Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 57 for “"probands"”.
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The utility of the 1994 versus the revised 2010 Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Task Force diagnostic criteria for identifying mutation-positive probands with ARVC
… both TFC for the diagnosis of mutation-positive probands in the IMHOTEP (The African Cardiomyopathy and Myocarditis Registry Program) study with the aim of identifying diagnostic changes that may have clinical impact. Method: 162 participants with the suspicion of ARVC were referred between May …
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The neuropsychological endophenotype of specific language impairments and autism spectrum disorders: Category or continuum?
… review.</p> <p>Cognitive data revealed that ASD probands performed more poorly on tests of perceptual-motor functioning and had higher rates of pragmatic language deficits than SLI probands. In addition, ASD probands had higher rates of pragmatic speech problems than SLI probands.</p> <p>Proband …
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Common genetic variation and spliceosome variants in rare developmental disorders
… inherited, putatively damaging variants in NDD probands in the Deciphering Developmental Disorders (DDD) Study. To determine whether there were overall differences in predicted gene expression between probands and controls, I conducted a Transcriptome Association Study. I then tested whether the …
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Targeted re-sequencing of a large South African cardiomyopathy cohort
… Result: We recruited 690 cardiomyopathy probands (594 adults and 96 paediatrics). The 594 adults include dilated cardiomyopathy (n=450), hypertrophic cardiomyopathy (n=60), restrictive cardiomyopathy (n=43) and arrhythmogenic cardiomyopathy (n=41) probands. The adult DCMs constituted …
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Genetic Counselors' Approaches to Direct-To-Consumer Genetic Testing For Hereditary Breast Cancer
… GCs make for confirmatory genetic testing in probands who have already obtained DTC-GT results or TPI data that reported a <em>BRCA1/2 </em>pathogenic variant. We recruited 80 GCs specializing in hereditary cancer and administered a survey that assessed their testing strategy for probands from …
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Family Studies of Sensorimotor Disturbances in Autism Spectrum Disorder
… that are present in both individuals with ASD (probands) and their unaffected biological family members. Previous studies have identified reduced saccade accuracy and increased variability of saccade in probands as well as analogous deficits in unaffected relatives. We also have recently …
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Genealogical tracing of founder variants linked to cardiomyopathies in a South African cohort
… trace the origins of these variants in the probands and their families. Methods: Participants were recruited from South African tertiary hospitals, with baseline data recorded at enrolment. Next generation sequencing identified several probands with possible founder variants which prompted …
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Vliv virtuální reality na stabilizační funkce pacientů po cévní mozkové příhodě s neglect syndromem
… reality exposure in comparison with healthy probands and patients after cerebrovascular accident without neglect syndrome. Methods: 28 probands took part in this research, specifically 10 patients after cerebrovascular accident with neglect syndrome, 6 patients after cerebrovascular accident …
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Herzschlaglängenfolgen während Taktatmung als Marker der kardiorespiratorischen Innervation
… 8f) and 14 old (58 ± 10 years, 7m, 7f) healthy probands underwent 24h-holter-monitoring and a paced breathing protocol. 16 consecutive patients (47 ± 19 years, 4m, 12f) underwent 24h-holter-monitoring and the same paced breathing protocol before and after AVNM. In H, ultra-low (ULF), very-low …
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Evaluation of Recurrence Risks For Left-Sided Cardiac Lesions
… Utilizing family history data from 757 probands recruited between 1997 and 2007 from The Children’s Hospital of Philadelphia, this study reassessed the pre/recurrence risks for LSLs specifically. Sibling pre/recurrence risks for HLHS (5.5%, 95% CI: 3.1%-8.9%), CoA (4.0%, 95% CI: …
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Valutazione del rischio genetico di comportamento suicidario nel disturbo bipolare: analisi di 737 pedigrees
… suicides was analyzed in 737 families of probands with MAD with 4,919 first-degree relatives (affected and unaffected). Cox proportional hazard regression models and logistic regression models were used to investigate the role of several clinical covariates on the risk of MAD, BD and …
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Malignant melanoma-Risk factors and the CDKN2A mutation in relation to phenotypes and other cancers.
… Tumours associated with CMM, in individuals/probands with four or more primary tumours including at least one CMM were genotyped. The probands were further sub-grouped according to subsequent cancers (Paper I). Possible similarities in tumour patterns were studied in their close relatives …
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The development and preliminary evaluation of a self-administered screening instrument for first rank symptoms and basic symptoms in psychotic and non psychotic disorders
… comprised two groups of 51 psychiatric patients (probands) and 50 healthy controls. The probands were diagnosed through the administration of the Diagnostic Interview for Psychosis (DIP; Commonwealth Department of Health and Family Services, in press) and grouped by the Operational Criteria for …
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Hodnocení úrovně posturální stability u sportovců v rekondiční fázi po zranění kolene
… topic was elaborated. A suitable sample of probands was selected. This is a longitudinal follow-up with repeated measurements during the reconditioning phase. Each proband underwent a series of testing at different time points after surgery, both in the early and more advanced stages of …
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Delineation of the genetic causes of complex epilepsies in South African pediatric patients
… DEE, were recruited between 2016 and 2019. All probands were genetically tested using a DEE gene panel of 71 genes. Of the panel-negative probands, 78 were tested with chromosomal microarray and 20 proband/parent trios underwent exome sequencing. Statistical comparison of electroclinical …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… was designed to screen for this mutation in probands with different IRDs (n=170) and controls (n=51), and haplotype analysis was performed on mutation-positive individuals. The registry review additionally served to identify a suitable cohort for the application of next generation sequencing …
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Auswirkung von körperlicher Belastung auf die Konzentration von 3-Nitrotyrosin im Atemkondensat
… This study claims to improve this matter. 20 probands (aged 20-35 years, equally male and female genders) were examined due to the changes of 3-nitrotyrosine concentration in exhaled breath condensate (EBC) caused by physical exercise testing. They were separated in 10 atopic and 10 non-atopic …
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Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy
… the PARVA gene for mutations in a large panel of probands with ARVC and other cardiomyopathies and to validate the whole exome sequencing results obtained in the UK on a different sequencing platform. Methods and Results: We investigated the ACM 8 family with three affected individuals (two …
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A comparative cost analysis of two screening strategies for colorectal cancer in Lynch Syndrome in a tertiary hospital, South Africa
… using a micro-costing, ingredient approach. Probands that were selected, according to the Revised Bethesda Criteria, for genetic testing between 01 November 2014 and 30 October 2015, and their first degree relatives (high risk relatives) were evaluated according to Strategy 1 and Strategy 2. …
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… been reported to occur within four 'unrelated' probands (6.2%) who selfidentified as Afrikaners and who also carried a common haplotype. Common evolutionary history suggests common haplotypes are linked to a common founder and today the Afrikaner populations are a unique ethnic group in South …
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