Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30471717
3.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Eur Respir J;
58(2)2021 08.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38605126
13.
A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
J Am Soc Nephrol;
23(7): 1155-60, 2012 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22626820
14.
Prion protein conversion at two distinct cellular sites precedes fibrillisation.
Nat Commun;
14(1): 8354, 2023 Dec 15.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28176794