Search Results - "Atık, Tahir"

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss by Atik, Tahir, Onay, Huseyin, Aykut, Ayca, Bademci, Guney, Kirazli, Tayfun, Tekin, Mustafa, Ozkinay, Ferda

“…Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study, we investigated the genetic…”
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Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application by Atik, Tahir, Avci Durmusalioglu, Enise, Isik, Esra, Kose, Melis, Kanmaz, Seda, Aykut, Ayca, Durmaz, Asude, Ozkinay, Ferda, Cogulu, Ozgur

“…Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in…”
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Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics by Aykut, Ayça, Özen, Samim, Gökşen, Damla, Ata, Aysun, Onay, Hüseyin, Atik, Tahir, Darcan, Şükran, Özkinay, Ferda

“…Melanocortin 4 receptor gene plays an important role in food intake, energy balance, and weight control. The autosomal dominantly inherited MC4R variants cause…”
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The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies by Isik, Esra, Yilmaz, Sanem, Atik, Tahir, Aktan, Gul, Onay, Huseyin, Gokben, Sarenur, Ozkinay, Ferda

“…Aim Developmental and epileptic encephalopathies (DEEs) are a group of devastating disorders caused by epileptic activity, resulting in deterioration in…”
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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey by Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

“…Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to…”
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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism by Durmaz, Asude, Aykut, Ayça, Atik, Tahir, Özen, Samim, Ayyıldız Emecen, Durdugül, Ata, Aysun, Işık, Esra, Gökşen, Damla, Çoğulu, Özgür, Özkınay, Ferda

“…Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system…”
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Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder by Ozbaran, Nazli Burcu, Ozyasar, Senay Celenay, Dogan, Nurhak, Kafali, Helin Yilmaz, Isik, Esra, Satar, Aysegul, Kose, Sezen, Atik, Tahir, Cogulu, Ozgur

“…Research on areas such as social cognition, autistic traits, and minor physical anomalies in comorbid Specific Learning Disorder (SLD) and…”
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Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene by Özen, Samim, Atik, Tahir, Korkmaz, Özlem, Onay, Hüseyin, Gökşen, Damla, Özkınay, Ferda, Çoğulu, Özgür, Darcan, Şükran

“…Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The gene encodes the aromatase enzyme which catalyses the conversion of androgens…”
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A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia by Işık, Esra, Onay, Hüseyin, Atik, Tahir, Solmaz, Aslı Ece, Özen, Samim, Çoğulu, Özgür, Darcan, Şükran, Özkınay, Ferda

“…Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from gene mutations. NFNS is characterized by phenotypic features of both…”
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Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings by Isik, Esra, Akgun, Bilcag, Atik, Tahir, Ozkinay, Ferda, Qogulu, Ozgur

“…Aim: Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability. In this study, 6 cases with structural…”
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A Novel Molecular Indicator for Inhibitor Development in Haemophilia A by Isik, Esra, Mehdiyeva, Humay, Akgun, Bilcag, Kose, Timur, Kavakli, Kaan, Ozkinay, Ferda, Atik, Tahir

“…Aim: Previous studies have reported inhibitor development (ID) risk in those patients who have hemophilia A (HA) with missense mutations to be 3-10%. We…”
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Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations by Atik, Tahir, Işık, Esra, Onay, Hüseyin, Akgün, Bilçağ, Shamsali, Moharram, Kavaklı, Kaan, Evim, Melike, Tüysüz, Gülen, Özbek, Namık Yaşar, Şahin, Fahri, Salcıoğlu, Zafer, Albayrak, Canan, Oymak, Yeşim, Ünal, Ekrem, Belen, Fatma Burcu, Yılmaz Keskin, Ebru, Balkan, Can, Baytan, Birol, Küpesiz, Alphan, Culha, Vildan, Tahtakesen Güçer, Tuba Nur, Güneş, Adalet Meral, Özkınay, Ferda

“…Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the gene. The aim of this study is to determine the…”
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Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy by Altay, Canan, Seçil, Mustafa, Demir, Tevfik, Atik, Tahir, Akıncı, Gülçin, Özdemir Kutbay, Nilüfer, Keskin Temeloğlu, Ela, Yıldırım Şimşir, Ilgın, Özışık, Seçil, Demir, Leyla, Eren, Erdal, Tuna, Emine Burçin, Aytaç, Hasibe, Onay, Hüseyin, Akıncı, Barış

“…We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. A total of 32…”
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SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey by Kose, Melis, Canda, Ebru, Kagnici, Mehtap, Aykut, Ayça, Adebali, Ogün, Durmaz, Asude, Bircan, Aylin, Diniz, Gulden, Eraslan, Cenk, Kose, Engin, Ünalp, Aycan, Yılmaz, Ünsal, Ozyilmaz, Berk, Özdemir, Taha Reşid, Atik, Tahir, Uçar, Sema Kalkan, McFarland, Robert, Taylor, Robert W., Brown, Garry K., Çoker, Mahmut, Özkınay, Ferda

“…Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh…”
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Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis by Şahin Atik, Sevinç, Solmaz, Aslı Ece, Öztaş, Zafer, Eğrilmez, Emine Deniz, Uğurlu, Şeyda, Atik, Tahir, Afrashi, Filiz

“…Von Hippel-Lindau (VHL) disease is a familial cancer syndrome characterized by benign or malignant tumors which may involve more than one system. Retinal…”
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Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation by Tatlı Güneş, Burçak, Önder Siviş, Zühal, Ataseven, Eda, Malbora, Barış, Türker, Meral, Belen, Fatma Burcu, Atabay, Berna, Atik, Tahir, Işık, Esra, Özkınay, Ferda

“…To the Editor, An 11-month-old female patient was admitted to the emergency department with right occipital fracture and epidural hematoma. The father had…”
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Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations by Işık, Esra, Onay, Hüseyin, Atık, Tahir, Aslı Ece Solmaz, Terek, Demet, Gökben, Sarenur, Tekgül, Hasan, Ertürk Levent, Kantar, Mehmet, Kültürsay, Nilgün, Çoğulu, Özgür, Özkınay, Ferda

“…Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at…”
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Partial lipodystrophy of the limbs in a diabetes clinic setting by Demir, Tevfik, Akinci, Baris, Demir, Leyla, Altay, Canan, Atik, Tahir, Cavdar, Umit, Secil, Mustafa, Comlekci, Abdurrahman

“…Highlights • Partial lipodystrophy of the limbs (PLL) is a recently described form of lipodystrophy. • In contrast to other types of lipodystrophies, PLL is…”
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The relation of arterial stiffness with intrauterine growth retardation by Levent, Ertürk, Atik, Tahir, Darcan, Şükran, Ülger, Zülal, Gökşen, Damla, Özyürek, A. Ruhi

“…Background:  Much epidemiological evidence has linked low birthweight with late cardiovascular risk. Intrauterine growth retardation (IUGR) is associated with…”
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Effect of zinc sulfate on common cold in children: Randomized, double blind study by KURUGÖL, ZAFER, BAYRAM, NURI, ATIK, TAHIR

“…Background: The aim of the present randomized, double‐blind, placebo‐controlled study was to determine the efficacy of zinc sulfate on the duration and…”
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