Neveen A Soliman
Neveen A Soliman
Professor of Pediatrics, Cairo University
Dirección de correo verificada de kasralainy.edu.eg
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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ...
Journal of the American Society of Nephrology 26 (6), 1279-1289, 2015
3922015
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ...
The Journal of clinical investigation 121 (5), 2013-2024, 2011
3432011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
3272011
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
HY Gee, P Saisawat, S Ashraf, TW Hurd, V Vega-Warner, H Fang, ...
The Journal of clinical investigation 123 (8), 3243-3253, 2013
1962013
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
CAG Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB ...
Nat Genet. 48 (9), 1071-6, 2016
1872016
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
DY Hwang, GC Dworschak, S Kohl, P Saisawat, A Vivante, AC Hilger, ...
Kidney international 85 (6), 1429-1433, 2014
1792014
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl, M Chaki, SJ Allen, ...
Human genetics 132 (8), 865-884, 2013
1712013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen, J Van Reeuwijk, ...
Nature genetics 45 (8), 951-956, 2013
1582013
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
EA Otto, G Ramaswami, S Janssen, M Chaki, SJ Allen, W Zhou, R Airik, ...
Journal of medical genetics 48 (2), 105-116, 2011
1362011
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation …
J Halbritter, K Diaz, M Chaki, JD Porath, B Tarrier, C Fu, JL Innis, SJ Allen, ...
Journal of medical genetics 49 (12), 756-767, 2012
1172012
Cystinosis: a review
MA Elmonem, KR Veys, NA Soliman, M van Dyck, LP van den Heuvel, ...
Orphanet journal of rare diseases 11 (1), 1-17, 2016
1112016
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529, 2017
962017
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
JK Warejko, W Tan, A Daga, D Schapiro, JA Lawson, S Shril, S Lovric, ...
Clinical Journal of the American Society of Nephrology 13 (1), 53-62, 2018
882018
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
A Daga, AJ Majmundar, DA Braun, HY Gee, JA Lawson, S Shril, ...
Kidney international 93 (1), 204-213, 2018
762018
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome
S Lovric, H Fang, V Vega-Warner, CE Sadowski, HY Gee, J Halbritter, ...
Clinical Journal of the American Society of Nephrology 9 (6), 1109-1116, 2014
752014
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
AA Bizet, A Becker-Heck, R Ryan, K Weber, E Filhol, P Krug, J Halbritter, ...
Nature communications 6 (1), 1-14, 2015
722015
FAT1 mutations cause a glomerulotubular nephropathy
HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ...
Nature communications 7 (1), 1-11, 2016
672016
Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract
AT van der Ven, DM Connaughton, H Ityel, N Mann, M Nakayama, J Chen, ...
Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018
642018
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier, JA Lawson, W Tan, ...
Nature communications 9 (1), 1-14, 2018
602018
Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract
A Vivante, DY Hwang, S Kohl, J Chen, S Shril, J Schulz, A Van Der Ven, ...
Journal of the American Society of Nephrology 28 (1), 69-75, 2017
562017
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Artículos 1–20