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1.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Hum Mol Genet
; 32(21): 3090-3104, 2023 10 17.
Article
in English
| MEDLINE | ID: mdl-37555648
2.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Am J Hum Genet
; 103(6): 984-994, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30471717
3.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Eur Respir J
; 58(2)2021 08.
Article
in English
| MEDLINE | ID: mdl-33479112
4.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
J Med Genet
; 57(5): 322-330, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31879361
5.
PCD Detect: enhancing ciliary features through image averaging and classification.
Am J Physiol Lung Cell Mol Physiol
; 319(6): L1048-L1060, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-32996775
6.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29228333
7.
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clin Genet
; 97(3): 509-515, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31650533
8.
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
; 74(2): 203-205, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30166424
9.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax
; 73(2): 157-166, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28790179
10.
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Eur Respir J
; 51(2)2018 02.
Article
in English
| MEDLINE | ID: mdl-29467202
11.
A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry.
Kidney Int
; 85(4): 933-7, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24067434
12.
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.
Eur J Hum Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605126
13.
A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
J Am Soc Nephrol
; 23(7): 1155-60, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22626820
14.
Prion protein conversion at two distinct cellular sites precedes fibrillisation.
Nat Commun
; 14(1): 8354, 2023 Dec 15.
Article
in English
| MEDLINE | ID: mdl-38102121
15.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
ERJ Open Res
; 9(2)2023 Mar.
Article
in English
| MEDLINE | ID: mdl-37077557
16.
Relationship between complotype and reported severity of systemic allergic reactions to peanut.
J Allergy Clin Immunol
; 129(5): 1398-1401.e3, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22325069
17.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nat Commun
; 8: 14279, 2017 02 08.
Article
in English
| MEDLINE | ID: mdl-28176794
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