Search Results - "Tepgec, Fatih"

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features by Samanci, Bedia, Bilgiç, Başar, Gelişin, Özlem, Tepgeç, Fatih, Guven, Gamze, Tüfekçioğlu, Zeynep, Alaylıoğlu, Merve, Hanagasi, Hasmet A., Gürvit, Hakan, Guerreiro, Rita, Hardy, John, Emre, Murat

“…Background and purpose Nasu–Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. Behavioral…”
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Clinical and molecular genetic findings of hereditary Parkinson's patients from Turkey by Emekli, Inci, Tepgeç, Fatih, Samancı, Bedia, Toksoy, Güven, Hasanoğulları Kına, Gizem, Tüfekçioğlu, Zeynep, Başaran, Seher, Bilgiç, Başar, Gürvit, İ. Hakan, Emre, Murat, Uyguner, Zehra Oya, Hanagasi, Hasmet A.

“…The majority of Parkinson's disease (PD) ensue late-onset with a complex spectrum of environmental and genetic risk factors. Awareness of genetic causes in…”
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A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease by Guven, Gamze, Samanci, Bedia, Gulec, Cagri, Hanagasi, Hasmet, Gurvit, Hakan, Gokalp, Ebru Erzurumluoglu, Tepgec, Fatih, Guler, Suleyman, Uyguner, Oya, Bilgic, Basar

“…Alzheimer’s disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited…”
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Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family by Köseoğlu, Emel, Tepgeç, Fatih, Yetkin, Mehmet Fatih, Uyguner, Oya, Ekinci, Ayten, Abdülrezzak, Ümmühan, Hanağasi, Haşmet

“…The differential diagnosis of young-onset progressive dementia is an issue that requires effort. Recording the family history and careful clinical evaluation…”
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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy by Rüstemoğlu, Burcu Sevinç, Samanci, Bedia, Tepgeç, Fatih, Kürtüncü, Murat, Altunoglu, Umut, Gündüz, Tuncay, Yeşil, Gözde, Avcı, Şahin, Gürvit, Hakan, Bilgiç, Başar, Toksoy, Güven, Eraksoy, Mefkure, Hanağası, Haşmet, Uyguner, Zehra Oya

“…Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused…”
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Frequency of frontotemporal dementia-related gene variants in Turkey by Artan, Sevilhan, Erzurumluoglu Gokalp, Ebru, Samanci, Bedia, Ozbabalik Adapinar, Demet, Bas, Hasan, Tepgec, Fatih, Qomi Ekenel, Emilia, Cilingir, Oguz, Bilgic, Basar, Gurvit, Hakan, Hanagasi, Hasmet Ayhan, Kocagil, Sinem, Durak Aras, Beyhan, Uyguner, Oya, Emre, Murat

“…•GRN mutation frequency is higher than the other FTD related genes in Turkish cases•VCP, TARDBP, CHMP2B and FUS can be observed in FTD cases based on clinical…”
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GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION/ GJB2 ILISKILI NON-SENDROMIK ISITME KAYBI VARYANTLARININ SPEKTRUMU VE TURK TOPLUMUNDAKI SIKLIKLARI by Gulec, Cagri, Aslanger, Ayca Dilruba, Karaman, Volkan, Wollnik, Bernd, Tepgec, Fatih, Kayserili, Hulya, Uyguner, Z. Oya

“…Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social…”
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Eyelid Myoclonic Status Epilepticus: A Rare Phenotype in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Associated with ASAH1 Gene Mutation by OGUZ AKARSU, Emel, TEKTURK, Pınar, YAPICI, Zuhal, TEPGEC, Fatih, UYGUNER, Z. Oya, BAYKAN, Betul

“…Highlights • SMA-PME is a rare disease associated with mutations of ASAH1 gene. • This is the first case of SMA-PME syndrome associated with eyelid myoclonic…”
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THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME/NOONAN SENDROMU'NUN PRENATAL TANISINDA PTPN11 GEN ANALIZLERININ ETKINLIGI by Toksoy, Guven, Tepgec, Fatih, Sivrikoz, Tusba Sarac, Kalelioglu, Ibrahim Halil, Demir, Selma, Has, Recep, Yuksel, Atil, Uyguner, Zehra Oya, Basaran, Seher

“…Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell…”
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GJB2-related non-syndromic hearing loss variants’ spectrum and their frequency in Turkish population by Güleç,Çağrı, Aslanger,Ayça Dilruba, Karaman,Volkan, Wollnik,Bernd, Tebgeç,Fatih, Kayserili-Karabey,Hülya, Uyguner,Zehra Oya

“…Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social…”
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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy/Subkortikal Enfarktuslu Serebral Arteriyopati ve Lokoensefalopati Olgularinin Klinik ve Molekuler Genetik Bulgulari by Rustemoglu, Burcu Sevinc, Samanci, Bedia, Tepgec, Fatih, Kurtuncu, Murat, Altunoglu, Umut, Gunduz, Tuncay, Sayin, Gozde Yesil, Avci, Sahin, Gurvit, Hakan, Bilgic, Basar, Toksoy, Guven, Eraksoy, Mefkure, Hanagasi, Hasmet, Uyguner, Zehra Oya

“…Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused…”
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P1‐233: Sporadic Fatal Insomnia In A Young Man by Gurvit, Hakan I., Bilgiç, Başar, Nur Ozdag, Ayse Nur, Tepgec, Fatih, Sahin, Erdi, Tufekcioglu, Zeynep, Demirtas Tatlidede, Asli Demirtas, Hanağası, Haşmet, Karadeniz, Derya

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SPORADIC FATAL INSOMNIA IN A YOUNG MAN by Gurvit, Hakan I, Bilgiç, Başar, Nur Ozdag, Ayse Nur, Tepgec, Fatih, Sahin, Erdi, Tufekcioglu, Zeynep, Demirtas Tatlidede, Asli Demirtas, Hanağası, Haşmet, Karadeniz, Derya

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GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION by Güleç, Çağrı, Aslanger, Ayça, Karaman, Volkan, Wollnik, Bernd, Tepgeç, Fatih, Kayserili Karabey, Hülya, Uyguner, Zehra

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NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ by Toksoy, Güven, Tepgeç, Fatih, Saraç Sivrikoz, Tuğba, Kalelioğlu, İbrahim Halil, Demir, Selma, Has, Recep, Yüksel, Atıl, Uyguner, Zehra Oya, Başaran, Seher

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Noonan sendromu’nun prenatal tanısında PTPN11 gen analizlerinin etkinliği by Toksoy,Güven, Tepgeç,Fatih, Saraç Sivrikoz,Tuğba, Kalelioğlu,İbrahim Halil, Demir,Selma, Has,Recep, Yüksel,Atıl, Uyguner,Zehra Oya, Başaran,Seher

“…Amaç: Hücre büyüme, farklılaşma, yaşlanma ve siklus düzenlenmesinde önemli rol oynayan RAS-MAPK (Rat-sarcoma-Mitogen-activated- protein-kinase) yolağında…”
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Nasu Hakola Disease: A Rare Cause of Dementia and Cystic Bone Lesions, Report of a New Turkish Family by Köseoğlu, Emel, Tepgeç, Fatih, Yetkin, Mehmet Fatih, Uyguner, Oya, Ekinci, Ayten, Abdülrezzak, Ümmühan, Hanağasi, Haşmet

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