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.
Ultrastructural cilia defects in multi-ciliated uterine glandular epithelial cells from women with reproductive failure.
Reproduction
; 167(1)2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37999981
3.
Convergently evolved placental villi show multiscale structural adaptations to differential placental invasiveness.
Biol Lett
; 20(3): 20240016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531417
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.
Occupational Localized Cutaneous Argyria With Pseudo-Ochronosis in a Jeweler.
Am J Dermatopathol
; 43(11): 822-826, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606379
6.
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).
Eur Respir J
; 55(4)2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060067
7.
Serial block-face scanning electron microscopy reveals novel intercellular connections in human term placental microvasculature.
J Anat
; 237(2): 241-249, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242928
8.
3D-Reconstructed Retinal Pigment Epithelial Cells Provide Insights into the Anatomy of the Outer Retina.
Int J Mol Sci
; 21(21)2020 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33182490
9.
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
10.
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
11.
Serial block-face scanning electron microscopy of erythrocytes protruding through the human placental syncytiotrophoblast.
J Anat
; 231(4): 634-637, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714092
12.
Accuracy of diagnostic testing in primary ciliary dyskinesia.
Eur Respir J
; 47(3): 837-48, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647444
13.
Diagnostic Methods in Primary Ciliary Dyskinesia.
Paediatr Respir Rev
; 18: 8-17, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362507
14.
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
BMC Med Genet
; 16: 45, 2015 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123568
15.
A Novel Sandwich Method for Serial Block Face SEM Imaging of Airway Multiciliated Epithelium.
Methods Mol Biol
; 2725: 121-129, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37856021
16.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Hum Mutat
; 34(3): 462-72, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255504
17.
Subconjunctival Ocular Argyrosis following Treatment with Ruthenium 106 Brachytherapy for Choroidal Melanoma.
Ocul Oncol Pathol
; 9(3-4): 101-106, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-38046271
18.
Correlative multiscale microCT-SBF-SEM imaging of resin-embedded tissue.
Methods Cell Biol
; 177: 241-267, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451769
19.
A high-throughput 3D X-ray histology facility for biomedical research and preclinical applications.
Wellcome Open Res
; 8: 366, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37928208
20.
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