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Sibel Uğur İşeri
Sibel Uğur İşeri
Verified email at istanbul.edu.tr
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Cited by
Year
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
A Corut, A Senyigit, SA Ugur, S Altin, U Ozcelik, H Calisir, Z Yildirim, ...
The American Journal of Human Genetics 79 (4), 650-656, 2006
3162006
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32
Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ...
Human molecular genetics 21 (24), 5359-5372, 2012
1532012
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation
SA Ugur, A Tolun
Human Molecular Genetics 17 (17), 2644-2653, 2008
992008
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies
SU Iseri, RJ Osborne, M Farrall, AW Wyatt, G Mirza, G Nürnberg, C Kluck, ...
Human mutation 30 (10), 1378-1386, 2009
972009
Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy
RS Mĝller, YG Weber, LL Klitten, H Trucks, H Muhle, WS Kunz, ...
Epilepsia 54 (2), 256-264, 2013
742013
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24. 3–q25. 1
U Dursun, C Koroglu, E Kocasoy Orhan, SA Ugur, A Tolun
Neurogenetics 10, 325-331, 2009
682009
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
Y Yıldırım, E Kocasoy Orhan, SA Ugur Iseri, P Serdaroglu-Oflazer, B Kara, ...
Human molecular genetics 20 (10), 1886-1892, 2011
662011
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
MO Kılınc, VN Ninis, SA Uǧur, B Tüysüz, M Seven, S Balcı, J Goodship, ...
European journal of human genetics 11 (11), 851-857, 2003
642003
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31. 3 for genetic generalized epilepsies
Epicure Consortium, C Leu, CGF de Kovel, F Zara, P Striano, M Pezzella, ...
Epilepsia 53 (2), 308-318, 2012
472012
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant …
SU Iseri, AW Wyatt, G Nürnberg, C Kluck, P Nürnberg, GE Holder, E Blair, ...
Human genetics 128, 51-60, 2010
392010
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies
P Bakrania, SA Ugur Iseri, AW Wyatt, DJ Bunyan, WWK Lam, A Salt, ...
American Journal of Medical Genetics Part A 152 (5), 1310-1313, 2010
362010
Third-line treatment with second-generation tyrosine kinase inhibitors (dasatinib or nilotinib) in patients with chronic myeloid leukemia after two prior TKIs: real-life data …
S Ongoren, AE Eskazan, V Suzan, S Savci, I Erdogan Ozunal, S Berk, ...
Hematology 23 (4), 212-220, 2018
352018
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22. 2–p21. 32
S Önengüt, SA Uǧur, H Karasoy, N Yüceyar, A Tolun
Neuromuscular Disorders 14 (1), 4-9, 2004
342004
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13. 3
N Duru, SAU Iseri, N Selç, A Tolun
Journal of neurogenetics 24 (4), 207-215, 2010
272010
A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis
SA Ugur Iseri, YK Durlu, A Tolun
European journal of human genetics 18 (10), 1121-1126, 2010
232010
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract
SA Ugur, A Tolun
European journal of human genetics 16 (2), 261-264, 2008
212008
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
NH Akcakaya, SU Iseri, B Bilir, E Battaloglu, P Tekturk, M Gultekin, G Akar, ...
Clinical Neurology and Neurosurgery 154, 34-42, 2017
192017
Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data
B Bakir-Gungor, B Baykan, SU İseri, FN Tuncer, OU Sezerman
Epilepsy research 105 (1-2), 92-102, 2013
192013
Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family
FM Sonmez, F Celep, SA Ugur
Journal of child neurology 21 (4), 333-337, 2006
182006
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability
SA Ugur Iseri, E Yucesan, FN Tuncer, M Calik, Y Kesim, G Altiokka Uzun, ...
Journal of Human Genetics 64 (5), 421-426, 2019
152019
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