Detalhe da pesquisa
1.
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
J Med Genet
; 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408845
2.
High risk of lung cancer in surfactant-related gene variant carriers.
Eur Respir J
; 63(5)2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575158
3.
Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
Respirology
; 29(4): 312-323, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38345107
4.
Motile cilia and airway disease.
Semin Cell Dev Biol
; 110: 19-33, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279404
5.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31978331
6.
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Reprod Biomed Online
; 47(5): 103328, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742467
7.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178125
8.
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
Am J Hum Genet
; 104(2): 229-245, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665704
9.
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
J Hum Genet
; 67(7): 381-386, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35046476
10.
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Rheumatology (Oxford)
; 62(1): 473-479, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35640127
11.
Systemic inflammatory syndrome in children with FARSA deficiency.
Clin Genet
; 101(5-6): 552-558, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132614
12.
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.
Respiration
; 101(6): 531-543, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078193
13.
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
14.
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
15.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
J Med Genet
; 57(4): 237-244, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772028
16.
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
J Allergy Clin Immunol
; 145(4): 1254-1261, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816408
17.
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Hum Mutat
; 41(1): 115-121, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469207
18.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Hum Mol Genet
; 27(2): 266-282, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121203
19.
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.
Thorax
; 75(1): 92-95, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666386
20.
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Eur Respir J
; 56(6)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855221