Search Results - "Tükün, Fatma Ajlan"
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Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents
Published in Journal of clinical research in pediatric endocrinology (01-09-2017)“…Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity. Data regarding MC4R mutations in Turkish subjects are limited…”
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2
Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion
Published in The Egyptian journal of medical human genetics (01-10-2018)“…Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. The 16-year-old…”
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3
Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy
Published in International journal of hematology (01-09-2016)“…The ETV6/RUNX1 fusion gene is a valuable prognostic marker that is frequently observed in B-cell precursor acute lymphoblastic leukemia (B-cell ALL). However,…”
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4
Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment
Published in Turkish journal of haematology (05-06-2017)“…Glucocorticoids (GCs) are the key drugs for the treatment of pediatric acute lymphoblastic leukemia (ALL). Herein, investigation of the relationship between…”
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Akut miyeloid lösemide kromozomal anomaliler: Tek merkezden 417 olgunun sitogenetik sonuçları
Published in Ankara Ueniversitesi Tip Fakültesi mecmuasi (01-01-2017)“…Amaç: Lösemi hastalarının tanısında ve izleminde sitogenetik belirteçlerin önemli rolü vardır. Lösemiler içinde akut miyelositer lösemi (AML) hastalarında,…”
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Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-11-2015)“…Androgen receptor (AR) gene mutations are the leading cause of 46,XY disorders of sex development (DSD) and are associated with varying degrees of androgen…”
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