Folgen
Mahmoud Fassad
Mahmoud Fassad
Bestätigte E-Mail-Adresse bei alexu.edu.eg
Titel
Zitiert von
Zitiert von
Jahr
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 14279, 2017
1432017
Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus
MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P Le Borgne, ...
The American Journal of Human Genetics 103 (6), 984-994, 2018
1042018
High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ...
Thorax 73 (2), 157-166, 2018
702018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
S Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ...
Thorax 74 (2), 203-205, 2019
602019
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
A Shoemark, B Rubbo, M Legendre, MR Fassad, EG Haarman, S Best, ...
European Respiratory Journal 58 (2), 2021
572021
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
MR Fassad, MP Patel, A Shoemark, T Cullup, J Hayward, M Dixon, ...
Journal of Medical Genetics 57 (5), 322-330, 2020
572020
C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia
MR Fassad, A Shoemark, P Le Borgne, F Koll, M Patel, M Dixon, ...
The American Journal of Human Genetics 102 (5), 956-972, 2018
572018
Expanding the phenome and variome of skeletal dysplasia
S Maddirevula, S Alsahli, L Alhabeeb, N Patel, F Alzahrani, ...
Genetics in Medicine 20 (12), 1609-1616, 2018
562018
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
EA Robson, L Dixon, L Causon, W Dawes, M Benenati, M Fassad, ...
Neurology: Genetics 6 (4), e482, 2020
272020
Primary ciliary dyskinesia due to microtubular defects is associated with worse lung clearance index
S Irving, M Dixon, MR Fassad, E Frost, J Hayward, K Kilpin, S Ollosson, ...
Lung 196, 231-238, 2018
272018
Axonemal structures reveal mechanoregulatory and disease mechanisms
T Walton, M Gui, S Velkova, MR Fassad, RA Hirst, E Haarman, ...
Nature 618 (7965), 625-633, 2023
252023
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia
MR Fassad, WI Shoman, H Morsy, MP Patel, N Radwan, L Jenkins, ...
Clinical Genetics 97 (3), 509-515, 2020
222020
Novel FAM126A mutations in hypomyelination and congenital cataract disease
M Traverso, S Assereto, E Gazzerro, S Savasta, EM Abdalla, A Rossi, ...
Biochemical and biophysical research communications 439 (3), 369-372, 2013
172013
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
DDH Lee, D Cardinale, E Nigro, CR Butler, A Rutman, MR Fassad, ...
European Respiratory Journal 58 (4), 2021
132021
Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss
MR Fassad, LM Desouky, S Asal, EM Abdalla
International journal of molecular epidemiology and genetics 5 (4), 200, 2014
122014
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School
H Farley, B Rubbo, Z Bukowy-Bieryllo, M Fassad, M Goutaki, K Harman, ...
BMC proceedings 12, 1-15, 2018
92018
CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma
MR Fassad, AK Amin, HA Morsy, NM Issa, NH Bayoumi, SA El Shafei, ...
Egyptian Journal of Medical Human Genetics 18 (3), 219-224, 2017
82017
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
D Erdinc, A Rodríguez‐Luis, MR Fassad, S Mackenzie, CM Watson, ...
EMBO Molecular Medicine 15 (5), e16775, 2023
72023
UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic …, 2017
62017
TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum
S Mechaussier, DO Dodd, PL Yeyati, F McPhie, T Attard, A Shoemark, ...
medRxiv, 2022.10. 19.22280748, 2022
52022
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20