Zobrazeno 1 - 10
of 21
pro vyhledávání: '"NILGÜN, TANRIVERDI"'
Autor:
Nilgün TANRIVERDİ, Ayfer PAZARBAŞI, Dilara Süleymanova KARAHAN, İlker GÜNEY, Deniz TAŞTEMİR, Erdal TUNÇ, Osman DEMİRHAN, Özlem HERGÜNER
Publikováno v:
Cukurova Medical Journal, Vol 38, Iss 3, Pp 540-545 (2013)
Giriş: Zeka geriliği, genel populasyonda %2-3 gibi oldukça yüksek bir oranda bulunan ve vakaların %50"sinden fazlasında sebebi bulunamayan bir sağlık problemidir. En önemli nedenlerinden birisi kromozom düzensizlikleri olup hasta seçimi ve
Externí odkaz:
https://doaj.org/article/e82f085f51e243bc8969ec56328fc47b
Autor:
Nilgün TANRIVERDİ, Ayfer PAZARBAŞI, Dilara KARAHAN, Ayşe AVCI, Ayşegül Yolga TAHİROĞLU, Erdal TUNÇ, Osman DEMİRHAN
Publikováno v:
Cukurova Medical Journal, Vol 38, Iss 1, Pp 108-113 (2013)
Agresif davranış ve hiperaktivite, nedeni ve patogenezi bilinmeyen genetik nörogelişimsel hastalıklardır. Perisentrik inv(10)(p11.2;q21.2) mutasyonu sitogenetik laboratuarlarında sıklıkla tanımlanmaktadır. Bu olgu fenotipik olarak sessizdi
Externí odkaz:
https://doaj.org/article/8454f5d16a0643cdb5a77939147b62a7
Autor:
Onur ÖZER, Osman DEMİRHAN, Erdal TUNC, Hüseyin BAĞCI, Dilara KARAHAN, Nilgün TANRİVERDİ, Bertan YILMAZ, Ali İrfan GÜZEL, İbrahim KESER
Publikováno v:
Cukurova Medical Journal, Vol 37, Iss 2, Pp 76-83 (2012)
Amaç: Kalıtımla geçen mental retardasyonun en yaygın nedeni Frajil X sendromudur (FXS). X kromozomu üzerinde bulunan FMR1 geninde meydana gelen bir mutasyon, bu sendroma yol açmaktadır. Tanı için kromozom analizi ve moleküler genetik testl
Externí odkaz:
https://doaj.org/article/9f6b80c6b3034f3a92f9803dc181e9e1
Publikováno v:
Global Journal of Fertility and Research. 1:006-010
Aim of the study: Infertility is a relatively common health condition, affecting nearly 15% of all couples, and has been estimated that nearly 50% of infertility cases are due to genetic defects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fda48d2750e015c2e688adf144ac96c6
https://doi.org/10.17352/gjfr.000002
https://doi.org/10.17352/gjfr.000002
Today, breast cancer (BC) is the most commonly occurring cancer among women. Several studies have suggested that the proportion of BC can be attributed to a genetic factor that may be as high as 30%. The aim of the present study was to describe the t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e2fad61dd7de9b95f54f7185145d384
Autor:
Nilgün Tanriverdi, Mehmet Bertan Yilmaz, Osman Demirhan, Hale Oksuz, Sabriye Kocatürk-Sel, Mehmet Ali Erkoç
Isochromosome Y is one of the structural anomalies of the Y chromosome associated with a 45,X cell line and a broad spectrum of phenotypes. We present a case of de novo 46,X,+mar detected in a 17-yearold male patient. He had shortening of the right l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d745b62be356f186ee1bc9cec600427e
https://hdl.handle.net/20.500.12605/16070
https://hdl.handle.net/20.500.12605/16070
Autor:
Ayfer Pazarbaşı, Davut Alptekin, Ersin Nazlıcan, Derya Gümürdülü, Mehmet Bertan Yilmaz, Ümit Lüleyap, L Ozpak, Nilgün Tanriverdi, Osman Demirhan, Fatma Tuncay Özgünen
Publikováno v:
Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 91-96 (2013)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc932bd7c3b11a46cb20adaa9cfb9fe
https://doaj.org/article/f0edf95c7f32494e8b4f51bf94248e53
https://doaj.org/article/f0edf95c7f32494e8b4f51bf94248e53
PubMedID: 26874988 In this retrospective study, karyotype results of 1510 couples with a history of recurrent spontaneous abortion were evaluated. The study was conducted at BalcalI Hospital in Adana region of Turkey. For all cases, peripheral blood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1231bb62da57308489063788d23ef50
https://hdl.handle.net/20.500.12605/11962
https://hdl.handle.net/20.500.12605/11962
Publikováno v:
Human Genetics & Embryology.
Objectives: Hypogonadism is the clinical manifestation of the impaired function of the testes and the ovaries, and is either due to endocrinological problems or chromosomal abnornlalities (CA). Chromosomal analysis is one important piece in the hypog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0a453456f28ac7c0433487eba07c476
https://doi.org/10.4172/2161-0436.1000124
https://doi.org/10.4172/2161-0436.1000124
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