Detalhe da pesquisa
1.
Axonemal structures reveal mechanoregulatory and disease mechanisms.
Nature
; 618(7965): 625-633, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37258679
2.
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
3.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
4.
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Am J Hum Genet
; 102(5): 956-972, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727692
5.
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
6.
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Eur Respir J
; 58(4)2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33795320
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
13.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet J Rare Dis
; 19(1): 15, 2024 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221620
14.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662826
15.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
16.
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
17.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Mol Med
; 15(5): e16775, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013609
18.
CFAP300 mutation causing primary ciliary dyskinesia in Finland.
Front Genet
; 13: 985227, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246608
19.
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
20.
Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss.
Int J Mol Epidemiol Genet
; 5(4): 200-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755848