Results 151 to 160 of about 9,533 (204)

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia. [PDF]

Int J Mol Sci
Kondratyeva EI, Avdeev SN, Kyian TA, Ryzhkova OP, Melyanovskaya YL, Zabnenkova VV, Bulakh MV, Merzhoeva ZM, Bukhonin AV, Trushenko NV, Lavginova BB, Zhukova DO, Kutsev SI.   +12 more
europepmc   +1 more source

A Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia [PDF]

Turk J Haematol
Özay M, Asfuroğlu P, Baş H, Demir B, Ünal E.   +4 more
europepmc   +1 more source

Incidence and predictors of self-reported pulmonary exacerbations in primary ciliary dyskinesia: an international prospective cohort study. [PDF]

ERJ Open Res
Schreck LD, Goutaki M, Pedersen ESL, Copeland F, López Fernández T, Living with PCD patient advisory group, Lucas JS, Kuehni CE.   +7 more
europepmc   +1 more source

Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia. [PDF]

Cell Discov
Huo C, Luo T, Yang S, Jiang Y, Guo M, Yang F, Xu Z, Xia J, Wu L, Xu W, Gui M, Zhou T, Xie S.   +12 more
europepmc   +1 more source

New Treatments Are Urgently Needed for Patients With All Primary Ciliary Dyskinesia Genotypes. [PDF]

Pediatr Pulmonol
Gaston B, Horani A, Davis S, Ferkol T, Kinghorn B, Rosenfeld M, Shapiro A, Machogu E, O'Connor M, Holme H, Manion M.   +10 more
europepmc   +1 more source

Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder. [PDF]

Appl Clin Genet
Górecki M, Jaszczuk I, Lejman M.
europepmc   +1 more source

Noncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle. [PDF]

Am J Respir Crit Care Med
Shteinberg M, Shapiro AJ.
europepmc   +1 more source

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms. [PDF]

Clin Case Rep
Khalil I, Abrar S, Ahmed ST, Hossain MI.
europepmc   +1 more source

Taste and Smell Disorders in Children and Young Adults With Cystic Fibrosis and Primary Ciliary Dyskinesia-A Prospective Comparative Study. [PDF]

Pediatr Pulmonol
Beermann LC, Demski LS, Eitner L, Dillenhöfer S, Schlegtendal A, Mallon C, Brinkmann F, Maier C, Lücke T, Hoffmann AT.   +9 more
europepmc   +1 more source

Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia. [PDF]

Orphanet J Rare Dis
Burns G, Kauffman C, Manion M, Pai RA, Milla C, O'Connor MG, Shapiro AJ, Bjornson-Pennell H.   +7 more
europepmc   +1 more source