Top PDF Necesidades de formación de los docentes de bachillerato de la Unidad Educativa Liceo Naval Rafael Andrade Lalama de la provincia del Guayas, ciudad de Guayaquil, periodo 2012 2013
Detecting rare variants in case-parents association studies.
... frequencies in the ...multiple rare variants underlie susceptibility to such ...common variants is only modest ...of rare variants of major effect in common diseases and ...
A unified method for detecting secondary trait associations with rare variants: application to sequence data.
... of rare variant (RV) associations with quantitative traits ...many studies can only sequence a modest number of selected samples with extreme ...Therefore association testing in individual ...
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
... several rare mutations causing familial, early-onset FECD and rare variants associated with late-onset FECD have been identified [13,14,27,30,38–40,56,57], our current knowledge of the heritable ...
Utilizing mutual information for detecting rare and common variants associated with a categorical trait
... the association between multiple genetic variants and a categorical trait, which are intuitive and easily ...genetic variants is across all sites, not based on genotype patterns of each ...simulation ...
Blocking approach for identification of rare variants in family-based association studies.
... as case-control samples. Almost all the methods proposed in the literature for detecting rare variant associations, including those discussed above, are for case-control ...family ...
Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.
... for case-control studies using sequence data containing rare ...protective variants, which can mask the association signal from risk ...Early studies proposing pooling tests ...
A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation.
... tion in reported prevalence of NODAT in part reflects the varying clinical definitions of this ...disorder. In different clinical studies the NODAT phenotype has been defined by various crite- ...
Systemic sclerosis, a rare case
... a rare severe autoimmune disease involving the connective ...found in more than 90% of patients, but the diagnosis is made gathering clinical mani- festations, autoimmune panel, nailfold capil- laroscopy ...
Rare association between pernicious anemia and neurogenic bladder : a case report and literature review
... Laboratory tests at admission evidenced a macrocytic and normochromic anemia (Hb 8.26g/dL, MCV 121fL, MCH 45.2pg, MCHC 37.4g/dL), accentuated decreased vitamin B 12 levels (< 100 pg/mL), increased erythrocyte ...
Sao Paulo Med. J. vol.132 número4
... a well-defined, heterogeneous, ovoid mass with fat com- ponent and peripheral speckled calcifications, which mea- sured 5.3 × 4.6 × 6 cm, located at the upper pole of the right kidney (Figures 1A and 1B). ...
A Rare Case of Mucormycosis in the Scalp
... roles in successful treatment of patients with ...as in our case. In our case, despite the visual loss, deepening of invasion was prevented by the treatment of Amphotericin B, and the ...
Rev. Bras. Reumatol. vol.53 número6 en v53n6a13
... 1, in which the deformities are uncommon and there may not be i nal height ...observed in extremities are characteristic of JIA without adequate treatment ...observed in only 30% of ...
Challenges in whole exome sequencing: an example from hereditary deafness.
... intronic variants within these five autozygous ...shift variants (not reported in dbSNP132) in the five autozygous regions when we used a filter of minimum 86 read ...variant in the ...
Pulmonary Lymphangioleiomyomatosis: A Rare Case
... Macroscopically, the specimen from the let lower lobe was 4 x 2.5 x 1.5 cm and from the upper lobe was 4 x 1.8 x 1.5cm, both with cystic features on the cut surface (Figure 2). On microscopic examination, proliferating ...
CASE REPORT: Chorangiophagus Parasiticus: A Rare Case Report
... common in twin pregency compared to singleton pregnancy. One such rare anomaly is Chorangiophagus parasiticus also known as twin to twin transfusion which is an asymmetric abnormality of monozygotic twins, ...
SUBLINGUAL DERMOID CYST A RARE CASE – CASE REPORT
... fuses in midline. A small piece of epidermis may get entrapped deep in the mid line, during the mandibular processes from both sides fuses ...later in life may proliferate under some stimulus to form ...
Case studies in chemistry teacher education.
... Esta proposta consistiria em uma boa oportunidade para o li- cenciando testar as suas competências didáticas, sua capacidade de planejamento e levaria a uma sistemática do Ensi[r] ...
Cognitive manic symptoms in bipolar disorder associated with polymorphisms in the DAOA and COMT genes.
... implicated in the neurobiology of cognitive function, and there are genetic associations with functional COMT genotypes related to performance on the neuropsychological tests in bipolar disorder, ...
Cisto ósseo simples de mandíbula: um caso raro de ocorrência bilateral
... A 22-year-old male patient was refer- red by an orthodontist because of asymptoma- tic radiolucent areas on routine radiographs. The physical examination showed no bulging of the mandibular cortex, displa- cement, ...
A RARE CASE OF BILATERAL MICROSPHEREPHAKIA
... is rare bilateral congenital anamoly of the crystalline ...results in lenticular myopia, lens dislocation, usually inferiorly and inverse ...a case in a 8 year old child who presented with ...