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Eda Ütine

Observed names: E. Utine, Eda UTİNE, Eda Utine, Ütine, Eda
OpenAlex ID: A5113626130
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
2010 · Andrew R Cullinane, Anna Straatman-Iwanowska, et al. · Nature Genetics · 185
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
2016 · Katrin Koehler, Miroslav P. Milev, et al. · Journal of Medical Genetics · 60
A multidisciplinary approach to the management of individuals with fragile X syndrome
2007 · Y. Alanay, F. Ünal, et al. · Journal of Intellectual Disability Research · 45
Is Dandy-Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations
2005 · Yasemin Alanay, Dilek Aktaş, et al. · American Journal of Medical Genetics Part A · 39
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
2013 · Yasemin Alanay, Bekir Ergüner, et al. · American Journal of Medical Genetics Part A · 35
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis
2013 · Sule Unal, Yasemin Alanay, et al. · Pediatric Blood & Cancer · 27
TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis
2010 · Nural Kiper, Filiz Gerçeker, et al. · Parasitology International · 17
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
2012 · Esra Kılıç, Eda Utine, et al. · European Journal of Pediatrics · 16
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis : A rare disorder with neurologic regression and skeletal features
2021 · Erdem Kındış, Pelin Özlem Simsek‐Kiper, et al. · American Journal of Medical Genetics Part A · 14
Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report
2022 · Ezgi Aysu Şahin, Ekim Zihni Taşkıran, et al. · Journal of Medical Case Reports · 13
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A rare cause of syndromic short stature: 3M syndrome in three families
2020 · Esra Isik, Duygu Arican, et al. · American Journal of Medical Genetics Part A · 13
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene
2012 · Esra Kılıç, Yasemin Alanay, et al. · The Turkish Journal of Pediatrics · 12
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Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature
2021 · Akçahan Akalın, Ekim Z. Taskiran, et al. · American Journal of Medical Genetics Part A · 10
Cerebro-facio-thoracic dysplasia: expanding the phenotype
2007 · Deirdre Cilliers, Yasemin Alanay, et al. · Clinical Dysmorphology · 10
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
2022 · Merve Güvenoğlu, Pelin Özlem Şimşek-Kiper, et al. · Pediatric Gastroenterology Hepatology & Nutrition · 9
A Turkish BCS1L mutation causes GRACILE-like disorder
2016 · Esra Serdaroğlu, Şahin Takcı, et al. · The Turkish Journal of Pediatrics · 9
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Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features
2016 · Erdal Sag, Rahsan Gocmen, et al. · PEDIATRICS · 9
Impact of mannose‐binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children
2020 · Deniz Dogru, Sanem E. Polat, et al. · Pediatric Pulmonology · 8
A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma
2013 · Berçin Tarlan, Hayyam Kiratli, et al. · Ophthalmic Genetics · 8
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
2009 · Dilek Aktas, Anja Weise, et al. · Molecular Cytogenetics · 6
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Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model
2024 · Beren Karaosmanoglu, Gozde Imren, et al. · Experimental Eye Research · 5
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis
2020 · Neslihan Akdogan, Erdem Kindis, et al. · Journal of Clinical Immunology · 5
AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis
2024 · Beren Karaosmanoglu, Gozde Imren, et al. · Pathology - Research and Practice · 2
A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features
2024 · Akçahan Akalin, Karl-Heinz Grzeschik, et al. · Molecular Syndromology · 2
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Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
2023 · Akçahan Akalın, Cansu Özşin, et al. · European Journal of Medical Genetics · 2
Works count: 42
Citation count: 565
H-index: 12
I10-index: 14
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