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Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate

British journal of dermatology (1951), 2020-08, Vol.183 (2), p.367-372

2020

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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Journal of human genetics, 2010-02, Vol.55 (2), p.112-117

2010

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Cellular signaling in pseudoxanthoma elasticum: an update

Cellular signalling, 2019-03, Vol.55, p.119-129

2019

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The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum

Frontiers in pharmacology, 2022-03, Vol.13, p.822143-822143

2022

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Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish

Journal of investigative dermatology, 2018-11, Vol.138 (11), p.2333-2342

2018

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Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Journal of medical genetics, 2007-10, Vol.44 (10), p.621-628

2007

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Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

International Journal of Pediatrics, 2013-01, Vol.2013 (2013), p.4-11

2013

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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Journal of human genetics, 2010-02, Vol.55 (2), p.112-117

2010

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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Human mutation, 2012-10, Vol.33 (10), p.1485-1493

2012

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PP13.9 – 2836: Variants in the NR3C2 gene as possible genetic predisposition for the development of multiple sclerosis

European journal of paediatric neurology, 2015-05, Vol.19, p.S84-S84

2015

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Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

British journal of radiology, 2006-03, Vol.79 (939), p.221-225

2006

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Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

Eye (London), 2012-05, Vol.26 (5), p.753-755

2012

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Nature genetics, 2015-06, Vol.47 (6), p.579-581

2015

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Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Frontiers in cardiovascular medicine, 2019-01, Vol.5, p.196

2019

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Primaire ectopische mineralisatieaandoeningen: van (vaat)verkalking tot syndroom

Tijdschrift voor geneeskunde, 2020-12

2020

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290 Nonlinear microscopy for the visualization of calcification and assessment of connective tissue fibers in pseudoxanthoma elasticum

Journal of investigative dermatology, 2019-09, Vol.139 (9), p.S264-S264

2019

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A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)

Atherosclerosis, 2018-10, Vol.277, p.369-376

2018

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Syndrome sclérodermiforme monomélique au cours d’un syndrome de Buschke Ollendorff

Annales de dermatologie et de vénéréologie, 2014-12, Vol.141 (12), p.S379-S379

2014

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59. PREIMPLANTATION GENETIC TESTING FOR HERITABLE CONNECTIVE TISSUE DISEASES

Reproductive biomedicine online, 2019-08, Vol.39, p.e62-e63

2019

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Acral acquired cutis laxa associated with IgA multiple myeloma, joint hyperlaxity and urticarial neutrophilic dermatosis

Acta dermato-venereologica, 2014-11, Vol.94 (6), p.743-744

2014

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Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

British journal of ophthalmology, 2010-04, Vol.94 (4), p.479-486

2010

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Aspect de cutis laxa acquise : penser au pseudoxanthome élastique variant avec TP bas

Annales de dermatologie et de vénéréologie, 2017-12, Vol.144 (12), p.S251-S252

2017

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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

Journal of bone and mineral research, 2013-05, Vol.28 (5), p.1041-1049

2013

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Unusual Presentation of Combined Saggital-Metopic Synostosis May Represent a Novel Autosomal Dominant Craniosynostosis Syndrome

Pediatric research, 2011-11, Vol.70 (Suppl 5), p.413-413

2011

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Pseudoxanthome élastique (PXE) associé à un digénisme ABCC6/GCCX

Annales de dermatologie et de vénéréologie, 2014-12, Vol.141 (12), p.S368-S368

2014

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Severe early‐onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Cellular signaling in pseudoxanthoma elasticum: an update

The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum

Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

PP13.9 – 2836: Variants in the NR3C2 gene as possible genetic predisposition for the development of multiple sclerosis

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet

Primaire ectopische mineralisatieaandoeningen: van (vaat)verkalking tot syndroom

290 Nonlinear microscopy for the visualization of calcification and assessment of connective tissue fibers in pseudoxanthoma elasticum

A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)

Syndrome sclérodermiforme monomélique au cours d’un syndrome de Buschke Ollendorff

59. PREIMPLANTATION GENETIC TESTING FOR HERITABLE CONNECTIVE TISSUE DISEASES

Acral acquired cutis laxa associated with IgA multiple myeloma, joint hyperlaxity and urticarial neutrophilic dermatosis

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

Aspect de cutis laxa acquise : penser au pseudoxanthome élastique variant avec TP bas

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

Unusual Presentation of Combined Saggital-Metopic Synostosis May Represent a Novel Autosomal Dominant Craniosynostosis Syndrome

Pseudoxanthome élastique (PXE) associé à un digénisme ABCC6/GCCX

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