Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.
Haverkamp M et al.
The Journal of Investigative Dermatology, 2025
Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.
Bertamino M et al.
Orphanet Journal of Rare Diseases, 2025
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.
Rosales-Padron J et al.
Ophthalmic Genetics, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1.
Pfau K et al.
Investigative Ophthalmology & Visual Science, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Pseudoxanthoma elasticum, a difficult diagnostic in patient with dark skin.
Fassanaro C et al.
Skin Health and Disease, 2024
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
Mishra AV et al.
Ophthalmic Genetics, 2024
Genetic variants identified in novel candidate genes for anorexia nervosa and analysis of molecular pathways for diagnostic applications.
Donato K et al.
European Review for Medical and Pharmacological Sciences, 2023
Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.
Kozák E et al.
Journal of Clinical Medicine, 2023
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Szeri F et al.
Human Mutation, 2022
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke.
Bruno G et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2021
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum.
Murro V et al.
American Journal of Ophthalmology, 2021
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.
Verschuere S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
From membrane to mineralization: the curious case of the ABCC6 transporter.
Verschuere S et al.
Febs Letters, 2020
Pattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.
Lévy E et al.
Clinical Immunology (orlando, Fla.), 2016
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.
Hosen MJ et al.
The Journal of Investigative Dermatology, 2015
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
Boraldi F et al.
Molecular Genetics and Metabolism Reports, 2014
[White matter lesions leading to the diagnosis of pseudoxanthoma elasticum].
Dalloz MA et al.
Revue Neurologique, 2010
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
Costrop LM et al.
Journal of Human Genetics, 2010
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.
Vanakker OM et al.
Human Mutation, 2008
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG et al.
Journal of Medical Genetics, 2007
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Schulz V et al.
Human Mutation, 2006
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
Chassaing N et al.
Journal of Medical Genetics, 2005
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S et al.
Human Mutation, 2005
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D et al.
Human Mutation, 2004
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N et al.
The Journal of Investigative Dermatology, 2004
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
Molecular genetics of pseudoxanthoma elasticum.
Ringpfeil F et al.
Experimental Dermatology, 2001