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Bettina Lorenz

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
1995 · F. Francis, S. Hennig, et al. · Nature Genetics · 1,095
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
2000 · Victor L. Ruiz-Perez, Susan E. Ide, et al. · Nature Genetics · 337
Isolation of a candidate gene for Norrie disease by positional cloning
1992 · W. Berger, A. Meindl, et al. · Nature Genetics · 253
Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia
1997 · T. M. Strom, F. Francis, et al. · Human Molecular Genetics · 198
Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets
1997 · Fiona Francis, Tim M. Strom, et al. · Genome Research · 162
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Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene
2000 · Kenneth E. White, Bettina Lorenz, et al. · Gene · 78
Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene
1998 · B Lorenz · Human Molecular Genetics · 74
Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.
1992 · A Artlich, M Horn, et al. · Europe PMC (PubMed Central) · 58
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
1995 · Alfons Meindl, Maria Raquel S. Carvalho, et al. · Human Molecular Genetics · 54
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse
1998 · Bettina Lorenz, Carmela Migliaccio, et al. · European Journal of Human Genetics · 15
Klinische und molekulargenetische Befunde beim isolierten sporadischen Retraktionssyndrom nach Stilling-Türk-Duane
2004 · B Wabbels, J Kohlhase, et al. · Klinische Monatsblätter für Augenheilkunde · 5
Annotation of Retinal Disease Genes for Regulation by Oxygenation Using Data-Mining of Microarray Studies
2010 · Rainald Schmidt‐Kastner, Janet C. Blanks, et al. · Investigative Ophthalmology & Visual Science
Deletion screening of the FOXL2 and FOXC1 region involved in BPES and Axenfeld-Rieger malformations using high-resolution tilling path BAC microarrays
2006 · Diane Beysen, B. Menten, et al.
Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
2002 · Elfride De Baere, Diane Beysen, et al. · Ghent University Academic Bibliography (Ghent University)
Works count: 14
Citation count: 2,329
H-index: 10
I10-index: 10
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