Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Lequeue S et al.
Scientific Reports, 2022
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Spiga O et al.
Briefings in Bioinformatics, 2021
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Al-sbou M
Rheumatology International, 2012
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.
Magesh R et al.
Thescientificworldjournal, 2012
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A et al.
Jimd Reports, 2012
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Alkaptonuria in France: past experience and lessons for the future.
Aquaron RR
Journal of Inherited Metabolic Disease, 2011
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Abdulrazzaq YM et al.
Annals of Human Genetics, 2009
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E et al.
Journal of Medical Genetics, 2002
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Zatková A et al.
American Journal of Human Genetics, 2000
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000
Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population.
Ravnik-Glavac M et al.
Journal of Medical Genetics, 2000
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
Journal of Medical Genetics, 1999
Allelic heterogeneity of alkaptonuria in Central Europe.
Müller CR et al.
European Journal of Human Genetics : Ejhg, 1999
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Felbor U et al.
The British Journal of Ophthalmology, 1999
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1999
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1998
A novel point mutation associated with alkaptonuria.
Higashino K et al.
Clinical Genetics, 1998