (3), pp. 382-396.

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

بيانات الدورية: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cell Cycle Proteins/*deficiency , Cilia/*chemistry , Ciliary Motility Disorders/*genetics , Microfilament Proteins/*genetics, Axoneme/chemistry ; Axoneme/ultrastructure ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/physiology ; Ciliary Motility Disorders/diagnosis ; Ciliary Motility Disorders/pathology ; Codon, Nonsense ; Cohort Studies ; DNA Mutational Analysis ; Epithelial Cells/cytology ; Epithelial Cells/metabolism ; Female ; Genetic Heterogeneity ; Homozygote ; Humans ; Loss of Function Mutation ; Male ; Microfilament Proteins/physiology ; Microscopy, Electron, Transmission ; Microscopy, Fluorescence ; Mucociliary Clearance/genetics ; Mutation ; Mutation, Missense ; Pedigree ; Primary Cell Culture ; Situs Inversus/diagnosis ; Situs Inversus/genetics ; Situs Inversus/pathology

المؤلفون: Postema MC; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Carrion-Castillo A; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Fisher SE; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Vingerhoets G; Department of Experimental Psychology, Ghent University, Ghent, Belgium., Francks C; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. clyde.francks@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. clyde.francks@mpi.nl.

المصدر: Scientific reports [Sci Rep] 2020 Feb 28; Vol. 10 (1), pp. 3677. Date of Electronic Publication: 2020 Feb 28.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Penetrance*, Carrier Proteins/*genetics , Cilia/*genetics , Membrane Proteins/*genetics , Situs Inversus/*genetics, Adolescent ; Adult ; Female ; Humans ; Kartagener Syndrome/genetics ; Male ; Middle Aged

المؤلفون: Fassad MR; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, 165 El-Horreya Avenue El-Hadra, 21561 Alexandria, Egypt., Shoemark A; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK; School of Medicine, University of Dundee, Dundee DD2 4BF, UK., Legendre M; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France., Hirst RA; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK., Koll F; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France., le Borgne P; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France., Louis B; INSERM U955, Equipe 13, Faculté de Médecine de Créteil, Université Paris Est, 94010 Créteil, France., Daudvohra F; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Patel MP; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Thomas L; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France., Dixon M; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Burgoyne T; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Hayes J; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK., Nicholson AG; Histopathology Department, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Cullup T; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK., Jenkins L; Regional Molecular Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK., Carr SB; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Aurora P; Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK; Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Lemullois M; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France., Aubusson-Fleury A; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France., Papon JF; Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, 94275 Le Kremlin-Bicêtre, France., O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK; Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK., Amselem S; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France., Hogg C; PCD Diagnostic Team and Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London SW3 6NP, UK., Escudier E; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Département de Génétique Médicale, 75012 Paris, France; Sorbonne Universités, Paris 06, INSERM UMR_S933, 75005 Paris, France., Tassin AM; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Univ. Paris Sud, Université Paris-Saclay, 1 Avenue de la Terrasse, 91198 Gif sur Yvette, France., Mitchison HM; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. Electronic address: h.mitchison@ucl.ac.uk.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 Dec 06; Vol. 103 (6), pp. 984-994. Date of Electronic Publication: 2018 Nov 21.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Axonemal Dyneins/*genetics , Cilia/*genetics , Dyneins/*genetics , Mutation/*genetics , Situs Inversus/*genetics, Adolescent ; Amino Acid Sequence ; Child ; Child, Preschool ; Ciliary Motility Disorders/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Male ; Respiratory System/pathology ; Sequence Alignment

المؤلفون: Sutherland MJ; Divisions of Molecular Cardiovascular Biology, Human Genetics, and Cardiology at Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Ware SM

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2009 Nov 15; Vol. 151C (4), pp. 307-17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Body Patterning/*genetics , Cilia/*pathology , Ciliary Motility Disorders/*genetics , Congenital Abnormalities/*genetics , Situs Inversus/*diagnosis, Animals ; Congenital Abnormalities/pathology ; Female ; Functional Laterality ; Gene Expression Regulation ; Humans ; Male ; Models, Biological ; Models, Genetic ; Phenotype ; Situs Inversus/genetics

المؤلفون: Alessandri JL; Centre de Diagnostic Prénatal, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France. alessandri@chd-fguyon.fr, Cartault F, Brayer C, Cuillier F, Rivière JP, Ramful D, Gubler MC

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2009 Oct; Vol. 18 (4), pp. 209-12.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Siblings*, Bile Ducts/*abnormalities , Bone Diseases/*complications , Cilia/*pathology , Femur/*abnormalities , Kidney Diseases, Cystic/*complications , Kidney Diseases, Cystic/*pathology , Situs Inversus/*complications, Adult ; Bone Diseases/congenital ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Femur/diagnostic imaging ; Humans ; Kinesins/genetics ; Male ; Pregnancy ; Radiography ; Reunion ; Situs Inversus/pathology

المؤلفون: Brody SL; Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA. brodys@msnotes.wustl.edu, Yan XH, Wuerffel MK, Song SK, Shapiro SD

المصدر: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2000 Jul; Vol. 23 (1), pp. 45-51.

