Search Results - "Kirbiyik, Özgür"

Anaemia‐based screening for resistance to thyroid hormone alpha in children by Kağızmanlı, Gözde Akın, Kırbıyık, Özgür, Abacı, Ayhan, Böber, Ece, Yiş, Uluç, Demir, Korcan

“…Background The hypothyroid phenotype associated with resistance to thyroid hormone alpha (RTH‐α) is associated with a diverse clinical picture. On the other…”
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A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy by Çatli, Gönül, Fujisawa, Haruki, Kirbiyik, Özgür, Mimoto, Mizuho S, Gençpinar, Pinar, Özdemir, Taha Reşid, Dündar, Bumin Nuri, Dumitrescu, Alexandra M

“…SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. A…”
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Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants by Pekuz, Serdar, Güzin, Yiğithan, Sarıtaş, Serdar, Kırbıyık, Özgür, Ünalp, Aycan, Yılmaz, Ünsal

“…Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the…”
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ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey by Diniz, Gulden, Komurcuoglu, Berna, Ozyilmaz, Berk, Ozguzer, Alp, Yucel, Nur, Kirbiyik, Ozgur

“…Background/Aims: As targeted therapies are promising in the treatment of lung cancer (LC), it is important to identify the genetic variations in tumors. The…”
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Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene by Filibeli, Berna Eroğlu, Çatli, Gönül, Ayranci, İlkay, Manyas, Hayrullah, Kirbiyik, Özgür, Dündar, Bumin

“…Purpose Heterozygous loss-of-function mutations in the glucokinase ( GCK ) gene cause MODY 2, which is characterized by asymptomatic fasting hyperglycemia and…”
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Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population by Ayan, Durmuş, Kırbıyık, Özgür, Ozyilmaz, Berk

“…The case, detected during routine thalassemia (hemoglobin variant) screening, was a 25-year-old male patient of Turkish origin. Physical examination revealed…”
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Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies by Özyilmaz, Berk, Kirbiyik, Özgür, Özdemir, Taha R., Kaya Özer, Özge, Kutbay, Yaşar B., Erdogan, Kadri M., Güvenç, Merve Saka, Kale, Murat Yildirim, Gazeteci, Hande, Kiliç, Betül, Sertpoyraz, Filiz, Diniz, Gulden, Baydan, Figen, Gençpinar, Pinar, Dündar, Nihal Olgaç, Yiş, Uluç

“…Introduction Limb‐girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large…”
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A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation by Arslan, Gulcin, Acar, Sezer, Ozdemir, Taha Resid, Nalbantoglu, Ozlem, Kirbiyik, Ozgur, Koprulu, Ozge, Ozkaya, Beyhan, Ozkan, Behzat

“…Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8…”
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Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia by Arıcan, Pınar, Dündar, Nihal Olgaç, Kırbıyık, Özgür, Çavusoğlu, Dilek, Yılmaz, Sema Bozkaya, Gençpınar, Pınar

“…Background. Dystonia is a common hyperkinetic movement disorder in children; however, making an early and definitive diagnosis of dystonia can sometimes be…”
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Experiences in the molecular genetic and histopathological evaluation of calpainopathies by Ozyilmaz, Berk, Kirbiyik, Ozgur, Ozdemir, Taha R., Ozer, Ozge Kaya, Kutbay, Yasar B., Erdogan, Kadri M., Guvenc, Merve Saka, Arıkan, Şener, Turk, Tuba Sozen, Kale, Murat Yıldırım, Uludag, Irem Fatma, Baydan, Figen, Sertpoyraz, Filiz, Gencpinar, Pinar, Diniz, Gulden

“…Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is…”
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Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY) by Özdemir, Taha R, Kırbıyık, Özgür, Dündar, Bumin N, Abacı, Ayhan, Kaya, Özge Ö, Çatlı, Gönül, Özyılmaz, Berk, Acar, Sezer, Koç, Altuğ, Güvenç, Merve S, Kutbay, Yaşar B, Erdoğan, Kadri M

“…Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a…”
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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum by Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu, Bozorgmehr, Bita, Everman, David B., Stattin, Eva-Lena, Liebelt, Jan, Keller, Klaus-Michael, Bertola, Débora Romeo, van Karnebeek, Clara D.M., Bergmann, Carsten, Liu, Zhifeng, Düker, Gesche, Rezaei, Nima, Alkuraya, Fowzan S., Oğur, Gönül, Alrajoudi, Abdullah, Venegas-Vega, Carlos A., Verbeek, Nienke E., Richmond, Erick J., Kirbiyik, Özgür, Ranganath, Prajnya, Singh, Ankur, Godbole, Koumudi, Ali, Fouad A. M., Alves, Crésio, Mayerle, Julia, Lerch, Markus M., Witt, Heiko, Zenker, Martin

“…ABSTRACT Johanson–Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features,…”
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MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty by Eroğlu Filibeli, Berna, Ayrancı, İlkay, Manyas, Hayrullah, Kırbıyık, Özgür, Dündar, Bumin N., Çatlı, Gönül

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Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma by Malbora, Baris, Kirbiyik, Ozgur

“…Hemophilia A is an X-linked recessive disorder characterized by congenital deficiency of factor VIII. Mostly, males are affected. Cases of hemophilia A are…”
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Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey by Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp

“…INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and…”
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A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome by Sibel Ersan, Ozgur Kirbiyik, Turker Sarikaya, Merve Saka Guvenc, Tugba Karadeniz

“…Alport syndrome, also known as hereditary nephritis, is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing…”
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First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss by Ozyilmaz, Berk, Mercan, Gul Caner, Kirbiyik, Ozgur, Ozdemir, Taha Resid, Ozkara, Samira, Ozer Kaya, Ozge, Kutbay, Yasar Bekir, Erdogan, Kadri Murat, Saka Guvenc, Merve, Koc, Altug

“…Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with…”
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Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study by Ozdemir, Taha Resid, Ozyilmaz, Berk, Cakmak, Ozgur, Ozer Kaya, Ozge, Kose, Can, Kirbiyik, Ozgur, Keskin, Mehmet Zeynel, Koc, Altug, Zeyrek, Tugba, Kutbay, Yasar Bekir, Erdogan, Kadri Murat, Saka Guvenc, Merve

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Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy by Celik, Muhittin, Bulbul, Ali, Kirbiyik, Özgür, Kesim, Belgin, Uslu, Sinan, Sukalo, Maja, Zenker, Martin

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The Frequency and Management of TP53 Mutation Carriers in Turkish Patients with BRCA-Negative Breast Cancer Under 50 Years of Age by özdemir, taha reşid

“…OBJECTIVE Germline mutations in the TP53 gene cause Li-Fraumeni Syndrome (LFS). Breast cancer (BC) is the most common cancer that is seen in young women with…”
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