Browsing Çocuk Sağlığı Enstitüsü by Title
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Ağır Kombine İmmün Yetmezlikli Hastalarda, Hastalığa Neden Olan Genetik Defektlerin Yeni Nesil Dizileme Yöntemiyle Araştırılması
(Çocuk Sağlığı Enstitüsü, 2015)Severe combined immunodeficiency is the most severe form of primary immunodeficiencies. Patients with SCID present with high susceptibility to fatal bacterial, viral and fungal infections in their first year of life. Early ... -
Anoreksiya Nervoza Tanısı Alan Ergenlerde Mesane ve İşeme Disfonksiyonunun Değerlendirilmesi
(Sağlık Bilimleri Enstitüsü, 2018-12-31)Studies have shown that protein-energy malnutrition in adolescents with anorexia nervosa (AN) is an under-recognized cause of muscle dysfunction. However, the detrusor instability in adolescents with AN has never, to our ... -
Aspects Of Pre-Eclamptic Toxemia of Pregnancy, Consanguinity, And Twinning In Ankara
(British Med Journal Publ Group, 1976)It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by ... -
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 ... -
Effects Of Respiration On Left Ventricular Diastolic Function In Healthy Children
(The European Society of Cardiology, 1996)Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 125 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic ... -
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 ... -
Metabolom ve Transkriptom Profillemesi ile İnsan Kemik İliğinde Hematopoetik Niş Karakterizasyonu
(Çocuk Sağlığı Enstitüsü, 2015)In model organisms and animal experiments, it has been shown that hematopoietic stem cells (HSC) in bone marrow have special organizations and they provide this organization through special microenvironment called niche. ... -
Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ... -
Muhtemel Otoimmün Lenfoproliferatif Sendrom (Alps) Tanısıyla Izlenen Hastaların Bilinen Moleküler Defektler Yönünden Araştırılması
(Çocuk Sağlığı Enstitüsü, 2014)Apoptosis plays a crucial role in immune homeostasis. The interaction between Fas and FasL, essential molecules in an apoptosis pathway, play an important role in the termination of the immune response, regulation of ... -
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 ... -
Pubertal Jinekomasti Olgularında Tamoxifen Tedavisinin Pubertal Kemik Gelişimi Üzerindeki Etkisi
(Çocuk Sağlığı Enstitüsü, 2014)During puberty in both sexes endogeneous estrogen has a biphasic effect on epiphyses where at low levels it leads to an increase in height and bone mass whereas with higher levels this leads to closure of the epiphyses. ... -
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 ... -
Sık Görülen Değişken İmmün Yetmezlik Tanısı Olan Hastalarda Hla Sınıf I ve Hla Sınıf Iı Allellerinin Sıklığının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2018)Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disease characterized by poor response to vaccination and recurrent infections with B cell differentiation and antibody production defects. ... -
Yaygın Değişken İmmün Yetmezlik Hastalarının Klinik, İmmünolojik ve Genetik Özelliklerinin B Hücre Alt Grup Özellikleri ve KREC Sayıları ile Korelasyonunun Araştırılması
(Sağlık Bilimleri Enstitüsü, 2019)Yaz, I. Investigation of the Correlation Between Clinic, Immunologic and Genetic Features with B Cell Subgroup Characteristics and KREC Levels of Common Variable Immunodeficiency Patients. Hacettepe University, Institute ... -
Yaygın Değişken İmmün Yetmezlik Tanılı Hastalarda LRBA Defektinin Araştırılması
(Sağlık Bilimleri Enstitüsü, 2017-07-24)ABSTRACT Çağdaş Ayvaz, DN. Investigation of LRBA defect in patients with common variable immunodeficiency, Institute of Health Sciences, Program of Immunology, PhD. Thesis, Ankara, 2017. Primary immunodeficiencies are ...
