Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ozlem, Gorukmez"'
Autor:
Orhan Gorukmez, Ozlem Gorukmez, Ali Topak, Meral Seferoglu, Ali O Sivaci, Asuman Ali, Nermin Tepe, Sibel C Kabay, Ozlem Taskapilioglu
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 484-490 (2023)
Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous a
Externí odkaz:
https://doaj.org/article/6029d47c199540d0940b793ba7a031e5
Autor:
Veysel GOK, Firdevs AYDIN, Alper OZCAN, Ebru YILMAZ, Ekrem UNAL, Musa KARAKUKCU, Türkan PATIROGLU, Mehmet Akif OZDEMIR, Filiz KARAMAN, Orhan GORUKMEZ, Ozlem GORUKMEZ, Atil BISGIN
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S65- (2021)
Objective: The programmed cell death 1 (PD-1) receptor is an immune checkpoint receptor expressed by activated T cells. PD-1 inhibits the immune system by binding to its ligands expressed on tumor cells. Nivolumab and pembrolizumab are some of the mo
Externí odkaz:
https://doaj.org/article/8fc9fac9b6054cc2b9b1c3e60f6e9bd4
Publikováno v:
American Journal of Medical Genetics Part A. 191:1557-1564
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e559ee40a549297a93b0cf4a44b64be6
https://doi.org/10.1002/ajmg.a.63190
https://doi.org/10.1002/ajmg.a.63190
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:11-18
Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::791ee63057d8b614541a326fb422b082
https://doi.org/10.1515/jpem-2020-0352
https://doi.org/10.1515/jpem-2020-0352
Autor:
Ozlem GORUKMEZ
Publikováno v:
OSMANGAZİ JOURNAL OF MEDICINE.
Next-generation sequencing tests have become a part of the diagnostic process in most fields of medicine. Especially with whole-exome sequencing (WES) studies, the rate of diagnosis has increased in rare hereditary diseases. In this study, we aimed t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b98afddc4521da416ac6a801068fb3d7
https://doi.org/10.20515/otd.1115008
https://doi.org/10.20515/otd.1115008
Publikováno v:
Neurological Research. 43:744-750
Purpose: Pathogenic variants of the WWOX gene have been linked to sexual differentiation disorders, spinocerebellar ataxia, and epileptic encephalopathy (EE). We evaluated the clinical and molecula...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a475b3d0e4b7e8c5e3b891526beed4f
https://doi.org/10.1080/01616412.2021.1932173
https://doi.org/10.1080/01616412.2021.1932173
Publikováno v:
Fetal and Pediatric Pathology. 40:702-706
Introduction: Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2c9e49946df08406f2e89e762358c31
https://doi.org/10.1080/15513815.2020.1737991
https://doi.org/10.1080/15513815.2020.1737991
Publikováno v:
Cureus
The genetic defect of MYO5B is usually associated with microvillus inclusion disease (MVID). MYO5B mutations are one of the rare causes of progressive familial intrahepatic cholestasis (PFIC) with normal/low gamma-glutamyl transferase (GGT). In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d9df9a282a57b0079894a3e37004d9
http://europepmc.org/articles/PMC8649673
http://europepmc.org/articles/PMC8649673
Autor:
Orhan Gorukmez, Ozlem Gorukmez
Publikováno v:
Molecular Syndromology. 11:228-231
Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the Cstf2t gene in male mice results in infertility. No disease-associated mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3e874fcbdc16521b5ed38171339b49c
https://doi.org/10.1159/000509686
https://doi.org/10.1159/000509686
Publikováno v:
Fetal and Pediatric Pathology. 38:534-537
Introduction: A genetic cause of the protein-losing enteropathy (PLE) disease Diarrhea 10 (DIAR10) are mutations in the recently described PLVAP (plasmalemma vesicle protein). Case report: An infant with fatal PLE had a novel homozygous frameshift mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::750019d114076f0aa11b82996dbf26b9
https://doi.org/10.1080/15513815.2019.1627624
https://doi.org/10.1080/15513815.2019.1627624