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Astrid Plomp

Explore the profile of Astrid Plomp including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 11
Citations 400
Followers 0
Related Specialties
Genetics
Ophthalmology
Top 10 Co-Authors
Elfride De Baere
Bart P Leroy
Arthur A B Bergen
Anne De Paepe
Xiaofeng Hu
Francoise Meire
Paulus T V M de Jong
Jacoline Ten Brink
Marc Fellous
Sarah De Jaegere
Published In
Hum Mutat
Invest Ophthalmol Vis Sci
Am J Hum Genet
Genet Test
Eur J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
Colbert B, Lanting C, Smeal M, Blanton S, Dykxhoorn D, Tang P, et al.
Hum Genet . 2024 May; 143(5):721-734. PMID: 38691166
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective...
2.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof J, Rastin C, Levy M, Relator R, McConkey H, Demain L, et al.
Genet Med . 2024 Jan; 26(5):101075. PMID: 38251460
Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical...
3.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Maas S, Shaw A, Bikker H, Ludecke H, van der Tuin K, Badura-Stronka M, et al.
Eur J Med Genet . 2015 Mar; 58(5):279-92. PMID: 25792522
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting...
4.
ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report
Jansen R, Duijst S, Mahakena S, Sommer D, Szeri F, Varadi A, et al.
Arterioscler Thromb Vasc Biol . 2014 Jun; 34(9):1985-9. PMID: 24969777
Objective: Mutations in ABCC6 underlie the ectopic mineralization disorder pseudoxanthoma elasticum (PXE) and some forms of generalized arterial calcification of infancy, both of which affect the cardiovascular system. Using cultured...
5.
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, et al.
Hum Mutat . 2011 Sep; 32(12):1398-406. PMID: 21882291
Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a...
6.
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
Dhaene B, Meire F, Claerhout I, Kroes H, Plomp A, Arens Y, et al.
Invest Ophthalmol Vis Sci . 2010 Oct; 52(1):324-33. PMID: 20881294
Purpose: Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was...
7.
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, et al.
Hum Mutat . 2008 Jul; 29(11):E205-19. PMID: 18642388
Blepharophimosis syndrome (BPES) is caused by loss-of-function mutations in the single-exon forkhead transcription factor gene FOXL2 and by genomic rearrangements of the FOXL2 locus. Here, we focus on 92 new...
8.
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum
Hu X, Plomp A, Gorgels T, Ten Brink J, Loves W, Mannens M, et al.
Genet Test . 2005 Feb; 8(3):292-300. PMID: 15727254
Pseudoxanthoma elasticum (PXE) is a hereditary disorder of connective tissue with skin, cardiovascular, and visual involvement. In familial cases, PXE usually segregates in an autosomal recessive fashion. The aim of...
9.
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum
Hu X, Peek R, Plomp A, ten Brink J, Scheffer G, van Soest S, et al.
Invest Ophthalmol Vis Sci . 2003 Apr; 44(5):1824-9. PMID: 12714611
Purpose: To characterize the ABCC6 R1141X nonsense mutation, which is implicated in more than 25% of a cohort of patients from The Netherlands with pseudoxanthoma elasticum (PXE). Methods: A combination...
10.
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born L, et al.
Eur J Hum Genet . 2003 Apr; 11(3):215-24. PMID: 12673275
Pseudoxanthoma elasticum (PXE) is a hereditary disease characterized by progressive dystrophic mineralization of the elastic fibres. PXE patients frequently present with skin lesions and visual acuity loss. Recently, we and...