Zobrazeno 1 - 8 of 8 pro vyhledávání: '"BreAnna Kinghorn"'
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Akademický článek
The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia
Autor: William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intell
Externí odkaz: https://doaj.org/article/05925ae70dfb4d988f4b54da6cd65b90
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3
Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease
Autor: Jonathan Marquez, Lauren N. Carlozzi, Danny E. Miller, Matthew D. Files, BreAnna Kinghorn, Eyal Sagiv
Publikováno v: Translational Science of Rare Diseases. :1-14
BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants. OBJECTIVE: This case series aims to describe genetic testing and postoperative outco
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a39ac7db37279c68d43b822af24c5c1
https://doi.org/10.3233/trd-230059
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4
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype
Autor: BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh
Publikováno v: Annals of the American Thoracic Society. 20:539-547
Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, and progressive airway damage and obstructive lung disease. While the association of ciliary ultrastructure defect/genotype with se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d68c1905d6dec4efdcb1c5618c9514f
https://doi.org/10.1513/annalsats.202206-524oc
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7
Exercise-Induced Bronchoconstriction
Autor: BreAnna Kinghorn
Publikováno v: Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide ISBN: 9781610021432
Pediatric Pulmonology, Asthma, and Sleep Medicine: A Quick Reference Guide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac97e218a064c8497ede2abeaa8c334b
https://doi.org/10.1542/9781610021432-part03-ch41
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8
A strategy for constructing aneuploid yeast strains by transient nondisjunction of a target chromosome
Autor: Julie R Kudrna, Daniel Pauw, Anders T Peck, Kirstie E Keller, Kirk R. Anders, Isaac J T Strong, Christopher E Shellooe, BreAnna Kinghorn, Elizabeth M Miller
Publikováno v: BMC Genetics
BMC Genetics, Vol 10, Iss 1, p 36 (2009)
Background Most methods for constructing aneuploid yeast strains that have gained a specific chromosome rely on spontaneous failures of cell division fidelity. In Saccharomyces cerevisiae, extra chromosomes can be obtained when errors in meiosis or m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31dc13001e95c3332b7511f852366614
https://pubmed.ncbi.nlm.nih.gov/19594932
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