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Author

Zehra Oya Uyguner

Observed names: O Uyguner, O. Uyguner, O., Uyguner, Oya Uyguner, Oya Zehra Uyguner, UYGUNER, ZEHRA OYA, Uyguner Z.O., Uyguner Zehra Oya, Uyguner, Z Oya, Uyguner, Z.O., Uyguner, Zehra Oya, Z. O. Uyguner, Z. Oya Uyguner, Z.O. Uyguner, Z.O., Uyguner, ZO Uyguner, Zehra O Uyguner, Zehra O. Uyguner, Zehra Uyguner, ZehraOya Uyguner
Institution: Istanbul University
Observed institutions: Koç University, University of Cologne, Istanbul University-Cerrahpaşa, The Ohio State University, Istanbul University, Marmara University
ORCID: 0000-0002-2035-4338
Observed ORCID: 0000-0002-2035-4338
OpenAlex ID: A5038404179
Mutations in different components of FGF signaling in LADD syndrome
2006 · Edyta Rohmann, Han G Brunner, et al. · Nature Genetics · 211
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
2018 · Emmanuelle Szenker-Ravi, Umut Altunoglu, et al. · Nature · 191
ALX4 dysfunction disrupts craniofacial and epidermal development
2009 · Hulya Kayserili, Elif Uz, et al. · Human Molecular Genetics · 133
Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss
2003 · O Uyguner, M Emiroglu, et al. · Clinical Genetics · 93
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
2003 · Bernd Wollnik, Turgut Tukel, et al. · American Journal of Medical Genetics Part A · 84
Mutations in thelipoma HMGIC fusion partner-like 5 (LHFPL5)gene cause autosomal recessive nonsyndromic hearing loss
2006 · Ersan Kalay, Yun Li, et al. · Human Mutation · 75
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
2002 · O Uyguner, T Tukel, et al. · Clinical Genetics · 75
Mutations in CDK 5 RAP 2 cause Seckel syndrome
2015 · Gökhan Yigit, Karen E. Brown, et al. · Molecular Genetics & Genomic Medicine · 67
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
2017 · N. Dinckan, R. Du, et al. · Journal of Dental Research · 64
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Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?
2013 · V. Ulker, H. Gurkan, et al. · European Journal of Obstetrics & Gynecology and Reproductive Biology · 64
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
2008 · N Hilgert, F Alasti, et al. · Clinical Genetics · 63
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
2007 · Ersan Kalay, Abdullah Uzumcu, et al. · American Journal of Medical Genetics Part A · 50
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
2009 · Firdevs Baş, Hülya Kayserili, et al. · Journal of Clinical Research in Pediatric Endocrinology · 47
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A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency
2003 · T. Tukel, O. Uyguner, et al. · The Journal of Clinical Endocrinology & Metabolism · 43
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
2018 · Annemieke Aartsma-Rus, Madhuri Hegde, et al. · The Journal of Pediatrics · 40
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Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
2016 · Firdevs Dinçsoy Bir, Nuriye Dinçkan, et al. · European Journal of Medical Genetics · 40
The Turkish Hereditary Angioedema Pilot Study (TURHAPS): The First Turkish Series of Hereditary Angioedema
2011 · Belgin Kesim, Zehra Oya Uyguner, et al. · International Archives of Allergy and Immunology · 40
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
2018 · Aslı Derya Kardelen, Güven Toksoy, et al. · Journal of Clinical Research in Pediatric Endocrinology · 37
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Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
2011 · Hülya Kayserili, U. Altunoglu, et al. · American Journal of Medical Genetics Part A · 34
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
2005 · T Tukel, A Uzumcu, et al. · Journal of Medical Genetics · 34
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Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene
2018 · Firdevs Baş, Güven Toksoy, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 33
A mutation in the signal sequence ofLRP5in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats
2009 · Boi-Dinh Chung, Hülya Kayserili, et al. · Human Mutation · 32
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor
2002 · U. Utku, Y. Celik, et al. · European Journal of Neurology · 32
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
2021 · Beyhan Tüysüz, Leyla Elkanova, et al. · Bone · 31
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
2018 · Birsen Karaman, Hülya Kayserili, et al. · Molecular Cytogenetics · 31
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Works count: 214
Citation count: 2,475
H-index: 27
I10-index: 63
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