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

بيانات الدورية: Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Print ISSN: 1044-1549 (Print) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cilia/*pathology , Respiratory System/*embryology , Respiratory System/*pathology , Situs Inversus/*pathology, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/pathology ; Animals ; Brain/abnormalities ; Centrioles/metabolism ; Centrioles/pathology ; Centrioles/ultrastructure ; Cilia/metabolism ; Cilia/ultrastructure ; Embryonic and Fetal Development ; Epithelial Cells/metabolism ; Epithelial Cells/pathology ; Epithelial Cells/ultrastructure ; Female ; Gene Deletion ; Histocytochemistry ; Magnetic Resonance Imaging ; Male ; Mice ; Mice, Knockout ; Microscopy, Electron ; Microtubules/metabolism ; Microtubules/pathology ; Microtubules/ultrastructure ; Microvilli/metabolism ; Microvilli/pathology ; Microvilli/ultrastructure ; Phenotype ; Respiratory System/metabolism ; Respiratory System/ultrastructure ; Situs Inversus/genetics ; Situs Inversus/metabolism ; Trachea/abnormalities ; Trachea/metabolism ; Trachea/pathology ; Trachea/ultrastructure

المؤلفون: Moalem S; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jul; Vol. 161A (7), pp. 1792-6. Date of Electronic Publication: 2013 May 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Cilia/*pathology , Kidney/*abnormalities , Kidney Diseases, Cystic/*genetics , Transcription Factors/*genetics, Female ; Homozygote ; Humans ; Kidney/embryology ; Kidney Diseases, Cystic/diagnostic imaging ; Male ; Pregnancy ; RNA Splice Sites ; Respiratory Mucosa/pathology ; Situs Inversus/genetics ; Situs Inversus/pathology ; Ultrasonography, Prenatal

SCR Disease Name: Nephronophthisis 2

المؤلفون: Kinzel D; Institute of Stem Cell Research, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Boldt K, Davis EE, Burtscher I, Trümbach D, Diplas B, Attié-Bitach T, Wurst W, Katsanis N, Ueffing M, Lickert H

المصدر: Developmental cell [Dev Cell] 2010 Jul 20; Vol. 19 (1), pp. 66-77.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print Cited Medium: Internet ISSN: 1878-1551 (Electronic) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

مواضيع طبية MeSH: Body Patterning/*genetics , Body Patterning/*physiology , Cilia/*genetics , Cilia/*physiology , Homeodomain Proteins/*genetics , Homeodomain Proteins/*physiology, Amino Acid Sequence ; Animals ; Aurora Kinase A ; Aurora Kinases ; Centrosome/ultrastructure ; Cilia/ultrastructure ; Double Outlet Right Ventricle/genetics ; Female ; Genes, Homeobox ; Heterozygote ; Humans ; Kidney Diseases, Cystic/embryology ; Kidney Diseases, Cystic/genetics ; Liver/abnormalities ; Male ; Mice ; Mice, Mutant Strains ; Mice, Transgenic ; Microscopy, Electron, Scanning ; Molecular Sequence Data ; Mutation ; Phenotype ; Pregnancy ; Protein Serine-Threonine Kinases/physiology ; Sequence Homology, Amino Acid ; Situs Inversus/embryology ; Situs Inversus/genetics

المؤلفون: Zhou W; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA., Dai J, Attanasio M, Hildebrandt F

المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2010 Jul; Vol. 299 (1), pp. F55-62. Date of Electronic Publication: 2010 May 12.

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

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Cilia/*metabolism , Kidney/*metabolism , Kinesins/*metabolism , Zebrafish/*metabolism , Zebrafish Proteins/*metabolism, Amino Acid Sequence ; Animals ; Cell Line ; Dogs ; Embryo, Nonmammalian/abnormalities ; Embryo, Nonmammalian/metabolism ; Gastrulation ; Gene Expression Regulation, Developmental ; Gene Knockdown Techniques ; Genotype ; Humans ; Hydrocephalus/genetics ; Hydrocephalus/metabolism ; Kidney/abnormalities ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/metabolism ; Kinesins/genetics ; Molecular Sequence Data ; Morpholines/metabolism ; Oligonucleotides/metabolism ; Phenotype ; Situs Inversus/genetics ; Situs Inversus/metabolism ; Tubulin/metabolism ; Zebrafish/abnormalities ; Zebrafish/genetics ; Zebrafish Proteins/genetics

المؤلفون: Hildebrandt F; Department of Pediatrics, Howard Hughes Medical Institute, University of Michigan Health System, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5646, USA. fhilde@umich.edu, Attanasio M, Otto E

المصدر: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2009 Jan; Vol. 20 (1), pp. 23-35. Date of Electronic Publication: 2008 Dec 31.

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

بيانات الدورية: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Cilia/*pathology , Kidney Diseases, Cystic/*etiology, Adaptor Proteins, Signal Transducing/genetics ; Calmodulin-Binding Proteins/genetics ; Cell Polarity ; Cytoskeletal Proteins ; Humans ; Kidney Diseases, Cystic/pathology ; Kinesins/genetics ; Kruppel-Like Transcription Factors/physiology ; Liver Cirrhosis/etiology ; Liver Cirrhosis/genetics ; Membrane Proteins/genetics ; Proteins/genetics ; Retinal Degeneration/etiology ; Retinal Degeneration/genetics ; Situs Inversus/etiology ; Situs Inversus/genetics ; Transcription Factors/physiology