Publications by authors named "Ferda Percin"

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Increased Red Blood Cell Count With High Hemoglobin Indicates a Different Diagnosis From Beta-thalassemia Trait, Regardless of Mean Corpuscular Volume: Hereditary Hemochromatosis-A Retrospective Analysis.
Deniz Aslan, Ali Kadir Koç, Ferda Emriye Perçin

J Pediatr Hematol Oncol· November 2025

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Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.
Umut Altunoglu, Birsen Karaman, Yasemin Alanay, Ferda Perçin, Zehra Oya Uyguner

Turk Arch Pediatr· March 2025

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A case of U2AF2 -related developmental disorder: long-term follow-up and expansion of the phenotype.
Muhammed Fatih Mulayim, Mustafa Hakan Demirbas, Ferda E Percin, Ebru Arhan, Gulsum Kayhan

Clin Dysmorphol· October 2024

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Letter to the Editor regarding "New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant" by Kılıç and Koşukçu, "An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant" by Yüksel Ülker et al. and "Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings" by Duzenli et al.
Tarik Duzenli, Abdullah Sezer, Ferda Emriye Percin

Am J Med Genet A· April 2024

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Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder.
Abdullah Sezer, Gulsum Kayhan, Ferda E Percin

Eur J Med Genet· September 2023

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Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.
Tarik Duzenli, Abdullah Sezer, Gulsum Kayhan, Ayse Tana Arslan, Ferda E Percin

Am J Med Genet A· August 2023

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A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.
Abdullah Sezer, Gulsum Kayhan, Tugba Ramasli Gursoy, Tugba Sismanlar Eyuboglu, Ferda E Percin

Am J Med Genet A· January 2023

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Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.
Melda Tas, Mervenur Kurtulus, Elı F Keles Gulnerman, Canan Turkyilmaz, Ferda Percin

Int J Dev Neurosci· August 2022

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, E Ferda Percin

Funct Integr Genomics· June 2022

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A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities.
Abdullah Sezer, Ferda Emriye Perçin, Hasan Huseyin Kazan, Gulsum Kayhan, Mujde Akturk

Am J Med Genet A· June 2022

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Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.
Ahmet Özaslan, Gülsüm Kayhan, Elvan İşeri, Mehmet Ali Ergün, Esra Güney

Mol Biol Rep· November 2021

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Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?
Erkan Yurtcu, Deniz Karçaaltıncaba, Hasan Hüseyin Kazan, Halis Özdemir, Meral Yirmibeş Karaoğuz

Turk J Med Sci· June 2021

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Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.
Ufuk Ergun, Bahar Say, Sezen Guntekin Ergun, Ferda Emriye Percin, Levent Inan

Eur J Med Genet· April 2021

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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Abdullah Sezer, Gülsüm Kayhan, Altuğ Koç, Mehmet A Ergün, Ferda E Perçin

Cytogenet Genome Res· September 2020

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Aetiological Evaluation of Oligodontia in a Three-Generation Family.
Sezen Güntekin Ergün, Burcu Baloş Tuncer, Mehmet Ali Ergün, Guyem Kolbaşı, Metin Orhan

Oral Health Prev Dent· July 2020

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HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Vanja Nagy, Ronja Hollstein, Tsung-Pin Pai, Michel K Herde, Pisanu Buphamalai

Neurol Genet· June 2019

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Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
Esra Tuğ, M Ali Ergün, E Ferda Perçin

Turk J Pediatr· January 2019

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46 XX male syndrome with hypogonadotropic hypogonadism: A case report.
Mehmet M Yalcin, Cigdem Ozkan, Mujde Akturk, Ferda Emriye Percin, Alev Altinova

North Clin Istanb· September 2018

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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome.
Gulsum Kayhan, Mehmet Ali Ergun, Sezen Guntekin Ergun, Serdar Kula, Ferda E Percin

Genet Test Mol Biomarkers· August 2018

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Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing.
Abdullatif Bakır, Meral Yirmibeş Karaoğuz, Ferda Emriye Perçin, Esra Tuğ, Peyami Cinaz

Turk J Med Sci· April 2018

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Polymorphisms in the Growth Differentiation Factor 5 (GDF 5) Gene in Knee Osteoarthritis.
Seda Sabah Ozcan, Murat Korkmaz, Ozlem Balbaloglu, Ferda Percin, Neziha Yilmaz

J Coll Physicians Surg Pak· October 2017

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Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder.
Gul Ozbey, Feryal Cam Celikel, Birgul Elbozan Cumurcu, Derya Kan, Berna Yucel, Ferda Percin

Nord J Psychiatry· April 2017

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, E Ferda Percin

Nat Genet· April 2017

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LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.
Sezen Guntekin Ergun, Guvem Gumus Akay, Mehmet Ali Ergun, E Ferda Perçin

Eur J Med Genet· March 2017

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Investigation of CYP2D6 Gene Polymorphisms in Turkish Population.
Bayram Taskin, Ferda E Percin, Mehmet Ali Ergun

Psychopharmacol Bull· March 2016

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