Zobrazeno 1 - 10
of 55
pro vyhledávání: '"A. Han Cebi"'
Publikováno v:
JCRPE, Vol 14, Iss 3, Pp 361-365 (2022)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations
Externí odkaz:
https://doaj.org/article/afb5bc8aca7141629c8bbb1d449c4f84
Autor:
Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi, Thomas Müller, Denise Aldrian, Andreas R. Janecke
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 6, Pp 612-619 (2021)
Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and
Externí odkaz:
https://doaj.org/article/4f1f67007e0342319775497790907672
Autor:
Ulas Emre Akbulut, Hamdi Cihan Emeksiz, Senol Citli, Alper Han Cebi, Hatice Ayca Ata Korkmaz, Gaye Baki
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss 3, Pp 350-357 (2019)
Objective: The prevalence of non‐alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non‐alcoholic fatty liver disease is closely linked to sedentary lifest
Externí odkaz:
https://doaj.org/article/0b459b0678bc4cd5a382db90406b42e8
Autor:
Tülay Kamaşak, Yeseren Nil Demirhan, Burcu Parıltan Kücükalioglu, Cavit Boz, Alper Han Cebi, İlker Eyüboğlu, Ali Cansu
Publikováno v:
Van Tıp Dergisi, Vol 26, Iss 2, Pp 265-267 (2019)
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2. The patient was diagnosed with epilepsy in our clinic for seven years and was diagnose
Externí odkaz:
https://doaj.org/article/bcb9b296cb9f4724b1078c9af876909f
Autor:
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi, Yasemin Akin
Publikováno v:
neurogenetics. 23:213-221
Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited peripheral neuropathies with a significant prevalence throughout the world and manifests both phenotypic and genetic heterogeneity. Electrophysiological studies subclassify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f9e15fe9e03f0473d1b59251ca03e9
https://doi.org/10.1007/s10048-022-00693-6
https://doi.org/10.1007/s10048-022-00693-6
Autor:
Ayberk Turkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Mehmet Gokcu, Taner Karakaya, Alper Han Cebi, Mehmet Ali Soylemez, Ahmet İlter Guney, Pinar Ata, Ahmet Arman
Publikováno v:
J Assist Reprod Genet
PURPOSE: Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbc1e5d6289dab4c13ee5da37266ee3
https://doi.org/10.1007/s10815-022-02408-0
https://doi.org/10.1007/s10815-022-02408-0
Autor:
Guven Burcu, Emanuele Bellacchio, Elif Sag, Alper Han Cebi, Ismail Saygin, Aysenur Bahadir, Guldal Yilmaz, Marialuisa Corbeddu, Murat Cakir, Francesco Callea
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 14, p 5139 (2020)
Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes
Externí odkaz:
https://doaj.org/article/09b5966f361e4129b031e7ac1eaeb771
Autor:
Elif Sağ, Alper Han Cebi, Sefa Sağ, Murat Cakir, Burcu Güven, Hatice Sonay Yalçin, Yakup Arslan, Elif Bahat Özdoğan, İlker Eyüpoğlu
Publikováno v:
Volume: 14, Issue: 5 391-395
Türkiye Çocuk Hastalıkları Dergisi
Türkiye Çocuk Hastalıkları Dergisi
AMAÇ: Karaciğerin fibrokistik hastalıkları (KFKH); intrahepatik ve/veya ekstrahepatik biliyer anormallikler sonucunda safra kanallarında genişleme, hepatik fibrozis ve kistik oluşumlarla karakterize olan kalıtsal geçişli nadir görülen bir
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c8fbb53b0b2451765a4f58f1ab3444
https://doi.org/10.12956/tchd.662772
https://doi.org/10.12956/tchd.662772
Publikováno v:
Arch Rheumatol
OBJECTIVES: This study aims to evaluate the plasma expression of microribonucleic acids (miRNAs) that may be associated with the pathogenesis of familial Mediterranean fever (FMF). PATIENTS AND METHODS: Thirty patients with FMF (18 males, 12 females;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3def7584ec5032e451d502a2822df9fe
https://doi.org/10.5606/archrheumatol.2020.7414
https://doi.org/10.5606/archrheumatol.2020.7414
Autor:
Alper Han Cebi, Şule Altıner
Publikováno v:
Molecular Syndromology. 11:197-206
Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1fc8ecaa75f43a373ecea1147bef076
https://doi.org/10.1159/000509645
https://doi.org/10.1159/000509645