Results 201 to 210 of about 16,014 (252)

Identifying Novel Genetic Causes of Primary Ciliary Dyskinesia

, 2016
Emily Yu
openalex   +1 more source

Bone Health in Young Individuals with Primary Ciliary Dyskinesia: Insights from a Comparison with Cystic Fibrosis and Healthy Controls.

Horm Res Paediatr
Gaupmann R, Schmidthaler K, Korajac A, Cobb K, Gruber S, Raimann A, Kent K, Burghardt AJ, Long J, Leonard M, Szépfalusi Z, Patsch JM, Dehlink E.   +12 more
europepmc   +1 more source

Exome sequencing reanalysis identifies a novel likely pathogenic <i>CFAP54</i> variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia. [PDF]

Front Med (Lausanne)
Li Y, Zhou W, Lu W, Chen Q, Wang Y, Li X, Xu KF, Zhang X, Tian X, Liu Y.   +9 more
europepmc   +1 more source

Assessing Olfactory Acuity in Primary Ciliary Dyskinesia with the <i>RSPH4A</i> Founder Mutation. [PDF]

J Clin Med
De Jesús MA, De Jesús-Rojas W.
europepmc   +1 more source

A Case Report on Kartagener Syndrome or Primary Ciliary Dyskinesia – A Rare Genetic Disorder of Ciliary Motility

Tasawar Hayat, Mohd Mushfiq, Jamal Azmat
openalex   +1 more source

Inhaled <i>DNAI1</i> mRNA therapy for treatment of primary ciliary dyskinesia. [PDF]

Proc Natl Acad Sci U S A
Hennig M, Bhattacharjee RB, Agarwal I, Alfaifi A, Casillas JE, Chavez S, Ishimaru D, Liston D, Mohapatra S, Molla T, Pathare S, Sidhu MS, Wang P, Wang Z, Lombana TN, Kharitonov VG, Couch JA, Lockhart DJ, Wustman BA.   +18 more
europepmc   +1 more source

Primary Ciliary Dyskinesia in a 10-Year-Old Girl: A Case Report of Recurrent Respiratory Infections and Bronchiectasis

Craig Joseph
openalex   +1 more source

The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia. [PDF]

Pediatr Pulmonol
Barber AT, Davis SD, Ferkol TW, Shapiro AJ, Atkinson J, Sagel SD, Dell SD, Olivier K, Milla C, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW, Genetic Disorders of Mucociliary Clearance Consortium (GDMCC).   +17 more
europepmc   +1 more source

Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature. [PDF]

Eur Respir Rev
Matthaiou AM, Demetropoulou A, Kouis P, Douros K, Yiallouros P, Anagnostopoulou P.   +5 more
europepmc   +1 more source

Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect. [PDF]

Front Mol Biosci
de Ceuninck van Capelle C, Luo L, Leitner A, Tschanz SA, Latzin P, Ott S, Herren T, Müller L, Ishikawa T.   +8 more
europepmc   +1 more source