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Toplam kayıt 25, listelenen: 1-10
Mefv Mutations In Systemic Jia
(BioMed Central, 2008)
Background: Systemic form of juvenile idiopathic arthritis (JIA) is regarded as an autoinflammatory disease. Certain genetic polymorphisms in genes coding inflammatory proteins have been associated with the disease. On the ...
Mutation Analysis Of The Pink1 Gene In 391 Patients With Parkinson Disease
(Amer Medical Assoc, 2008)
Objectives: To determine the frequency, distribution, and clinical features of Parkinson disease (PD) with PINK1 mutations. Design: Retrospective clinical and genetic review. Setting: University hospital. Patients: We ...
Mutations in A Human Robo Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
(Amer Assoc Advancement Science, 2004)
The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form ...
Performance of Three Pcr Methods Targeting Different Regions of Viral Genome for the Detection of Ttv in Non A-E Hepatitis, Chronic B and C Hepatitis and Healthy Blood Donors
(Springer, 2006)
TT virus (TTV) was suggested to be the etiologic agent for non A-E hepatitis but this could not yet be proven due to high detection rates not only in hepatitis but also in healthy persons and sensitivity differences of PCR ...
Lens Concentration of Ofloxacin and Lomefloxacin in an Experimental Endophthalmitis Model
(Elsevier, 2007)
Background: Bacterial endophthalmitis is a serious complication of ocular surgery and penetrating trauma. The primary causative organisms are strains of Staphylococcus aureus and Staphylococcus epidermidis. Fluoroquinolones ...
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 ...
Antimicrobial Resistance In Invasive Strains Of Escherichia Coli From Southern And Eastern Mediterranean Laboratories
(ESCMID, 2008)
From January 2003 to December 2005, 5091 susceptibility test results from invasive isolates of Escherichia coli, collected from blood cultures and cerebrospinal fluid routinely processed within 58 participating laboratories, ...
Molecular Investigation Of A Fungemia Outbreak Due To Candida Parapsilosis In An Intensive Care Unit
(Elsevier Brazil, 2008)
We investigated a nosocomial cluster of four Candida parapsilosis fungemia episodes that occurred in a neurological intensive care unit over a two-week period. The four infected patients had received parenteral nutrition ...
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause Of Neonatal Death, Explained By Tpit Gene Mutations
(Endocrine Soc, 2005)
Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of ...