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Papers authored by Weber BH

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Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.

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Yang R, Chen B, Hemminki K, Wappenschmidt B, Engel C, Sutter C, Ditsch N, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, and Burwinkel B

Breast cancer research and treatment 118(2):407-13, 2009 Nov - Who cited this? | PubMed ID: 19229607 | Fulltext

Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis.

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Babilas P, Fiebig BS, Aslanidis C, Hansen J, Röcken C, Schroeder J, Schmitz G, Weber BH, Landthaler M, and Vogt T

The British journal of dermatology 161(4):944-7, 2009 Oct - Who cited this? | PubMed ID: 19466957 | Fulltext

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma.

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Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA,

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American journal of human genetics 85(4):447-56, 2009 Oct - Who cited this? | PubMed ID: 19765683 | Fulltext

The SERPING1 gene and age-related macular degeneration.

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Allikmets R, Dean M, Hageman GS, Baird PN, Klaver CC, Bergen AA, Weber BH, and International AMD Genetics Consortium

Lancet 374(9693):875-6; author reply 876-7, 2009 Sep 12 - Who cited this? | PubMed ID: 19748388 | Fulltext

Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration.

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Ebert S, Weigelt K, Walczak Y, Drobnik W, Mauerer R, Hume DA, Weber BH, and Langmann T

Journal of neurochemistry 110(6):1863-75, 2009 Sep - Who cited this? | PubMed ID: 19627444 | Fulltext

Identification of neural crest-derived stem cell-like cells from the corneal limbus of juvenile mice.

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Brandl C, Florian C, Driemel O, Weber BH, and Morsczeck C

Experimental eye research 89(2):209-17, 2009 Aug - Who cited this? | PubMed ID: 19328783 | Fulltext

S156C Mutation in Tissue Inhibitor of Metalloproteinases-3 Induces Increased Angiogenesis.

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Qi JH, Dai G, Luthert P, Chaurasia S, Hollyfield J, Weber BH, Stöhr H, and Anand-Apte B

The Journal of biological chemistry 284(30):19927-36, 2009 Jul 24 - Who cited this? | PubMed ID: 19478078 | Fulltext

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

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Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, and Weber BH

Human mutation 30(7):1048-53, 2009 Jul - Who cited this? | PubMed ID: 19384966 | Fulltext

Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation.

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Renner AB, Fiebig BS, Cropp E, Weber BH, and Kellner U

Archives of ophthalmology 127(7):907-12, 2009 Jul - Who cited this? | PubMed ID: 19597113 | Fulltext

Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

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Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, and Reis A

Investigative ophthalmology & visual science 50(6):2796-801, 2009 Jun - Who cited this? | PubMed ID: 19182256 | Fulltext

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.

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Stöhr H, Heisig JB, Benz PM, Schöberl S, Milenkovic VM, Strauss O, Aartsen WM, Wijnholds J, Weber BH, and Schulz HL

The Journal of neuroscience : the official journal of the Society for Neuroscience 29(21):6809-18, 2009 May 27 - Who cited this? | PubMed ID: 19474308 | Fulltext

Geographic atrophy in age-related macular degeneration and TLR3.

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Allikmets R, Bergen AA, Dean M, Guymer RH, Hageman GS, Klaver CC, Stefansson K, Weber BH, and International Age-related Macular Degeneration Genetics Consortium

The New England journal of medicine 360(21):2252-4; author reply 2255-6, 2009 May 21 - Who cited this? | PubMed ID: 19469038 | Fulltext

Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies.

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Kellner S, Kellner U, Weber BH, Fiebig B, Weinitz S, and Ruether K

American journal of ophthalmology 147(5):895-902, 902.e1, 2009 May - Who cited this? | PubMed ID: 19243736 | Fulltext

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

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Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, and Kellner U

American journal of ophthalmology 147(3):518-530.e1, 2009 Mar - Who cited this? | PubMed ID: 19038374 | Fulltext

A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.

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Tchatchou S, Jung A, Hemminki K, Sutter C, Wappenschmidt B, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Ditsch N, Meindl A, Schmutzler RK, Bartram CR, and Burwinkel B

Carcinogenesis 30(1):59-64, 2009 Jan - Who cited this? | PubMed ID: 19028706 | Fulltext

Induction of Early Growth Response-1 Mediates Microglia Activation In Vitro But is Dispensable In Vivo.

