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Andrea Milenkovic
Andrea Milenkovic
未知所在单位机构
在 ukr.de 的电子邮件经过验证
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引用次数
引用次数
年份
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement …
A Rivera, SA Fisher, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, ...
Human molecular genetics 14 (21), 3227-3236, 2005
9542005
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA
LG Fritsche, T Loenhardt, A Janssen, SA Fisher, A Rivera, CN Keilhauer, ...
Nature genetics 40 (7), 892-896, 2008
4842008
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
WBH Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A
Human Molecular Genetic, 1998
4211998
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
A Rivera, K White, H Stöhr, K Steiner, N Hemmrich, T Grimm, B Jurklies, ...
The American Journal of Human Genetics 67 (4), 800-813, 2000
3982000
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular …
F Krämer, K White, D Pauleikhoff, A Gehrig, L Passmore, A Rivera, ...
European Journal of Human Genetics 8 (4), 286-292, 2000
2732000
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells
A Milenkovic, C Brandl, VM Milenkovic, T Jendryke, L Sirianant, ...
Proceedings of the National Academy of Sciences 112 (20), E2630-E2639, 2015
1372015
In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC)
C Brandl, SJ Zimmermann, VM Milenkovic, SMG Rosendahl, ...
Neuromolecular medicine 16, 551-564, 2014
1192014
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane
VM Milenkovic, A Rivera, F Horling, BHF Weber
Journal of biological chemistry 282 (2), 1313-1321, 2007
1072007
Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate
SA Fisher, A Rivera, LG Fritsche, G Babadjanova, S Petrov, BHF Weber
British Journal of Ophthalmology 91 (5), 576-578, 2007
522007
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal …
A Milenkovic, VM Milenkovic, CH Wetzel, BHF Weber
Human molecular genetics 27 (9), 1630-1641, 2018
442018
Case–control genetic association study of fibulin‐6 (FBLN6 or HMCN1) variants in age‐related macular degeneration (AMD)
SA Fisher, A Rivera, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, ...
Human mutation 28 (4), 406-413, 2007
442007
A gene map of the Best’s vitelliform macular dystrophy region in chromosome 11q12–q13. 1
H Stöhr, A Marquardt, A Rivera, PR Cooper, NJ Nowak, TB Shows, ...
Genome research 8 (1), 48-56, 1998
421998
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)
F Grassmann, U Friedrich, S Fauser, T Schick, A Milenkovic, HL Schulz, ...
Neuromolecular medicine 17, 111-120, 2015
392015
Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und retinitis pigmentosa (STGD1/RP19)
G Rudolph, P Kalpadakis, C Haritoglou, A Rivera, BHF Weber
Klinische Monatsblätter für Augenheilkunde 219 (08), 590-596, 2002
322002
Mutation-dependent pathomechanisms determine the phenotype in the bestrophinopathies
AL Nachtigal, A Milenkovic, C Brandl, HL Schulz, LMJ Duerr, GE Lang, ...
International journal of molecular sciences 21 (5), 1597, 2020
292020
The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy
A Milenkovic, D Schmied, N Tanimoto, MW Seeliger, JR Sparrow, ...
Biology open 8 (7), bio041335, 2019
112019
Retinal organoid differentiation methods determine organoid cellular composition
P Berber, A Milenkovic, L Michaelis, BHF Weber
J. Transl. Genet. Genom 5, 292-303, 2021
102021
Bestrophin1 is the volume-regulated anion channel in mouse sperm and human retinal pigment epithelium
A Milenkovic, C Brandl, VM Milenkovic, T Jendrike, L Sirianant, ...
Proc Natl Acad Sci USA 112, E2630-E2639, 2015
82015
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13. 1 and its exclusion in Best's vitelliform macular dystrophy
H Stöhr, A Marquardt, A Rivera, U Kellner, BHF Weber
European Journal of Human Genetics 6 (4), 400-405, 1998
61998
Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies
A Milenkovic, C Brandl, AL Nachtigal, U Kellner, BHF Weber
Klinische Monatsblatter fur Augenheilkunde 237 (3), 259-266, 2020
52020
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