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Mutations In The Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome And Occur In Exons 8 And 9
(Nature Publishing Group, 2006)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations ...
Recurrent Salmonella Bacteremia in Interleukin-12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2006)
Interleukin-12 receptor beta 1 (IL12RB1) deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous; ...
Spectrum And Clinical Implications Of Syntaxin 11 Gene Mutations In Familial Haemophagocytic Lymphohistiocytosis: Association With Disease-Free Remissions And Haematopoietic Malignancies
(Bmj Publishing Group, 2006)
Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation ...
Rosiglitazone-Associated Pseudotumour Cerebri
(Springer, 2006)
A Classification of Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura and Related Disorders
(Elsevier Science Inc, 2006)
The diagnostic terms hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) are based on historical and overlapping clinical descriptions. Advances in understanding some of the causes of the syndrome ...
Mutations In Slc34A2 Cause Pulmonary Alveolar Microlithiasis And Are Possibly Associated With Testicular Microlithiasis
(Cell Press, 2006)
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, ...
Detection Of A Pseudoaneurysm In The Knee Joint With Doppler Imaging After Blunt Trauma
(Amer Inst Ultrasound Medicine, 2006)
Pseudoaneurysms are secondary to the disruption of vascular wall continuity and are characterized by a cystic structure and swirling blood flow inside. They are commonly seen in contemporary medical practice secondary to ...
The Role Of Nitric Oxide In The Electrical Field Stimulation-Induced Contractions Of Sphincter Of Oddi And Gallbladder Strips In Guinea Pigs
(Japanese Pharmacological Soc, 2006)
The aim of this study was to investigate the modulatory role of nitric oxide (NO) in the electrical field stimulation (EFS)-induced contractions of isolated sphincter of Oddi (SO) and gallbladder strips from guinea pigs. ...
Congenital Contractural Arachnodactyly (Beals Syndrome)
(2006)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae ...
Molecular And Clinical Spectrum Of Type I Plasminogen Deficiency: A Series Of 50 Patients
(Amer Soc Hematology, 2006)
Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, ...
Lower Incisor Retraction with a Modified Corticotomy
(E H Angle Education Research Foundation, Inc, 2006)
This case report demonstrates the orthodontic treatment facilitated with a new conservative corticotomy technique to shorten the treatment time during lower incisor retraction. The patient was a 22-year-old woman with ...
Improvement In Estimating The Population Mean In Simple Random Sampling
(Pergamon-Elsevier Science Ltd, 2006)
This paper proposes some estimators for the population mean using the ratio estimators presented in [C. Kadilar, H. Cingi, Ratio estimators in simple random sampling, Applied Mathematics and Computation 151 (2004) 893-902] ...
Preconcentration and Determination of Lead, Cadmium and Nickel From Water Samples Using a Polyethylene Glycol Dye Immobilized on Poly(Hydroxyethylmethacrylate) Microspheres
(Japan Soc Analytical Chemistry, 2006)
A simple and sensitive preconcentration analysis-atomic absorption spectrometric procedure is described for the determination of lead, cadmium and nickel. The method is based upon on-line preconcentration of metal ions on ...
Comparison Of The Bordered Pits Of Two Species Of Spruce (Pinaceae) In A Green And Kiln-Dried Condition And Their Effects On Fluid Flow In The Stem Wood In Relation To Wood Preservation
(Oxford Univ Press, 2006)
The relationship between bordered pit aspiration, pit sizes and permeability measured as preservative uptake and expressed as porosity was examined in two species of spruce, Sitka spruce (Picea sitchensis (Bong.) Carr.) ...
Characterization Of The Yeast Flora Present In Some Turkish High-Sugar Products
(Microbiol Res Foundation, 2006)
In this study, 129 Turkish high-sugar products were examined in terms of their yeast flora and 73 representative strains were isolated. Yeast isolates were identified at species level by using Apilab Plus (bioMerieux, ...
Antimicrobial Activities of Some Bacillus Spp. Strains Isolated From The Soil
(Elsevier Gmbh, Urban & Fischer Verlag, 2006)
In this study a total of 29 Bacillus species isolated from the soil was analyzed using the agar diffusion method in terms of their general, inhibition effects to some test bacteria. It has been found that isolates are ...
Asymptotic Calculation of Inviscidly Absolutely Unstable Modes of the Compressible Boundary Layer on a Rotating Disk
(Pergamon-Elsevier Science Ltd, 2006)
In this work a long-wavelength asymptotic approach is used to analyze the region of absolute instability in the compressible rotating disk boundary layer flow. Theoretically determined values of branch points for the ...
Global Attractors For The Plate Equation With A Localized Damping And A Critical Exponent In An Unbounded Domain
(Academic Press Inc Elsevier Science, 2006)
In this paper, we study the asymptotic behavior of solutions for the plate equation with a localized damping and a critical exponent. We prove the existence, regularity and finite dimensionality of a global attractor in ...