Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sinem Kocagil"'
Autor:
Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Çiğdem Binay
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 137-145 (2024)
INTRODUCTION: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14
Externí odkaz:
https://doaj.org/article/dc998513a3bb459ca58f77550f1024b7
Autor:
Beyhan Durak Aras, Sevgi Isik, Hava Uskudar Teke, Abdulvahap Aslan, Filiz Yavasoglu, Zafer Gulbas, Fatih Demirkan, Hulya Ozen, Oguz Cilingir, Nur Sena Inci, Gulcin Gunden, Tuba Bulduk, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan, Olga Meltem Akay
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it is observed the clini
Externí odkaz:
https://doaj.org/article/ce7069f8615f4634a0687320dd93d0ec
Publikováno v:
Kardiologia Polska. 80:672-678
Heart failure with preserved ejection fraction (HFpEF) is heterogeneous clinical syndrome. Transthyretin cardiac amyloidosis (CA) is an underdiagnosed cause of HFpEF. Red flags are extremely useful for suspecting CA.We aimed to evaluate the frequency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b1d960a7c87eda23ffa76e9ee20e7a6
https://doi.org/10.33963/kp.a2022.0098
https://doi.org/10.33963/kp.a2022.0098
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:639-647
Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::757610671207fa794b4a3e230f08c6d8
https://doi.org/10.1515/jpem-2022-0047
https://doi.org/10.1515/jpem-2022-0047
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(5)
The aim of our study was to define the genotype-phenotype correlations of mutations in theDemographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed byMild HPA-not-requiring-treatment (N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::670380c7bf6a165e922e79a1ac408fbc
https://pubmed.ncbi.nlm.nih.gov/35355500
https://pubmed.ncbi.nlm.nih.gov/35355500
Autor:
Sevgi Isik, Gulcin Gunden, Eren Gunduz, Olga Meltem Akay, Abdulvahap Aslan, Hulya Ozen, Oguz Cilingir, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan, Zafer Gulbas, Beyhan Durak Aras
Publikováno v:
Cytogenetic and genome research. 161(10-11)
Deletion 13q [del(13q)] is a favorable prognostic marker if it is detected as a sole abnormality in chronic lymphocytic leukemia (CLL). However the clinical courses of cases with isolated del(13q) are quite heterogeneous. In our study, we investigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400397653253ae6851deedd20ce3de71
https://pubmed.ncbi.nlm.nih.gov/34915466
https://pubmed.ncbi.nlm.nih.gov/34915466
Autor:
Sevgi Isik, Sinem Kocagil, Sevilhan Artan, Gulcin Gunden, Beyhan Durak Aras, Hava Üsküdar Teke, Ebru Erzurumluoğlu, Nur Oguz Davutoglu, Oguz Cilingir
Publikováno v:
Volume: 43, Issue: 5 480-484
Osmangazi Tıp Dergisi
Osmangazi Tıp Dergisi
Chronic lymphocytic leukemia (CLL) is known as type of leukemia originating from clonal mature B lymphocytes and has genetic heterogeneity. Many studies have been done to clarify the genome of CLL. In these studies, del(13q) is reported as the most c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e04d877a760acc339c9b0deede9f03
https://dergipark.org.tr/tr/pub/otd/issue/64629/916009
https://dergipark.org.tr/tr/pub/otd/issue/64629/916009
Autor:
Hulya Ozen, Sevgi Isik, Beyhan Durak Aras, Filiz Yavasoglu, Oguz Cilingir, Ebru Erzurumluoglu Gokalp, Abdulvahap Aslan, Fatih Demirkan, Nur Sena Inci, Sevilhan Artan, Hava Üsküdar Teke, Olga Meltem Akay, Sinem Kocagil, Tuba Bulduk, Zafer Gulbas, Gulcin Gunden
Publikováno v:
Molecular Cytogenetics
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
Background: deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it is observed the clinical cour
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a90b4571096163dfc0db70fb9bfc76
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9314
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9314
Publikováno v:
J Pediatr Genet
Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d490e7b10eec35b76d104cf3e74269
https://europepmc.org/articles/PMC9236732/
https://europepmc.org/articles/PMC9236732/
Autor:
Can Aydın, Eylem Kıral, Ezgi Susam, Aslı Kavaz Tufan, Coskun Yarar, Nuran Çetin, Sinem Kocagil, Birgül Kırel
Publikováno v:
The Turkish Journal of Pediatrics. 64:558
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59cd71b832081c62c9385f01eec31abb
https://doi.org/10.24953/turkjped.2021.1613
https://doi.org/10.24953/turkjped.2021.1613