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: Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ

المصدر: American journal of human genetics [Am J Hum Genet] 1998 Jun; Vol. 62 (6), pp. 1551-5.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Chromosomes, Human, Pair 7*, Abnormalities, Multiple/*genetics , Kartagener Syndrome/*genetics , Situs Inversus/*genetics, Humans ; Infant ; Ploidies ; Radiography ; Situs Inversus/diagnostic imaging

المؤلفون: Vetrini F; Baylor Genetics, Houston, TX 77030, USA., D'Alessandro LC; Division of Cardiology, Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Braxton A; Baylor Genetics, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Miller K; Albany Medical Center, Albany, NY 12208, USA., Kois C; Albany Medical Center, Albany, NY 12208, USA., Sack V; Albany Medical Center, Albany, NY 12208, USA., Shur N; Albany Medical Center, Albany, NY 12208, USA., Rijhsinghani A; Albany Medical Center, Albany, NY 12208, USA., Chandarana J; Baylor Genetics, Houston, TX 77030, USA., Ding Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Holtzman J; Genetics Department, Kaiser Permanente Medical Group, San Jose, CA 95123, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Eng CM; Baylor Genetics, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hanchard NA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Yang Y; Baylor Genetics, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: yapingy@bcm.edu.

المصدر: American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 886-893. Date of Electronic Publication: 2016 Sep 08.

نوع المنشور: Journal Article

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: Alleles* , Mutation*, Functional Laterality/*genetics , Membrane Proteins/*genetics , Situs Inversus/*genetics, Amino Acid Motifs ; Amino Acid Sequence ; Animals ; Caenorhabditis elegans/genetics ; Cysteine/genetics ; Exome/genetics ; Female ; Fetal Diseases/genetics ; Heart Defects, Congenital/genetics ; Heterotaxy Syndrome ; Homozygote ; Humans ; Infant, Newborn ; Introns/genetics ; Male ; Membrane Proteins/chemistry ; Mice ; Middle Aged ; Models, Molecular ; Mutation, Missense ; Oryzias/genetics ; Pedigree ; RNA Splicing/genetics

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: Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany., Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H

مؤلفون مشاركون: UK10K Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2012 Oct 05; Vol. 91 (4), pp. 672-84. Date of Electronic Publication: 2012 Sep 27.

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: Genes, Recessive* , Mutation*, Kartagener Syndrome/*genetics , Microfilament Proteins/*genetics, Adult ; Base Sequence ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 16 ; Cilia/genetics ; DNA Mutational Analysis/methods ; Female ; Genetic Loci/genetics ; Genetic Predisposition to Disease ; Haplotypes ; Homozygote ; Humans ; Hydrocephalus/genetics ; Male ; Molecular Sequence Data ; Pedigree ; RNA Splicing/genetics ; Siblings ; Situs Inversus/genetics

المؤلفون: TORGERSEN J

المصدر: American journal of human genetics [Am J Hum Genet] 1950 Dec; Vol. 2 (4), pp. 361-70.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: OLDMEDLINE

مواضيع طبية MeSH: Genetics* , Situs Inversus* , Twins* , Viscera*, Humans

المؤلفون: Bergmann C; Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany. cbergmann@ukaachen.de, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H

المصدر: American journal of human genetics [Am J Hum Genet] 2008 Apr; Vol. 82 (4), pp. 959-70. Date of Electronic Publication: 2008 Mar 27.

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: Abnormalities, Multiple/*genetics , Fetal Death/*genetics , Kidney Diseases, Cystic/*genetics , Kinesins/*genetics , Situs Inversus/*genetics, Adolescent ; Animals ; Child ; Female ; Humans ; Infant, Newborn ; Kidney/abnormalities ; Kinesins/metabolism ; Liver/abnormalities ; Male ; Mice ; Mice, Mutant Strains ; Mutation ; Pancreas/abnormalities ; Pedigree ; Syndrome ; Transcription Factors/metabolism ; Wnt Proteins/metabolism ; Xenopus laevis

المؤلفون: McManus C; Department of Psychology, University College London, Gower Street, London WC1E 6BT, United Kingdom.

المصدر: Developmental cell [Dev Cell] 2005 Jun; Vol. 8 (6), pp. 796-7.

نوع المنشور: Comparative Study; Journal Article; Review

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print Cited Medium: Print ISSN: 1534-5807 (Print) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

مواضيع طبية MeSH: Behavior, Animal/*physiology , Body Patterning/*physiology , Central Nervous System/*embryology , Embryo, Nonmammalian/*physiology, Animals ; Embryo, Nonmammalian/cytology ; Functional Laterality/physiology ; Humans ; Situs Inversus/metabolism ; Zebrafish

المؤلفون: Kramer KL; Huntsman Cancer Institute, Center for Children, Department of Oncological Sciences and Department of Pediatrics, University of Utah, 2000 Circle of Hope, Salt Lake City, UT 84112, USA., Yost HJ

المصدر: Developmental cell [Dev Cell] 2002 Jan; Vol. 2 (1), pp. 115-24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print Cited Medium: Print ISSN: 1534-5807 (Print) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

مواضيع طبية MeSH: Proteins*, Digestive System/*embryology , Glycoproteins/*metabolism , Heart/*embryology , Membrane Glycoproteins/*metabolism , Proteoglycans/*metabolism, Activin Receptors, Type I/metabolism ; Amino Acid Sequence ; Animals ; Cell Movement/physiology ; Ectoderm/metabolism ; Gastrula/physiology ; Gene Expression Regulation, Developmental ; Heparitin Sulfate/metabolism ; Membrane Glycoproteins/genetics ; Mesoderm/cytology ; Molecular Sequence Data ; Proteoglycans/genetics ; Signal Transduction/physiology ; Situs Inversus/embryology ; Syndecan-2 ; Transforming Growth Factor beta ; Xenopus ; Xenopus Proteins ; Zebrafish Proteins

المؤلفون: Okada Y; Department of Cell Biology and Anatomy, Graduate School of Medicine, University of Tokyo, Japan., Nonaka S, Tanaka Y, Saijoh Y, Hamada H, Hirokawa N

المصدر: Molecular cell [Mol Cell] 1999 Oct; Vol. 4 (4), pp. 459-68.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print Cited Medium: Print ISSN: 1097-2765 (Print) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus/*genetics, Animals ; Body Patterning ; Cilia/metabolism ; Cilia/ultrastructure ; Dyneins/genetics ; Embryonic and Fetal Development/genetics ; Gene Expression Regulation, Developmental ; Left-Right Determination Factors ; Mice ; Mice, Transgenic ; Microscopy, Fluorescence ; Microscopy, Video ; Microspheres ; Morphogenesis/genetics ; Mutation ; Somites/metabolism ; Transforming Growth Factor beta/genetics