Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Asli Subasioglu Uzak"'
Publikováno v:
The EPMA Journal
Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c175f3b7b79a584a34bf55cc4dba421
https://doi.org/10.1007/s13167-011-0080-3
https://doi.org/10.1007/s13167-011-0080-3
Publikováno v:
The EPMA Journal
Turkey is one of the leading countries with its developing economy, high young population, and with its geopolitical location being an intersection between Asia and Europe. It is aimed at setting a good example for developed and developing countries
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::893cd9b341664d5aafb2bb1ad4bf0bcb
https://doi.org/10.1007/s13167-010-0049-7
https://doi.org/10.1007/s13167-010-0049-7
Autor:
Joseph Foster, Guney Bademci, Asli Subasioglu-Uzak, Oscar Diaz-Horta, Susan H. Blanton, Zhongmin Lu, Suna Tokgoz-Yilmaz, Mustafa Tekin, Alexandra A. DeSmidt, Rahul Mittal, Clemer Abad, F. Basak Cengiz, M'hamed Grati, Lei Cao, Xue Zhong Liu, Katherina Walz, Amjad Farooq, Duygu Duman
In a large consanguineous Turkish kindred with recessive nonsyndromic, prelingual, profound hearing loss, we identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegregates with the phenotype in the family. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2aa8e4dbcb78c953a1f662ad852041f
https://europepmc.org/articles/PMC4103326/
https://europepmc.org/articles/PMC4103326/
Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2fc7ea31934f59c444f24efa947cff
https://europepmc.org/articles/PMC5483946/
https://europepmc.org/articles/PMC5483946/
Autor:
Norio Sakai, Fatih Kardaş, Mehmet Canpolat, Asli Subasioglu Uzak, Ali Yikilmaz, Mohammad Arif Hossain
A clear cut genotype-phenotype correlation for Krabbe disease is not available. Therefore, it is important to identify new mutations and their associated phenotypes to predict the prognosis of the disease. The aim of this study is to identify the cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f55bd0e4d89c1dbd5e7f6198bb766d5
https://avesis.erciyes.edu.tr/publication/details/6d16f217-3bdd-4f40-b217-8e445df2f10b/oai
https://avesis.erciyes.edu.tr/publication/details/6d16f217-3bdd-4f40-b217-8e445df2f10b/oai
Publikováno v:
Genetic testing and molecular biomarkers. 17(3)
Background: Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea88f3b79a8dc1b69526a35846e37f5c
https://pubmed.ncbi.nlm.nih.gov/23297803
https://pubmed.ncbi.nlm.nih.gov/23297803
Autor:
Sebastiano Calandra, Asli Subasioglu Uzak, Tommaso Fasano, Paolo Zanoni, Elda Favari, Adrian J Park, Pietro Minuz, Livia Pisciotta, Michael D. Feher, Fatih Kardaş, Stefano Bertolini, Annalisa Sechi, Patrick Deegan, Franco Bernini, Ben Jones, Maria Pia Adorni, Bruno Bembi, Claudio Rabacchi, Thinn Hlaing, Andrea Dardis
Publikováno v:
Molecular genetics and metabolism. 107(3)
The objective of the study was the characterization of ABCA1 gene mutations in 10 patients with extremely low HDL-cholesterol. Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e0242f24da5d5bf43fcf260c25f84ba
https://pubmed.ncbi.nlm.nih.gov/22959828
https://pubmed.ncbi.nlm.nih.gov/22959828
Autor:
Kemal O. Yariz, Asli Subasioglu Uzak, Duygu Duman, Mustafa Tekin, Tom Walsh, Gogsen Onalan, Michail Spiliopoulos, Mary Claire King
Publikováno v:
Fertility and sterility. 96(2)
Objective To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis. Design Whole-exome sequencing in the context of clinical genetics. Setting University hospital. Patient(s) Two wome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14486ff0cf257d41d139b9436c00e526
https://pubmed.ncbi.nlm.nih.gov/21683950
https://pubmed.ncbi.nlm.nih.gov/21683950
Autor:
Asli Subasioglu Uzak, Oguzhan Bahadir, Fatma Colak, Cetin Saatci, Muhammet Ensar Dogan, Murat Erdogan, Munis Dundar, Burhan Balta, Sevda Yesim Karabulut
Publikováno v:
Current Opinion in Biotechnology. 22:S106-S107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0f1546b8cec92fb9c65326ec8a95c56
https://doi.org/10.1016/j.copbio.2011.05.339
https://doi.org/10.1016/j.copbio.2011.05.339
Publikováno v:
Current Opinion in Biotechnology. 24:S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f99ca26b564dcc70f4ca3210c927bc28
https://doi.org/10.1016/j.copbio.2013.05.301
https://doi.org/10.1016/j.copbio.2013.05.301