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Relevant bibliographies by topics / Clinicogenetic correlations

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Academic literature on the topic 'Clinicogenetic correlations'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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Journal articles on the topic "Clinicogenetic correlations"

1

Magrinelli, Francesca, Bettina Balint, and Kailash P. Bhatia. "Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes." Movement Disorders Clinical Practice 8, no. 3 (2021): 299–310. http://dx.doi.org/10.1002/mdc3.13165.

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Gannamani, Rahul, Sterre Veen, Martje Egmond, Tom J. Koning, and Marina A. J. Tijssen. "Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes." Movement Disorders Clinical Practice 8, no. 3 (2021): 311–21. http://dx.doi.org/10.1002/mdc3.13163.

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Bottos, Alessia, Corinna Woestmann, Christopher R. Bolen, et al. "Identification of High-Risk Population in First-Line Follicular Lymphoma at Screening with a Next Generation Sequencing (NGS) Assay Using Plasma Circulating Tumor DNA (ctDNA): Initial Data from Gallium." Blood 142, Supplement 1 (2023): 1629. http://dx.doi.org/10.1182/blood-2023-181723.

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Background Follicular lymphoma (FL) is an indolent disease with favorable outcome in patients (pt) treated with antibody-based immunochemotherapy. However, ca. 15% of the pt population experience disease relapse within 24 months or transformation to a more aggressive disease, representing a population with high unmet medical need. Available clinicogenetic risk scores show suboptimal performance for predicting early disease progression (Jurinovic, Blood 2016). Here we evaluated ctDNA at screening as a novel tool to identify high risk pt populations. Material and Methods Pre-treatment plasma sam

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Kadoba, K., R. Watanabe, T. Iwasaki, et al. "POS0345 CLINICOGENETIC STUDY OF FIVE NOVEL SUSCEPTIBILITY LOCI FOR TAKAYASU ARTERITIS: SUSCEPTIBILITY LOCI IN THE IL12B AND PTK2B REGION, BUT NOT THE LILRA3, DUSP22, KLHL33 REGIONS, ARE ASSOCIATED WITH VASCULAR DAMAGE IN TAKAYASU ARTERITIS." Annals of the Rheumatic Diseases 80, Suppl 1 (2021): 401.2–402. http://dx.doi.org/10.1136/annrheumdis-2021-eular.289.

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Background:We have previously identified single nucleotide polymorphism (SNP) rs6871626 in IL12B, rs103294 in LILRA3, rs17133698 in DUSP22, rs2322599 in PTK2B, and rs1713450 in KLHL33 as non-HLA susceptibility loci in Takayasu arteritis (TAK) [1, 2]. However, the association of these SNPs with clinical features has scarcely investigated.Objectives:In this study, we aimed to examine how these SNPs contribute to clinical features and vascular damage in TAK.Methods:We enrolled 99 TAK patients who were enrolled in our previous genome-wide association study (GWAS) [2]. To assess vascular damage, Ta

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Fussiger, Helena, Pedro Lucas G. S. B. Lima, Paulo V. S. Souza, et al. "Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil." Clinical Genetics, August 5, 2024. http://dx.doi.org/10.1111/cge.14602.

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AbstractThere are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We describe a multicenter Brazilian cohort of patients with CTX highlighting their clinical phenotype, recurrent variants and assessing possible genotype–phenotype correlations. We analyzed data from all patients with clinical and molecular or biochemical diagnosis of CTX regularly followed at six genetics reference centers in Brazil between March 2020 and August 2023. We evaluated 38 CTX patients from 26 families, originating from 4 diffe

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Biglari, Sajjad, Mohammad Shahrooei, Fatemeh Vahidnezhad, et al. "Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation." Journal of Medical Genetics, March 18, 2025, jmg—2024–110606. https://doi.org/10.1136/jmg-2024-110606.

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BackgroundSLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit further genetic and clinical research. We investigated the clinical and genetic aspects of patients with SLC29A3-RS.MethodsSix pathogenic variants of theSLC29A3gene were identified in eight families in the current study. RNA sequencing was used for evaluatingSLC29A3variant gene expression and protein stability by molecular dynamics (MD) simulations. This study conducted a Preferred Reporting Items for

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Dissertations / Theses on the topic "Clinicogenetic correlations"

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Francesca, Magrinelli. "CLINICOGENETIC CORRELATIONS IN RARE COMPLEX MOVEMENT DISORDERS Focus on combined and complex dystonia phenotypes." Doctoral thesis, 2021. http://hdl.handle.net/11562/1052757.

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Movement disorders is relatively unique among neurology subspecialties in its reliance on clinical judgement to accurately define disease phenotypes which are often complex. Progress in genetics – particularly the advent of next-generation sequencing (NGS) – has enabled an unparalleled gene discovery and revealed unmatched intricacy of genotype-phenotype correlations in the field of movement disorders and neurodegeneration. “Deep phenotyping”, with detailed characterization and continual updating of movement disorder phenotypes, and the active involvement of movement disorder specialists in th

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