Horia C Stanescu
Overview
Explore the profile of Horia C Stanescu including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
31
Citations
1615
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Gupta S, Kottgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu H, et al.
Nephrol Dial Transplant
. 2017 Nov;
33(9):1493-1502.
PMID: 29126273
An HLA-DR3 association with membranous nephropathy (MN) was described in 1979 and additional evidence for a genetic component to MN was suggested in 1984 in reports of familial MN. In...
12.
Vivante A, Mann N, Yonath H, Weiss A, Getwan M, Kaminski M, et al.
J Am Soc Nephrol
. 2017 Apr;
28(8):2364-2376.
PMID: 28381549
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the...
13.
Le Quesne Stabej P, James C, Ocaka L, Tekman M, Grunewald S, Clement E, et al.
Orphanet J Rare Dis
. 2017 Feb;
12(1):24.
PMID: 28173822
Background: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures,...
14.
Bacchelli C, Moretti F, Carmo M, Adams S, Stanescu H, Pearce K, et al.
J Allergy Clin Immunol
. 2016 Aug;
139(2):634-642.e5.
PMID: 27522155
Background: Signaling through the T-cell receptor (TCR) is critical for T-cell development and function. Linker for activation of T cells (LAT) is a transmembrane adaptor signaling molecule that is part...
15.
Sekula P, Li Y, Stanescu H, Wuttke M, Ekici A, Bockenhauer D, et al.
Nephrol Dial Transplant
. 2016 Jun;
32(2):325-332.
PMID: 27333618
Background: Membranous nephropathy (MN) is a common cause of nephrotic syndrome in adults. Previous genome-wide association studies (GWAS) of 300 000 genotyped variants identified MN-associated loci at HLA-DQA1 and PLA2R1....
16.
Rowczenio D, Iancu D, Trojer H, Gilbertson J, Gillmore J, Wechalekar A, et al.
Rheumatology (Oxford)
. 2016 May;
56(2):209-213.
PMID: 27150194
Objective: This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p.M694del mutation and to use haplotype reconstruction to...
17.
Williams H, Hurst J, Ocaka L, James C, Pao C, Chanudet E, et al.
Eur J Hum Genet
. 2015 Jun;
24(2):298-301.
PMID: 26059842
The success of whole-exome sequencing to identify mutations causing single-gene disorders has been well documented. In contrast whole-exome sequencing has so far had limited success in the identification of variants...
18.
Le Quesne Stabej P, Williams H, James C, Tekman M, Stanescu H, Kleta R, et al.
Eur J Hum Genet
. 2015 Jun;
24(1):135-8.
PMID: 26059840
Primary ovarian insufficiency (POI) is a distressing cause of infertility in young women. POI is heterogeneous with only a few causative genes having been discovered so far. Our objective was...
19.
Mencacci N, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann M, Ryten M, et al.
Am J Hum Genet
. 2015 May;
96(6):938-47.
PMID: 25983243
Myoclonus-dystonia (M-D) is a rare movement disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. SGCE mutations represent a major cause for familial M-D being responsible for 30%-50%...
20.
Klootwijk E, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette S, et al.
N Engl J Med
. 2014 Jan;
370(2):129-38.
PMID: 24401050
Background: In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause...