Çocuk Sağlığı Enstitüsü
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FENİLALANİN METABOLİZMASI BOZUKLUĞU OLAN HASTALARIN TEDAVİ REJİMLERİNE GÖRE SERUM BİSFENOL A, BİSFENOL F, FTALAT VE BAZI AĞIR METALLER ARASINDAKİ İLİŞKİNİN İNCELENMESİ
(Çocuk Sağlığı Enstitüsü, 2024-10-16)Phenylketonuria (PKU) is the most common amino acid metabolism disorder. Patients with blood phenylalanine (Phe) levels of 6 mg/dl require treatment, and the most definitive treatment is the Phe-restricted diet. Environmental ... -
NADİR METABOLİK HASTALIKLARDA TÜM EKZOM DİZİLEME VERİLERİNİN BİYOİNFORMATİK ANALİZLERİ İLE FENOTİPTEN SORUMLU VARYANTLARIN DEĞERLENDİRİLMESİ
(Çocuk Sağlığı Enstitüsü, 2024-10-30)Kosukcu, C. Bioinformatics Analysis and Variant Interpratation of Whole Exome Sequencing Data in Inborn Errors of Metabolism. Hacettepe University Graduate School of Health Sciences, Ph.D. Thesis in Molecular Metabolism, ... -
PFAPA Hastalarında Behçet Hastaları ile Karşılaştırmalı Olarak NETozis, Düşük Dansiteli Nötrofiller ve Doğal Lenfoid Hücrelerin Değerlendirilmesi.
(Çocuk Sağlığı Enstitüsü, 2024)PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis) Syndrome is an autoinflammatory disease characterized by recurrent fever, aphthous stomatitis, pharyngitis, and cervical lymphadenitis, primarily ... -
Farklı Etiyopatogeneze Sahip Hastalığı Olan Çocukların Ebeveynlerinde Aşı Kabulü Ve İlişkili Faktörler
(Sağlık Bilimleri Enstitüsü, 2024)Vaccination is the most successful, safest and most cost-effective approach to protecting children's health and preventing infectious diseases. In recent years, 'Vaccine Hesitancy’ (VH) and 'Vaccine Refusal’ (VR) have been ... -
Sınıflandırılamayan Siliyopatilerden Etkilenmiş Hastalarda Tüm Ekzom Dizileme Yöntemiyle Moleküler Etiyolojinin Belirlenmesi
(Çocuk Sağlığı Enstitüsü, 2024-02-13)Ciliopathies are a broad group of diseases that arise due to mutations in genes coding for proteins associated with cilia and centrosomes. The aim of this study is to elucidate the molecular etiology in patients with a ... -
Vankomisine Bağlı Kırmızı Boyun Sendromu Geliştiren Hastalarda Mrgprx2 Reseptör Mutasyonlarının Değerlendirilmesi
(Sağlık Bilimleri Enstitüsü, 2023-08-23)Vancomycin is a tricyclic glycopeptide antibiotic effective against Gram-positive bacteria, isolated from the bacterial species Amycolatopsis orientalis. Vancomycin use can lead to two types of hypersensitivity reactions: ... -
Mıs-C Hastalarının Hla Doku Tiplendirmesi ve Genetik Yatkınlıklarının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2023)Büyükcam,A.,Investigation of HLA Tissue Typing and Genetic Predisposition of MIS-C Patients, Hacettepe University Institute of Health Sciences Graduate School Education Master Thesis, Ankara, 2023. Multisystem Inflammatory ... -
Erken Başlangıçlı İnflamatuvar Bağırsak Hastalığı ve İnflamatuvar Bağırsak Hastalığı Benzeri Kronik İshali Olan Çocukların Sorumlu Genler Açısından Araştırılması
(Çocuk Sağlığı Enstitüsü, 2022)Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Very early onset IBD and early onset IBD are terms used to describe IBD that first presents before the age of six and before ... -
Ergenlik Döneminde Problemli Video Oyun Oynama Davranışının Kemik Mineral Dansitesi Üzerine Etkisi
(Sağlık Bilimleri Enstitüsü, 2022)Problematic video gaming behavior (PGB) refers to individuals who are at risk but do not fully meet the diagnostic criteria of Internet gaming disorder (IGD) and whose functional impairement has not yet been evident. Bone ... -
Ergen Sağlığı Ünitesine Başvuran Adolesan Obezlerde Kitle İletişim Araç Bağımlılıkları ve Uyku Düzeninin Psikiyatrik Semptomlarla İlişkisinin Değerlendirilmesi
(Sağlık Bilimleri Enstitüsü, 2021-05-21)Y. Durmaz. The Evaluation of the Relationship Between Mass Media Tool Dependencies and Sleep Patterns and Psychiatric Symptoms in Obese Adolescents Applying to the Division of Adolescent Medicine. Hacettepe University. ... -
Sesamum İndicum L. (Susam) X Papaver Somniferum L. (Haşhaş) Arasındaki Çapraz Reaksiyonların Western Blot Yöntemi ile Gösterilmesi
(Sağlık Bilimleri Enstitüsü, 2021)Yıldız D., Determination Of The Cross Reaction Between Sesamum indicum L. x Papaver somniferum L. With Western Blott Method Hacettepe University Graduate School of Health Sciences Molecular and Immunological Basics of ... -
Erişkinlerde İnflamatuvar Barsak Hastalığı Ve Çölyak Hastalığı Tanıları İle İzlenen Hastalarda LRBA (Lps-Responsive Beige-Like Anchor) Eksikliği İle İlişkili Primer İmmün Yetmezlik Varlığının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2020-12)In the present study, it was aimed to investigate the presence of the primary immunodeficiency disorder associated with LRBA deficiency in adult patients followed-up with diagnosis of inflammatory bowel disease (IBD) and ... -
Prognostic Significance of Notch1 and Fbxw7 Mutations in Pediatric T-All
(Hindawi Ltd, 2010)The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ... -
Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features
(Wiley, 2015)Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ... -
Identification Of Mutations And Evaluation Of Cardiomyopathy In Turkish Patients With Primary Carnitine Deficiency
(Springer-Verlag Berlin, 2012)Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused ... -
Interleukin-1 Induced Nuclear Factor-B Binds to a Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif 9 Promoter in Human Chondrosarcoma Cells
(Spandidos Publ Ltd, 2015)Nuclear factor-B (NF-B) is involved in the regulation of inflammation-associated genes. NF-B forms dimers which bind with sequences referred to as NF-B sites (9-11 bp). A disintegrin-like and metalloproteinase with ... -
Discovery of Biomarkers In Rare Diseases: Innovative Approaches By Predictive and Personalized Medicine
(Springer, 2016)There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ... -
Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ... -
Myocilin Mt1 Promoter Polymorphism In Turkish Patients With Primary Open Angle Glaucoma
(Molecular Vision, 2005)Purpose: To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients. ... -
Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ...
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