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Genetic Testing|February 25, 2005
Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticumXiaofeng Hu, Astrid Plomp, Theo Gorgels, et al.
Investigative Ophthalmology & Visual Science|April 26, 2003
Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticumXiaofeng Hu, Ron Peek, Astrid Plomp, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|June 28, 2014
ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief reportRobert S Jansen, Suzanne Duijst, Sunny Mahakena, et al.
European Journal of Human Genetics : EJHG|April 4, 2003
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticumXiaofeng Hu, Astrid Plomp, Jan Wijnholds, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
Human Genetics|May 1, 2024
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysisBrett M Colbert, Cris Lanting, Molly Smeal, et al.
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