Mahmut S Sagiroglu
Overview
Explore the profile of Mahmut S Sagiroglu including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
136
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0
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Recent Articles
1.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2019 Jan;
21(9):2160-2161.
PMID: 30696996
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der...
2.
Van der Sluijs P, Jansen S, Vergano S, Adachi-Fukuda M, Alanay Y, Alkindy A, et al.
Genet Med
. 2018 Oct;
21(6):1295-1307.
PMID: 30349098
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically...
3.
Inal-Gultekin G, Toptas-Hekimoglu B, Gormez Z, Gelisin O, Durmus H, Erguner B, et al.
Neuromuscul Disord
. 2017 Oct;
27(11):997-1008.
PMID: 28967462
This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients...
4.
Dursun A, Yalnizoglu D, Gerdan O, Yucel-Yilmaz D, Sagiroglu M, Yuksel B, et al.
Clin Dysmorphol
. 2016 Aug;
26(1):1-12.
PMID: 27547915
We present a novel multisystem disease in two siblings with clinical features resembling a lysosomal storage disease. These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells,...
5.
Erguner B, Ustek D, Sagiroglu M
Annu Int Conf IEEE Eng Med Biol Soc
. 2016 Jan;
2015:6453-6.
PMID: 26737770
Next Generation DNA Sequencing technologies offer ultra high sequencing throughput for very low prices. The increase in throughput and diminished costs open up new research areas. Moreover, number of clinicians...
6.
Koparir A, Karatas O, Yuceturk B, Yuksel B, Bayrak A, Gerdan O, et al.
Hum Mol Genet
. 2015 Jul;
24(19):5378-87.
PMID: 26162852
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related...
7.
Tuncer F, Gormez Z, Calik M, Uzun G, Sagiroglu M, Yuceturk B, et al.
Epilepsy Res
. 2015 May;
113:5-10.
PMID: 25986186
A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined...
8.
Dal G, Erguner B, Sagiroglu M, Yuksel B, Onat O, Alkan C, et al.
J Med Genet
. 2014 Apr;
51(7):455-9.
PMID: 24764354
Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10(-8) mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de...