Astrid S Plomp

Astrid S Plomp

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Astrid S Plomp

Astrid S Plomp

Publications by authors named "Astrid S Plomp"

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27Publications

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Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.

Mol Genet Genomic Med 2019 10 1;7(10):e00943. Epub 2019 Sep 1.

Department of Clinical Genetics, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785444PMC
October 2019

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Retina 2017 Jan;37(1):161-172

*Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands; †The Rotterdam Eye Hospital, Rotterdam, the Netherlands; ‡Rivas Zorggroep, Vianen, the Netherlands; §Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands; ¶The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, the Netherlands; and **Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000001127DOI Listing
January 2017

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

Invest Ophthalmol Vis Sci 2014 Nov 17;55(11):7355-60. Epub 2014 Nov 17.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.14-15317DOI Listing
November 2014

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.

Am J Med Genet A 2010 Apr;152A(4):1049-58

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam, the Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33329
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http://dx.doi.org/10.1002/ajmg.a.33329DOI Listing
April 2010

Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.

Genet Med 2009 Dec;11(12):852-8

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181c00a96
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http://dx.doi.org/10.1097/GIM.0b013e3181c00a96DOI Listing
December 2009

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Mol Vis 2008 Jan 24;14:118-24. Epub 2008 Jan 24.

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2254972PMC
January 2008

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

Mol Vis 2007 Oct 2;13:1851-5. Epub 2007 Oct 2.

Regensburg University Medical Center, Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics, Franz Josef Strauss, Regensburg, Germany.

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October 2007

L1 retrotransposition can occur early in human embryonic development.

Hum Mol Genet 2007 Jul 4;16(13):1587-92. Epub 2007 May 4.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddm108DOI Listing
July 2007

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

Am J Hum Genet 2007 Apr 16;80(4):805-10. Epub 2007 Feb 16.

Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1086/513207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852715PMC
April 2007

ABCC6 and pseudoxanthoma elasticum.

Pflugers Arch 2007 Feb 8;453(5):685-91. Epub 2006 Apr 8.

Department of Clinical and Molecular Ophthalmogenetics, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00424-005-0039-0DOI Listing
February 2007

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Am J Ophthalmol 2006 Apr;141(4):676-82

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ajo.2005.11.007DOI Listing
April 2006

Does autosomal dominant pseudoxanthoma elasticum exist?

Am J Med Genet A 2004 May;126A(4):403-12

The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20632DOI Listing
May 2004

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

Surv Ophthalmol 2003 Jul-Aug;48(4):424-38

Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/s0039-6257(03)00053-5DOI Listing
October 2003