Hacettepe University Institutional Repository
Hacettepe University Institutional Repository is a growing collection of Hacettepe University’s research that includes peer-reviewed articles, technical reports, working papers, theses and more.
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(Cell Press, 1999)Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
Successful Ocreotide And Medium-Chain Triglyceride Therapy For Cylothorax In A Patient With Noonan Syndrome: Case Report (Ortadogu Ad Pres & Publ Co, 2010)Noonan syndrome (NS), is an autosomal dominant disorder commonly seen in childhood and is characterized by short stature, congenital heart defects and facial abnormalities (especially in adults) along with thoracic deformity. ...
Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1 (Cell Press, 2012)Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ...
Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy (Cell Press, 2014)Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ...
(Cell Press, 2001)Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ...
Recurrent Viral Infections Associated With A Homozygous Coro1A Mutation That Disrupts Oligomerization And Cytoskeletal Association (Mosby-Elsevier, 2016)Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
Sequence Analysis And Homology Modeling Suggest That Primary Congenital Glaucoma On 2P21 Results From Mutations Disrupting Either The Hinge Region Or The Conserved Core Structures Of Cytochrome P4501B1 (Cell Press, 1998)We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ...
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature (Karger, 2007)Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ...