Publications by authors named "Rowdy Meijer"

22Publications

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Mol Ther Nucleic Acids 2019 Dec 19;18:465-475. Epub 2019 Sep 19.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1016/j.omtn.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831832PMC
December 2019

ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.

Int J Dermatol 2019 Mar 17;58(3):e72-e75. Epub 2019 Jan 17.

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

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http://dx.doi.org/10.1111/ijd.14359DOI Listing
March 2019

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 2015 Jun 11;30(6):952-7. Epub 2015 Mar 11.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfv014DOI Listing
June 2015

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

J Invest Dermatol 2014 Aug 27;134(8):2097-2104. Epub 2014 Feb 27.

Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.118DOI Listing
August 2014

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

Turk J Pediatr 2010 Sep-Oct;52(5):529-33

Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.

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April 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

J Med Genet 2011 Mar 26;48(3):160-7. Epub 2010 Nov 26.

Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2010.082230DOI Listing
March 2011

Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.

Am J Med Genet A 2010 Oct;152A(10):2656-7

Department of Dermatology, Santa Casa de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33625DOI Listing
October 2010

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

Genet Test Mol Biomarkers 2009 Oct;13(5):589-97

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1089/gtmb.2009.0020DOI Listing
October 2009

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Am J Med Genet A 2009 Sep;149A(9):1948-51

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

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http://doi.wiley.com/10.1002/ajmg.a.32793
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http://dx.doi.org/10.1002/ajmg.a.32793DOI Listing
September 2009

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008