Andreas Janecke

Andreas Janecke

Medizinische Universität Innsbruck - Innsbruck / Austria
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 1391851
Medical University Innsbruck
person_outline Andreas Janecke's MOST POPULAR ARTICLES
1-) Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczemaA Sandilands, A Terron-Kwiatkowski, PR Hull, GM O\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Regan, TH Clayton, ...Nature genetics 39 (5), 650-654, 20077532007
2-) GJB2 mutations and degree of hearing loss: a multicenter studyRL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...The American Journal of Human Genetics 77 (6), 945-957, 20056092005
3-) Eculizumab for atypical hemolytic–uremic syndromeJ Nürnberger, T Philipp, O Witzke, AO Saez, U Vester, HA Baba, ...New England Journal of Medicine 360 (5), 542-544, 20094112009
4-) Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ...The American Journal of Human Genetics 76 (2), 227-236, 20054392005
5-) p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlationH Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...The American Journal of Human Genetics 69 (3), 481-492, 20014272001