Andreas Janecke
Andreas Janecke
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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
A Sandilands, A Terron-Kwiatkowski, PR Hull, GM O'Regan, TH Clayton, ...
Nature genetics 39 (5), 650-654, 2007
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
Eculizumab for atypical hemolytic–uremic syndrome
J Nürnberger, T Philipp, O Witzke, AO Saez, U Vester, HA Baba, ...
New England Journal of Medicine 360 (5), 542-544, 2009
p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation
H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ...
The American Journal of Human Genetics 69 (3), 481-492, 2001
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
LR Jensen, M Amende, U Gurok, B Moser, V Gimmel, A Tzschach, ...
The American Journal of Human Genetics 76 (2), 227-236, 2005
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity
T Müller, MW Hess, N Schiefermeier, K Pfaller, HL Ebner, P Heinz-Erian, ...
Nature genetics 40 (10), 1163-1165, 2008
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
AR Janecke, DA Thompson, G Utermann, C Becker, CA Hübner, ...
Nature genetics 36 (8), 850-854, 2004
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function
R Gruber, PM Elias, D Crumrine, TK Lin, JM Brandner, JP Hachem, ...
The American journal of pathology 178 (5), 2252-2263, 2011
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ...
Nature genetics 45 (10), 1216-1220, 2013
Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016-1021, 2009
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
C Tasse, S Böhringer, S Fischer, HJ Lüdecke, B Albrecht, D Horn, ...
European journal of medical genetics 48 (4), 397-411, 2005
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13
C Giunta, NH Elçioglu, B Albrecht, G Eich, C Chambaz, AR Janecke, ...
The American Journal of Human Genetics 82 (6), 1290-1305, 2008
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ...
The American Journal of Human Genetics 89 (6), 713-730, 2011
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
C Dafinger, MC Liebau, SM Elsayed, Y Hellenbroich, E Boltshauser, ...
The Journal of clinical investigation 121 (7), 2662-2667, 2011
Rhodopsin mutations in inherited retinal dystrophies and dysfunctions
A Gal, E Apfelstedt-Sylla, AR Janecke, E Zrennert
Progress in Retinal and Eye Research 16 (1), 51-79, 1997
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
E Lausch, A Janecke, M Bros, S Trojandt, Y Alanay, C De Laet, ...
Nature genetics 43 (2), 132-137, 2011
Loss of syntaxin 3 causes variant microvillus inclusion disease
CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ...
Gastroenterology 147 (1), 65-68. e10, 2014
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
C Guelly, PP Zhu, L Leonardis, L Papić, J Zidar, M Schabhüttl, ...
The American Journal of Human Genetics 88 (1), 99-105, 2011
Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model
FM Ruemmele, T Müller, N Schiefermeier, HL Ebner, S Lechner, K Pfaller, ...
Human mutation 31 (5), 544-551, 2010
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
R Mayr, AR Janecke, M Schranz, WJH Griffiths, W Vogel, A Pietrangelo, ...
Journal of hepatology 53 (5), 941-949, 2010
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