Initial research on genetic heterogeneity was conducted using genetic linkage analyses, which map genetic loci of related ... Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. There ... Disorders on the Autism spectrum have high levels of genetic heterogeneity and result from multiple genetic pathways including ... Marked genetic heterogeneity is correlated to multiple levels of causation in many common human diseases including cystic ...
Next-generation sequencing has provided a snapshot of the genetic landscape of most cancer types, and cancer genomics ... Resolving genetic heterogeneity in cancer. *Samra Turajlic1,2 na1, *Andrea Sottoriva ORCID: orcid.org/0000-0001-6709-95333 na1 ... Turajlic, S., Sottoriva, A., Graham, T. et al. Resolving genetic heterogeneity in cancer. Nat Rev Genet 20, 404-416 (2019). ... High intratumor genetic heterogeneity is related to worse outcome in patients with head and neck squamous cell carcinoma. ...
Future human genetic studies, both with a focus on population and medical genetics, will have to consider differences in ... These observations, also corroborated by f3 migration statistics and other approaches, indicate genetic continuity of and ... we show that the Iranian population comprises distinct genetic variation with respect to populations in close geographic ... heterogeneity, consanguinity and degree of admixture between the ethnic groups for an adequate design and interpretation. ...
... expanding clinical and genetic spectrums of hypomyelinating disord … ... This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of patients in ... Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients PLoS One. 2018 Feb 16;13(2):e0188869 ... Significance: This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of ...
In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease ... presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic ... Genetic Heterogeneity. Subscribe to New Research on Genetic Heterogeneity The presence of apparently similar characters for ... In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease ...
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We provide a detailed discussion of genotype-phenotype correlations, recommendations for genetic diagnosis, and genetic ... we review clinical features and genetic diagnosis of diseases caused by mutations in the gene encoding valosin-containing ... Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic ... Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J. Med. Genet. 2013, 50, 776-783. [ ...
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. Qi Zhou,1 Chaeli Lenger,2 Richard Smith,2 ... The finding of mutation in MYO7A in these families provides evidence of genetic heterogeneity in Hutterites affected by Usher ... Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983; 101:1367-74. [PMID: 6604514] ... provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I. ...
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ...
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Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis ... Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis ... Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997; ... This observation indicates that the genetic background of ALS may differ between countries and regions. This could have ...
"There is a great deal of tumor heterogeneity in late stage cancer and identifying the individual clones and the genetic ... Genetic analysis of single circulating tumor cells shows high intra-patient heterogeneity.. ... "Successful treatment of cancer depends on understanding the heterogeneity of the patients tumor burden and the driving genetic ... Genetic material from each individual cell was sequenced and analyzed for genome wide copy number variation (CNV). The observed ...
Temporal heterogeneity and directional selection. Together they form a unique fingerprint. * Genetic Variation Medicine & Life ... Genetic variation in a heterogeneous environment. II. Temporal heterogeneity and directional selection. / Hedrick, P. W. In: ... Genetic variation in a heterogeneous environment. II. Temporal heterogeneity and directional selection. Genetics. 1976 Dec 1;84 ... Temporal heterogeneity and directional selection",. abstract = "The maintenance of genetic variation is investigated in a ...
Lifecycle of Hookworm cancer intratumor genetic heterogeneity Helminth infestation treatment Treatment for helminth ... of helminth treatment programmes hpv oropharyngeal cancer pictures Schistosomiasis cancer intratumor genetic heterogeneity ... Autoimmune Therapies breast cancer genetic mutations Se estimează că peste un miliard de persoane sunt purtători de Trichuris ...
Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity. In: Clinical ... These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset. ... These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.", ... These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset. ...
Heterogeneity in antisocial behaviours and comorbidity with depressed mood: a behavioural genetic approach. Journal of Child ... Heterogeneity in antisocial behaviours and comorbidity with depressed mood: a behavioural genetic approach ... were mediated by genetic and non-shared environmental influences. Genetic factors generally contributed more to the ... Conclusions: These results indicate that many genetic and non-shared envir- onmental influences were common to all the traits ...
Genetic heterogeneity in osteogenesis imperfecta.. D O Sillence, A Senn, D M Danks. Journal of Medical Genetics 1979 April ...
... Nigro, CL;Cusano, R;Gigli, GL;Forabosco, P; ... These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the ... These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the ... 2003). Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. AMERICAN JOURNAL OF MEDICAL GENETICS. ...
