Zobrazeno 1 - 4
of 4
pro vyhledávání: '"pulmonary situs inversus"'
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Autor:
Alexander Ing, Erica Toledo, Theresa A. Laguna, Joel Charrow, Victoria R. Sanders, Kristina Firestein, Mary Kate McIntyre, Sabah Kadri, Dawn A. Kirschmann, Alissa Wlodaver, Joanne Salazar, Kai Lee Yap, Christopher McCabe
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Transcriptional analysis can be utilized to reconcile variants of uncertain significance, particularly those predicted to impact splicing. Laboratory analysis of the predicted mRNA transcript may allow inference of the in vivo impact of the variant a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745b8aac22eb901913f9dc5373f9274e
http://europepmc.org/articles/PMC7903884
http://europepmc.org/articles/PMC7903884
Autor:
Bryan F. Meyers, Elbert P. Trulock, Ramsey R. Hachem, Benjamin D. Kozower, Chad A. Witt, G. Alexander Patterson, Roger D. Yusen, Steven L. Brody, Patrick R. Aguilar, Andrew J. Bierhals, Varun Puri, Derek E. Byers, Jason M. Gauthier, Ruben G. Nava, Daniel Kreisel, Tsuyoshi Takahashi
Publikováno v:
The Annals of Thoracic Surgery. 107:e337-e339
Kartagener's syndrome is a rare genetic disorder of ciliated epithelial cells associated with recurrent respiratory tract infections, bronchiectasis, and situs inversus. In some patients, the accumulation of airway secretions and recurrent infections
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9afac81c2e23a6ea886ac9dbb79e7a63
https://doi.org/10.1016/j.athoracsur.2018.08.095
https://doi.org/10.1016/j.athoracsur.2018.08.095
Autor:
Dena M. Selby, Damon Morris
Publikováno v:
Prenatal Diagnosis. 19:288-289
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9c99683c62e1b11bb9429c8bbcefff1
https://doi.org/10.1002/(sici)1097-0223(199903)19:3<288::aid-pd529>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199903)19:3<288::aid-pd529>3.0.co
Autor:
Ing A; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Wlodaver A; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Kirschmann D; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Toledo E; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., McCabe C; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Kadri S; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA., McIntyre MK; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Salazar J; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Firestein K; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Charrow J; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Sanders V; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA., Laguna T; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA., Yap KL; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Feb 19; Vol. 7 (1). Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2021).