Cargando…

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guide...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tamana, Stella, Xenophontos, Maria, Minaidou, Anna, Stephanou, Coralea, Harteveld, Cornelis L, Bento, Celeste, Traeger-Synodinos, Joanne, Fylaktou, Irene, Yasin, Norafiza Mohd, Abdul Hamid, Faidatul Syazlin, Esa, Ezalia, Halim-Fikri, Hashim, Zilfalil, Bin Alwi, Kakouri, Andrea C, Kleanthous, Marina, Kountouris, Petros
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2022
Materias:	Computational and Systems Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9731569/ https://www.ncbi.nlm.nih.gov/pubmed/36453528 http://dx.doi.org/10.7554/eLife.79713

Ejemplares similares

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies
por: Minaidou, Anna, et al.
Publicado: (2022)

Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies
por: Stephanou, Coralea, et al.
Publicado: (2019)

P128: ITHANET: AN INFORMATION AND DATABASE COMMUNITY PORTAL FOR HAEMOGLOBINOPATHIES
por: Minaidou, A, et al.
Publicado: (2022)

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies
por: Xenophontos, Maria, et al.
Publicado: (2023)

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
por: Kountouris, Petros, et al.
Publicado: (2021)

P117: THE INTERNATIONAL HAEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HAEMOGLOBINOPATHIES
por: Kountouris, P, et al.
Publicado: (2022)

Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
por: Filser, Mathilde, et al.
Publicado: (2022)

Characterization of New Alpha Zero (α(0)) Thalassaemia Deletion (−−(GB)) among Malays in Malaysian Population
por: Yasin, Norafiza Mohd, et al.
Publicado: (2023)

HBB mutations and HbA2 level: Escaping the carrier screening programs
por: Sharifi, Ameneh, et al.
Publicado: (2020)

PB2515: A PILOT STUDY OF THE INTERNATIONAL HEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT)
por: Kountouris, Petros, et al.
Publicado: (2023)

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
por: Traeger-Synodinos, Joanne, et al.
Publicado: (2015)

Clinical and haematological characteristics of 38 individuals with Hb G‐Makassar in Malaysia
por: Esa, Ezalia, et al.
Publicado: (2023)

Molecular and hematological studies in a cohort of beta zero South East Asia deletion (β°-thal SEA) from Malaysian perspective
por: Yasin, Norafiza Mohd, et al.
Publicado: (2022)

Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus
por: Kountouris, Petros, et al.
Publicado: (2020)

Heterozygosity of the Complex Corfu δ(0)β(+) Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
por: Kattamis, Christos, et al.
Publicado: (2022)

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL
por: Coralea Stephanou, C, et al.
Publicado: (2022)

Editorial: Insights in thalassemia: from genomics to clinical practice
por: Silao, Catherine Lynn T., et al.
Publicado: (2023)

Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia
por: Hassan, Syahzuwan, et al.
Publicado: (2023)

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study
por: Kountouris, Petros, et al.
Publicado: (2016)

Measurement of HbA(1c) and HbA(2) by Capillarys 2 Flex Piercing HbA(1c) programme for simultaneous management of diabetes and screening for thalassemia
por: Ke, Peifeng, et al.
Publicado: (2017)

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries
por: Halim-Fikri, Bin Hashim, et al.
Publicado: (2022)

Standardization of the HbA(2) Assay
por: Paleari, Renata, et al.
Publicado: (2018)

Haemoglobinopathies in Southeast Asia
por: Fucharoen, Suthat, et al.
Publicado: (2011)

HbA(1c): The lower the better?
por: Araki, Eiichi, et al.
Publicado: (2011)

The True Value of HbA1c as a Predictor of Diabetic Complications: Simulations of HbA1c Variables
por: Lind, Marcus, et al.
Publicado: (2009)

Haemoglobin J-Baltimore can be detected by HbA(1c) electropherogram but with underestimated HbA(1c) value
por: Brunel, Valéry, et al.
Publicado: (2016)

Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population
por: Aziz, Nur-Aisyah, et al.
Publicado: (2021)

GUIDELINES FOR THE DIAGNOSIS OF THE HAEMOGLOBINOPATHIES IN NIGERIA
por: Kotila, Taiwo R.
Publicado: (2010)

Haemoglobinopathies in tribal populations of India
por: Ghosh, Kanjaksha, et al.
Publicado: (2015)

Prenatal Diagnosis and Screening of the Haemoglobinopathies
por: Cao, Antonio, et al.
Publicado: (1999)

Multidisciplinary Care of Haemoglobinopathies in Qatar
Publicado: (2018)

Influence of Serum Albumin on HbA1c and HbA1c-Defined Glycemic Status: A Retrospective Study
por: Feng, Xiaojing, et al.
Publicado: (2021)

First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE)
por: Mandrile, Giorgia, et al.
Publicado: (2022)

Drugs affecting HbA1c levels
por: Unnikrishnan, Ranjit, et al.
Publicado: (2012)

Current Status of HbA1c Biosensors
por: Lin, Hua, et al.
Publicado: (2017)

Hemoglobin variants detected by hemoglobin A1c (HbA1c) analysis and the effects on HbA1c measurements
por: Nasir, Nadzimah Mohd, et al.
Publicado: (2010)

In-House Algorithm for Reporting Discrepant HbA1c Result and Troubleshooting a Case of False Low HbA1c
por: Pant, Vivek, et al.
Publicado: (2021)

Estimation of mean erythrocyte age using HbA1c or HbA1c/glycated albumin for evaluation of anemia severity
por: Koga, Masafumi, et al.
Publicado: (2023)

Good Clinical Practice of the Italian Society of Thalassemia and Haemoglobinopathies (SITE) for the Management of Endocrine Complications in Patients with Haemoglobinopathies
por: Casale, Maddalena, et al.
Publicado: (2022)

Corpuscular Haemolytic Anaemias - Lepore Haemoglobinopathy
por: TUDORASCU, IULIA, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_n90i63puet190r2ee2hjshn6so