Moreover, we studied the genetic landscape of an ambiguous EC and the molecular profile obtained was used to guide the ... we sought to characterize the spatial and temporal heterogeneity of 9 different ECs using whole-exome sequencing, and by ... Analyzing different tumor regions by next generation sequencing allows the assessment of intratumor genetic heterogeneity (ITGH ...
... Author: Wolff, Markus; ... Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. DSpace Repository. Login ...
Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. E. Sobel*, E. Lange, N. G.J. Jaspers, L. Chessa, O. ... Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. / Sobel, E.; Lange, E.; Jaspers, N. G.J. et al. In: ... Ataxia-telangiectasia: Linkage evidence for genetic heterogeneity [4]. American Journal of Human Genetics. 1992;50(6):1343-1348 ... Ataxia-telangiectasia : Linkage evidence for genetic heterogeneity [4]. In: American Journal of Human Genetics. 1992 ; Vol. 50 ...
... a surrogate of tumor resilience but its quantification is confounded by genetic heterogeneity. Here we show that NGH can be ... serous OCComprehensive single-cell profiling of FTE cells identifies 6 molecular subtypesSubstantial non-genetic heterogeneity ... SummaryThe inter-differentiation between cell states promotes cancer cell survival under stress and fosters non-genetic ... The repertoire of serous ovarian cancer non-genetic heterogeneity revealed by single-cell sequencing of normal fallopian tube ...
Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ... Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. ... Adult, Aged, Anemia, Dyserythropoietic, Congenital, DNA Mutational Analysis, Female, Genetic Linkage, Glycoproteins, Humans, ...
Yun SM, Park SJ, Kim YI, Park SW, Yu MA, Kwon HI, et al. Genetic and pathogenic diversity of severe fever with thrombocytopenia ... 5 different genotypes are currently present and showed genetic heterogeneity in Myanmar. Moreover, we detected possible co- ... Genotypic Heterogeneity of Orientia tsutsugamushi in Scrub Typhus Patients and Thrombocytopenia Syndrome Co-infection, Myanmar ... Genotypic Heterogeneity of Orientia tsutsugamushi in Scrub Typhus Patients and Thrombocytopenia Syndrome Co-infection, Myanmar ...
Perrault syndrome: further evidence for genetic heterogeneity. / Jenkinson, Emma M.; Clayton-Smith, Jill; Mehta, Sarju et al. ... Perrault syndrome: further evidence for genetic heterogeneity. Emma M. Jenkinson, Jill Clayton-Smith, Sarju Mehta, Christopher ... Perrault syndrome: further evidence for genetic heterogeneity. In: Journal of Neurology. 2012 ; Vol. 259, No. 5. pp. 974-976. ... Perrault syndrome: further evidence for genetic heterogeneity. Journal of Neurology. 2012 May;259(5):974-976. doi: 10.1007/ ...
Heterogeneity tests based on individual genetic variants (e.g. Q, I2) are not suited to identifying locus-specific from more ... evaluated an aggregate heterogeneity M statistic that combines between-study heterogeneity information across multiple genetic ... Future meta-analyses of diseases and traits with multiple known genetic associations can use this approach to identify outlier ... ancestry or other variability that could introduce between-study heterogeneity into a meta-analysis. ...
Genetic testing identified 22 variants in BEST1. Conclusions and Relevance: These findings support the notion that ARB, BVMD, ... Objective: To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1. Design, ... Main Outcomes and Measures: Results of ocular phenotyping and genetic testing using targeted next-generation sequencing to ... Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. Shah M., Broadgate S., Shanks M., Clouston P ...
Preserving Genetic Heterogeneity". In Tilson, R. L.; Seal, U. S. (eds.). Tigers of the world: the biology, biopolitics, ... Before the studbook was established it was thought that this captive population was too small and lacking in genetic diversity ... including reduced genetic diversity and a low rate of successful breeding.[5] In 2007, the global captive population consisted ... a genetic study published in 2018 supported six monophyletic clades, with the South Chinese tiger being distinct from other ...
Genetic risk does partly explain the clinical heterogeneity of IA warranting prioritization of clinical heterogeneity in future ... Genetic risk does partly explain the clinical heterogeneity of IA warranting prioritization of clinical heterogeneity in future ... Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity. Mark K ... Methods: A genetic risk score incorporating genetic association data for IA and 17 traits related to IA (so-called metaGRS) was ...