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Toplam kayıt 55, listelenen: 21-30
A Primary Immunodeficiency Characterized By Defective Immunoglobulin Class Switch Recombination And Impaired Dna Repair
(2007)
Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic ...
Nonimmune Hydrops Fetalis In Two Cases Of Consanguineous Parents And Associated With Hereditary Spherocytosis And Hemophagocytic Hystiocytosis
(Nature Publishing Group, 2007)
Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with ...
Refining Genotype - Phenotype Correlations in Muscular Dystrophies with Defective Glycosylation of Dystroglycan
(Oxford Univ Press, 2007)
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of ...
Natural History And Early Diagnosis Of Lad-1/Variant Syndrome
(Amer Soc Hematology, 2007)
The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ...
Proton Mr Spectroscopy: Higher Right Anterior Cingulate N-Acetylaspartate/Choline Ratio in Asperger Syndrome Compared with Healthy Controls
(Amer Soc Neuroradiology, 2007)
BACKGROUND AND PURPOSE: One former study reported higher prefrontal N-acetylaspartate (NAA) levels in patients with Asperger syndrome (AS). The objective of the current study was to test the hypothesis that patients with ...
The Novel Neuronal Ceroid Lipofuscinosis Gene Mfsd8 Encodes A Putative Lysosomal Transporter
(Univ Chicago Press, 2007)
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially ...
Hyperform Balloon-Assisted Endovascular Neck Bypass Technique To Perform Balloon Or Stentassisted Treatment Of Cerebral Aneurysms
(Amer Soc Neuroradiology, 2007)
We describe a technique to bypass aneurysm neck using the HyperForm balloon to perform balloon- or stent-assisted enclovascular treatment of complex large or giant aneurysms with very wide neck in which other methods would ...
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( ...
Clinical Characteristics Of Caroli'S Disease
(W J G Press, 2007)
Caroli's disease is a rare congenital condition characterized by non-obstructive saccular or fusiform dilatation of larger intrahepatic bile ducts. Cholangitis, liver cirrhosis, and cholangiocarcinoma are its potential ...
Clinical Characteristics Of Caroli'S Syndrome
(Baishideng Publishing Group Inc, 2007)
Caroli's syndrome is characterized by multiple segmental cystic or saccular dilatations of intrahepatic bile ducts associated with congenital hepatic fibrosis. The clinical features of this syndrome reflect both the ...