Zobrazeno 1 - 10
of 39
pro vyhledávání: '"bilgin yuksel"'
Autor:
Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S. Ayca Altincik, Cumali Gokce, Gonul Catli, Fuat Bugrul, Keenan Bartlett, Ihsan Turan, Ravikumar Balasubramanian, Bilgin Yuksel, Stephanie B. Seminara, Susan Wray, A. Kemal Topaloglu
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH p
Externí odkaz:
https://doaj.org/article/e38ffbcbad50434aa40c4aa74ba99c55
Autor:
Zeliha Haytoglu, Ozlem Herguner, Sureyya Soyupak, Ali Kemal Topaloglu, Bilgin Yuksel, Guler Ozer, H. Neslihan Onenli Mungan
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 41, Iss 1, Pp 21-27 (2016)
Purpose: We investigated the neurological outcome of 38 late-diagnosed phenylketonuria patients with magnetic resonance imaging (MRI), electroencephalography (EEG), visual evoked potentials (VEP), intelligence quotients (IQ) and examined the correlat
Externí odkaz:
https://doaj.org/article/28bc070a1d8446c6aa2dce23a9627648
Autor:
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 156-160 (2015)
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications
Externí odkaz:
https://doaj.org/article/99f367fd44c64790865f02d546307388
Evaluation of Two Different Pamidronate Treatment Protocols in Children with Osteogenesis Imperfecta
Autor:
Neslihan Onenli Mungan, Fatih Gurbuz, Eda Mengen, Ozden Ozgur, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 39, Iss 3, Pp 532-539 (2014)
Purpose: Osteogenesis imperfecta is an inherited disorder of connective tissue. Children with this condition suffer from recurrent fractures, deformities, osteoporosis and pain. Over the recent years, pamidronate became the standard treatment choice.
Externí odkaz:
https://doaj.org/article/df3ea514717a4500959eb51171000297
Autor:
Neslihan Onenli Mungan, Fatih Gurbuz, Eda Mengen, Ozden Ozgur, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 38, Iss 4, Pp 667-674 (2013)
Purpose: The main objective of this study was to compare the treatments of calcitonin and pamidronate by clinical, biochemical, and radiological findings in children with osteogenesis imperfecta and evaluate the efficiency of pamidronate treatment. P
Externí odkaz:
https://doaj.org/article/11cdf5e8baca4dc09e9809ac6e7f1700
Autor:
Eser Tasci, Mehmet Nuri Ozbek, Neslihan Onenli-Mungan, Fatih Temiz, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Eurasian Journal of Medicine, Vol 43, Iss 01, Pp 18-22 (2011)
Objective: The aim of this study was to elucidate the role of adiponectin, leptin, TNF-α and IL-6 on the early detection of the microvascular complications of type I diabetes. Materials and Methods: A total of 88 children were included in the study.
Externí odkaz:
https://doaj.org/article/56df72c190a54e3384e8e312b53eecef
Autor:
Leman Damla Kotan, Melek Yildiz, Ihsan Turan, Can Celiloglu, Bilgin Yuksel, Ali Kemal Topaloglu
Publikováno v:
American Journal of Medical Genetics Part A. 191:831-834
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d72fe7307214d7466a1dd9a5b34f351c
https://doi.org/10.1002/ajmg.a.63066
https://doi.org/10.1002/ajmg.a.63066
Publikováno v:
Hormones. 21:391-397
This study aimed to investigate the utility of annual growth velocity (GV) standard deviation scores (SDSs) and compatibility and effectiveness of biochemical parameters in long-term treatment monitoring and management of 21-hydroxylase deficiency (2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1db5c8558439b7a4c9808dbc6aa495ab
https://doi.org/10.1007/s42000-022-00354-1
https://doi.org/10.1007/s42000-022-00354-1
Autor:
Hyun-Ju Cho, Fatih Gurbuz, Maria Stamou, Leman Damla Kotan, Stephen Matthew Farmer, Sule Can, Miranda Faith Tompkins, Jamala Mammadova, S. Ayca Altincik, Cumali Gokce, Gonul Catli, Fuat Bugrul, Keenan Bartlett, Ihsan Turan, Ravikumar Balasubramanian, Bilgin Yuksel, Stephanie B. Seminara, Susan Wray, A. Kemal Topaloglu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent pubertal development and infertility, often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd283bfa015f95fd665ef8eb2f611a9c
https://doi.org/10.1101/2022.10.12.511883
https://doi.org/10.1101/2022.10.12.511883
Autor:
Bradley A. Welch, Hyun‐ju Cho, Seyit Ahmet Ucakturk, Stephen Matthew Farmer, Semra Cetinkaya, Ayhan Abaci, Gamze Akkus, Enver Simsek, Leman Damla Kotan, Ihsan Turan, Fatih Gurbuz, Bilgin Yuksel, Susan Wray, A. Kemal Topaloglu
Publikováno v:
Journal of neuroendocrinologyREFERENCES. 34(4)
Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a289268851260c38c1f56c80eba975
https://pubmed.ncbi.nlm.nih.gov/35170806
https://pubmed.ncbi.nlm.nih.gov/35170806