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Showing 1 to 14 of 14 for “"carrier screening"”.
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Perceived Utility of Genetic Carrier Screening In A Diverse Patient Population
<p>Carrier screening assesses whether an individual may carry variants in select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to …
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The Influence of Scientific, Genetic, and Health Literacy on Carrier Screening Decision-Making
… decisions in their reproductive planning, carrier screening for autosomal recessive and X-linked conditions, as well as cell-free DNA (cfDNA) screening for aneuploidy, are recommended during pregnancy. Despite similarities in purpose, sample requirements, insurance coverage, and safety, a …
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Factors That Impact Uptake of Carrier Screening By Male Reproductive Partners of Female Prenatal Patients
<p>Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous …
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Implementation of Genetic Carrier Screening In The Ob Population: Healthcare Cost Impact and Recommendation Adherence
… genetic testing. In this study, the ordering of carrier screening by obstetricians and genetic counselors was used to determine if duplicate genetic testing was taking place at a large academic institution along with adherence to ACOG and ACMG carrier screening guidelines.</p> …
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SICKLE CELL CARRIER SCREENING FOR ADOLESCENTS IN SAUDI ARABIA: A MIXED-METHODS APPROACH TO UNDERSTANDING SOCIETAL ACCEPTANCE
… two parents carry the abnormal gene. However, carriers are typically asymptomatic, so most do not know their carrier status, which poses potentially serious health implications for future children. A possible preventive measure is early carrier screening for adolescents to help families arrange …
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Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia
… out of the three founder mutations estimated a carrier frequency of 1,4% with an incidence of about 1 case per 20,700 newborns.
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Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)
… analysis, offer genetic counselling, (3) do carrier screening tests on the families studied, and (4) to try and find a genotype/phenotype relationship in the gamma chain gene.
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The basis of racial classification: Ancestry-informative marker versus social context
… AIMs from 9,138 clinical subjects referred to carrier screening from patients undergoing genetic carrier screening. Binary Logistic Regression and cross-tabulation analyses were utilized to test the theoretical framework and hypotheses. The results show that there is a relationship between AIMs …
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Study of Type-I and Type-Ii Strained Quantum -Well Lasers
… model for the band structure with carrier population is used in the calculation of the optical gain. We find that a sufficient gain can be achieved for lasing action with these type-II QW lasers due to the free-carrier screening effect. For a broken-gap type-II QW structure, the …
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Neutron and x-ray scattering studies of layered solids
… in the [001] direction is quenched by free carrier screening in the stage 1 binary CsC8. The x-ray scattering results involve two types of systems: GaAs grown on Si and Ge substrates and terraced superlattices. First, we show that the polar semicondoctor GaAs can be grown free from antiphase …
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Heterozygote detection and genetic analysis of serum amino acid metabolism in Amish and non-Amish families with a phenylketonuric proband
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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OPTICAL CHARACTERIZATION OF WIDE ENERGY AGP GROUP III-NITRIDE SEMICONDUCTORS
… n-GaN free excitons were found to be quenched by carrier screening due to the heavily n-type doping. For InGaN/GaN MQWs, phase sensitive characteristics of PV spectra were adopted to identify the complex PV spectra and findings. Photoreflectance (PR) and contactless electroreflectance (CER) were …
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Prenatal Screening Decision-Making Facilitated Through An Online Patient Education Module
<p>As recommendations for prenatal genetic screening are expanded to include patients with pregnancies at low risk for aneuploidy, there is a need to develop accessible mechanisms to promote informed decision-making about genetic screening. The use of patient decision aids has been shown to promote …