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.
Results
Showing 1 to 18 of 18 for “"genotype-phenotype-correlation"”.
-
Familial adenomatous polyposis: a genotype - phenotype correlation
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).
-
VON WILLEBRAND DISEASE: NEW INSIGHTS INTO THE EPIDEMIOLOGY, PATHOPHYSIOLOGY AND GENOTYPE/PHENOTYPE CORRELATION
La malattia di von Willebrand (VWD) è il disturbo emorragico congenito più comune ed è dovuta a difetti quantitativi (VWD di tipo 1 e di tipo 3) o qualitativi (VWD di tipo 2) della glicoproteina fattore di von Willebrand (VWF). Questa tesi mirava a fornire nuove informazioni sull'epidemiologia, …
-
Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected …
-
SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS
… of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. Limitations: Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Conclusion: Syndromic HS can be considered as a polygenic autoinflammatory condition; currently …
-
Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза
Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза Genotype-phenotype correlations in patients with cystic fibrosis have been interesting since the end of the 20th century. Still, the present thesis is the first research on …
-
Population-based genotype-phenotype correlation to stratify incident cases of motor neurone disease in Scotland from 2015-2017
… Neurology Tissue Bank. Two cohorts were genotyped: i) a pilot cohort of patients diagnosed 1989-2014 who were studied using a limited six-gene panel and ii) an incident cohort of patients diagnosed 2015-17 who were genotyped using an extended 49 gene panel. Genotype-phenotype correlations …
-
Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
… and their associated phenotypic heterogeneity, a genotype-phenotype model has been proposed based on the amount of ABCA4 protein activity. Research in the Division of Human Genetics at the University of Cape Town (UCT) has suggested possible ABCA4 founder mutations underlying STGD in the South …
-
Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia
… in literature along with a detailed clinical phenotype and genotype/phenotype correlation. The highest prevalence is registered in Sardinia, Turkey and Spain. In Sardinia the evaluation of the allele frequency for two out of the three founder mutations estimated a carrier frequency of 1,4% …
-
Modelling and investigating treatments of childhood inherited mitochondrial diseases in zebrafish.
… defect, helping to strengthen the disease genotype-phenotype correlation and highlight the neuromuscular junction as feature of mitochondrial disease.
-
Exploring Pain Neurobiology: Molecular Investigation of Genetic Sensory Disorders
… interactome. Lastly, we uncovered a surprising genotype-phenotype correlation in another CIP gene, *PRDM12*. Unlike other loss-of-function mutations in this gene that cause global, lifelong painlessness, homozygous polyalanine expansions within a discrete range lead to facially-localised, …
-
MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES
… of new RSTS and RTT genes could expand the genotype-phenotype correlation for these chromatinopathies, and characterization of new candidate genes could give insights into pathogenesis of these disorders.
-
Investigation into the Molecular Biology of Human Genetic Sensory Disorders of Painlessness and Itch
… in *CMAS* in three unrelated families with CIP phenotypes, hence supporting *CMAS* as a strong candidate gene causing congenital insensitivity to pain. This work aims to explore the role of *CMAS* in pain pathways and the mechanism linking *CMAS* c.92C>T mutation to painless phenotypes. However, …
-
Early life phenotypes of type 1 diabetes genetic risk
… over the first 2 years of life, I conducted genotype-phenotype correlation analyses with the objective of identifying T1D susceptibility single nucleotide polymorphisms (SNPs) and candidate genes that influence the archetypal phenotypes of the disease prodrome, which starts early in life, as …
-
Molecular genetic investigation of the variability of the GTPase activating protein- (GAP-) related domain of the tuberous sclerosis-2 (TSC2) gene in TSC patients and healthy subjects
… of TSC further complicate the quest for genotype-phenotype correlation. If the structure and function of the protein products were clearly established, then the consequence of the great number of mutations found thus far would be known. In order to lend some context to the mutations in …
-
Molekulare Charakterisierung des PKHD1-Gens und seines Proteins Polyductin bei autosomal rezessiver polyzystischer Nierenerkrankung
… called polyductin/ fibrocystin. A genotype-phenotype-correlation exists, that implicates that no patient carrying two truncating mutations survives the peri-/neonatal period. So at least one missense mutation is indispensable for survival of newborns. Within this doctoral thesis …
-
Integrated approaches to elucidate the genetic architecture of congenital heart defects
… locus heterogeneity and the lack of a distinct genotype–phenotype correlation. Currently, genetic causes are identified in fewer than 20-‐30% of the cases, most of which are syndromic while the isolated CHD cases remain largely without explanation. The aim of my thesis was to identify novel or …
-
PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)
… and a great number of compound heterozygotes a correlation between genotype and phenotype is hard to establish. This study attempted for the first time to link all known recurrent mutations to date to four different clinical courses.