Zobrazeno 1 - 10
of 152
pro vyhledávání: '"Ozgur Cogulu"'
Autor:
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yie
Externí odkaz:
https://doaj.org/article/a0421072dfa4463f9a6101d635380e82
Autor:
Gizem Kok Kilic, Erhan Pariltay, Emin Karaca, Burak Durmaz, Huseyin Ekici, Metehan Imamoglu, Firat Okmen, Haluk Akin, Ozgur Cogulu
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 122-126 (2022)
Objective: Tetrasomy 9p is a rare fetal condition. Cases are usually mosaic. Here, we present a non-mosaic tetrasomy 9p case with cytogenetic analysis, fluorescence in situ hybridization, microarray data, ultrasound findings, and phenotypic presentat
Externí odkaz:
https://doaj.org/article/7e0b6c8167b34c64b5ec7fcc4b839b03
Autor:
Necil Kutukculer, Ezgi Topyildiz, Afig Berdeli, Burcu Guven Bilgin, Ayca Aykut, Asude Durmaz, Ozgur Cogulu, Guzide Aksu, Neslihan Edeer Karaca
Publikováno v:
Clinical Case Reports, Vol 9, Iss 4, Pp 2023-2031 (2021)
Abstract We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long‐term clinical and genetical experiences. Some CVID patients have the same disease‐causing mutations in P
Externí odkaz:
https://doaj.org/article/ba0b3403cfbd40dda11f638b3d0b7a7e
Autor:
Necil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, Ayca Aykut, Erhan Pariltay, Ozgur Cogulu
Publikováno v:
Case Reports in Immunology, Vol 2018 (2018)
When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient re
Externí odkaz:
https://doaj.org/article/ed6b246a55e540279e39bafcad0fa081
Autor:
Nazli Burcu Ozbaran, Senay Celenay Ozyasar, Nurhak Dogan, Helin Yilmaz Kafali, Esra Isik, Aysegul Satar, Sezen Kose, Tahir Atik, Ozgur Cogulu
Publikováno v:
Clinical child psychology and psychiatry. 27(4)
Research on areas such as social cognition, autistic traits, and minor physical anomalies in comorbid Specific Learning Disorder (SLD) and attention-deficit/hyperactivity disorder (ADHD) is limited. In this study, we compared these areas in children
Autor:
Afig Berdeli, Guzide Aksu, Neslihan Edeer Karaca, Necil Kutukculer, Burcu Guven Bilgin, Asude Durmaz, Ozgur Cogulu, Ayca Aykut, Ezgi Topyildiz
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 4, Pp 2023-2031 (2021)
Clinical Case Reports, Vol 9, Iss 4, Pp 2023-2031 (2021)
We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so
Autor:
Tahir Atik, Aysun Ata, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Esra Isik, Damla Gökşen, Ozgur Cogulu, Durdugul Ayyildiz Emecen, Samim Özen
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 52-60 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Objective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia,
Autor:
Birsen Şentürk Pilan, Tuğçe Özcan, Ibrahim Ulman, Didem Çelik, Samim Özen, Damla Gökşen, Ferda Ozkinay, Ozgur Cogulu, Ali Avanoglu, Şükran Darcan, Burcu Özbaran, Hüseyin Onay, Sibel Tiryaki
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 23-33 (2021)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Objective The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD). Methods Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary D
Autor:
Ozgur Cogulu, Esra Isik, Hüseyin Onay, Nilgün Kültürsay, Hasan Tekgul, Demet Terek, Feriştah Özkinay, Mehmet Kantar, Sarenur Gökben, Tahir Atik, Aslı Ece Solmaz, Ertürk Levent
Publikováno v:
Erciyes Medical Journal, Vol 43, Iss 1, Pp 54-60 (2020)
Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches,
Autor:
Ferda Ozkinay, Tahir Atik, Ozgur Cogulu, Joo Enn Ooi, Pelin Özlem Şimşek Kiper, Eda Utine, Esra Isik, Duygu Arican, Şükran Darcan, Samim Özen
Publikováno v:
American Journal of Medical Genetics Part A. 185:461-468
3M syndrome is a rare autosomal recessive genetic disorder characterized by severe growth retardation, dysmorphic facial features, skeletal dysplasia, and normal intelligence. Variants in CUL7, OBSL1, and CCDC8 genes have been reported to be responsi