Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Taner Karakaya"'
1
Akademický článek
Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer
Autor: Taner Karakaya, Ayca Kocaaga
Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Background Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pathogenic (P/LP) germline variants have been demonstrated to be harbored in a subgroup of EOBC individuals, a
Externí odkaz: https://doaj.org/article/0a0057289aab40cab60e40a82378d5ef
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2
Akademický článek
The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
Autor: Fatma Silan, Romyla Bourouba, Taner Karakaya, Onur Yildiz, Baris Paksoy, Mine Urfali, Ozturk Ozdemir
Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 19, Iss 4, Pp 437-441 (2018)
Background: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was t
Externí odkaz: https://doaj.org/article/73bc1d25823b4e519bd702dc73791dfd
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3
Akademický článek
Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?
Autor: Fatma Sılan, Baris Paksoy, Taner Karakaya, Onur Yildiz, Mine Urfali, Ozturk Ozdemir
Publikováno v: BioDiscovery, Vol 20, Iss , Pp 1-2 (2017)
Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds
Externí odkaz: https://doaj.org/article/fdd75d0e66aa4bdd9bd2afaca42e4fb9
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4
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1
Autor: Taner Karakaya, Ayberk Turkyilmaz, Deniz Eris, Mehtap Kaya, Kupra Oksuz, Meltem Aygul Eryigit, Gizem Gönen
Publikováno v: Molecular Syndromology. :1-7
Introduction: Grange syndrome (OMIM 602531) is characterized by a constellation of symptoms of hypertension, stenosis, or occlusion of different arteries (including the cerebral, renal, abdominal, and coronary vessels) with a variable occurrence of b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::791b5a72ce42ae7158904b71e1e2fcb1
https://doi.org/10.1159/000527785
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5
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
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
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6
A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels
Autor: Taner Karakaya, Fatma Silan, Ozturk Ozdemir
Publikováno v: Hemoglobin. 46:87-90
Hemoglobinopathies are the most common single-gene disorders, and β-thalassemia (β-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it is in some other countries. As a result of this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e033d594896e5b8b484fd0c50a51dace
https://doi.org/10.1080/03630269.2022.2083968
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7
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
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
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10
Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus
Autor: Deniz Eris, Taner Karakaya, Ali Evren Bilgic, Serdar Mermer, Onur Yildiz, Burak Baser
Publikováno v: American Journal of Medical Genetics Part A. 185:2198-2203
Filippi syndrome (MIM #272440), one of the craniodigital syndromes, is a rare genetic entity with autosomal recessive inheritance and characterized by pre- and postnatal growth retardation, microcephaly, distinctive facial appearance, developmental d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c1858ceb66bff70edd9004d11314fd9a
https://doi.org/10.1002/ajmg.a.62223
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