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Akademický článek

BREAST CANCER KNOWLEDGE, SOURCE OF INFORMATION, AND BREAST HEALTH PRACTICES OF WOMEN IN BAHCESEHIR

Autor: Ayşe Nilüfer Özaydın, Bahadır M. Güllüoğlu, Pemra C. Ünalan, Serra Gorpe, Neslihan Cabioğlu, Birce R. Öner, Vahit Özmen

Publikováno v: European Journal of Breast Health, Vol 5, Iss 4, Pp 214-224 (2009)

Purpose: To identify level and source of information about breast cancer, and breast health practices of women, ages 40-69, who live in Bahçeşehir/İstanbul.Patients and Methods: A population-based, cross-sectional survey. It was carried out in a s

Externí odkaz: https://doaj.org/article/8d4b31b25ec64caba4cfffb8ed6e8380

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Severe hemolytic anemia associated with Hb Volga [β27(B9)Ala→Asp]: GCC→GAC at codon 27 in a Turkish family

Autor: M. Mert Sozen, Ç. Karaaslan, C. Öner, R. Öner, Cigdem Altay, Fatma Gumruk, M.A. Özdemir, Aytemiz Gurgey

Publikováno v: American Journal of Hematology. 76:378-382

A boy presented at age 4 years with severe congenital hemolytic anemia characterized by highly elevated reticulocyte count (30-50%) and prominent basophilic stippling. Hb had been 4 g/dL at age 7 months. The patient was on a monthly transfusion regim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fae5be5fa3e55ada6c61d4816aeeada9
https://doi.org/10.1002/ajh.20128

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Mitochondrial DNA sequence variation in the Anatolian peninsula (Turkey)

Autor: R. Öner, C. Öner, Hatice Mergen

Publikováno v: Journal of Genetics. 83:39-47

Throughout human history, the region known today as the Anatolian peninsula (Turkey) has served as a junction connecting the Middle East, Europe and Central Asia, and, thus, has been subject to major population movements. The present study is underta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f5b7b5eddee233589280a92270446d
https://doi.org/10.1007/bf02715828

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Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

Autor: Essam A.R. Ismail, Ryan Bisson, R. Öner, Ralf Krahe, Mohamed A. Abdelaal, Mualla Cetin, C. Öner, Zhongyuan Li, Stephan M. Tanner, Ralph Gräsbeck, Albert de la Chapelle, Harald Broch, Willy Lissens, Ceren Acar

Publikováno v: Human Mutation. 23:327-333

Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for notable clusters of cases in Finland, Norway, and the Eastern Medite

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ece4097d6e165f17afe17d1af42ce42c
https://doi.org/10.1002/humu.20014

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Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients

Autor: Esra Birben, C. Öner, Çigˇdem Altay, R. Öner, Aytemiz Gurgey

Publikováno v: European Journal of Haematology. 71:39-43

We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-bind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ff42a67b2265f672851d75f5bc468c8b
https://doi.org/10.1034/j.1600-0609.2003.00088.x

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Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Autor: C. Öner, Esra Birben, Cigdem Altay, Fatma Gumruk, R. Öner, Aytemiz Gurgey

Publikováno v: British Journal of Haematology. 118:278-281

Summary. Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, β barrel 1 domain of the coagula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d1e9400a790acf15681f634b14715dbd
https://doi.org/10.1046/j.1365-2141.2002.03571.x

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CHRONIC HEMOLYTIC ANEMIA ASSOCIATED WITH GLUCOSE 6-PHOSPHATE DEHYDROGENASE (GUADALAJARA)1159 C → T (387 ARG → CYS) DEFICIENCY ASSOCIATED WITH GILBERT SYNDROME IN A TURKISH PATIENT

Autor: Fatma Gumruk, Aytemiz Gurgey, C. Öner, Ceren Acar, R. Öner, Cigdem Altay, Idil Yenicesu

Publikováno v: Pediatric Hematology and Oncology. 19:39-44

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1ba18056679b6aa111fc66e7b1ecc0
https://doi.org/10.1080/088800102753356176

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β-Thalassaemia intermedia in a Turkish girl: homozygosity for G→A substitution at +22 relative to the β-globin cap site

Autor: Fatma Gumruk, Esra Birben, Cigdem Altay, Aytemiz Gurgey, R. Öner, M. Mert Sozen, C. Öner

Publikováno v: British Journal of Haematology. 115:90-94

We provide the first description of a homozygote patient for the G-->A substitution in the 5' UTR of the beta-globin gene. The proband was a 17-year-old girl with beta-thalassaemia intermedia who had never received a blood transfusion. The physical e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a81e92f65fed8df2c8dc81a6f2b020b3
https://doi.org/10.1046/j.1365-2141.2001.03071.x

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