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Langmann T, Ebert S, Walczak Y, Weigelt K, Ehrengruber MU, Stiewe T, and Weber BH

Neuromolecular medicine 11(2):87-96, 2009 - Who cited this? | PubMed ID: 19365618 | Fulltext

CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.

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Scholl HP, Fleckenstein M, Fritsche LG, Schmitz-Valckenberg S, Göbel A, Adrion C, Herold C, Keilhauer CN, Mackensen F, Mössner A, Pauleikhoff D, Weinberger AW, Mansmann U, Holz FG, Becker T, and Weber BH

PLoS ONE 4(10):e7418, 2009 - Who cited this? | PubMed ID: 19823576 | Fulltext

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption.

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Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, and Weber BH

American journal of human genetics 83(6):781-6, 2008 Dec - Who cited this? | PubMed ID: 19061984 | Fulltext

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.

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Langmann T, Lai CC, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, and Weber BH

Nucleic acids research 36(20):6523-34, 2008 Nov - Who cited this? | PubMed ID: 18927113 | Fulltext

Murine Müller cells are progenitor cells for neuronal cells and fibrous tissue cells.

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Florian C, Langmann T, Weber BH, and Morsczeck C

Biochemical and biophysical research communications 374(2):187, 2008 Sep 19 - Who cited this? | PubMed ID: 18619415 | Fulltext

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

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Kellner U, Kellner S, Weber BH, Fiebig B, Weinitz S, and Ruether K

Eye (London, England), 2008 Sep 12 - Who cited this? | PubMed ID: 18791550 | Fulltext

Chondroitin sulfate disaccharide stimulates microglia to adopt a novel regulatory phenotype.

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Ebert S, Schoeberl T, Walczak Y, Stoecker K, Stempfl T, Moehle C, Weber BH, and Langmann T

Journal of leukocyte biology 84(3):736, 2008 Sep - Who cited this? | PubMed ID: 18550791 | Fulltext

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

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Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, and Weber BH

Nature genetics 40(7):892, 2008 Jul - Who cited this? | PubMed ID: 18511946 | Fulltext

Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.

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Janssen A, Hoellenriegel J, Fogarasi M, Schrewe H, Seeliger M, Tamm E, Ohlmann A, May CA, Weber BH, and Stöhr H

Investigative ophthalmology & visual science 49(7):2812-22, 2008 Jul - Who cited this? | PubMed ID: 18408187 | Fulltext

Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse.

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Janssen A, Min SH, Molday LL, Tanimoto N, Seeliger MW, Hauswirth WW, Molday RS, and Weber BH

Molecular therapy : the journal of the American Society of Gene Therapy 16(6):1010-7, 2008 Jun - Who cited this? | PubMed ID: 18388913 | Fulltext

Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy.

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Fogarasi M, Janssen A, Weber BH, and Stöhr H

Matrix biology : journal of the International Society for Matrix Biology 27(5):381-92, 2008 Jun - Who cited this? | PubMed ID: 18295466 | Fulltext

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

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Pasutto F, Krumbiegel M, Mardin CY, Paoli D, Lämmer R, Weber BH, Kruse FE, Schlötzer-Schrehardt U, and Reis A

Investigative ophthalmology & visual science 49(4):1459-63, 2008 Apr - Who cited this? | PubMed ID: 18385063 | Fulltext

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

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Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, and Weber BH

Documenta ophthalmologica. Advances in ophthalmology 116(2):97-109, 2008 Mar - Who cited this? | PubMed ID: 17987333 | Fulltext

SNPs in ultraconserved elements and familial breast cancer risk.

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Yang R, Frank B, Hemminki K, Bartram CR, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Arnold N, Weber BH, Niederacher D, Meindl A, and Burwinkel B

Carcinogenesis 29(2):351, 2008 Feb - Who cited this? | PubMed ID: 18174240 | Fulltext

Molecular evolution and functional divergence of the bestrophin protein family.

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Milenkovic VM, Langmann T, Schreiber R, Kunzelmann K, and Weber BH

BMC evolutionary biology 8:72, 2008 - Who cited this? | PubMed ID: 18307799 | Fulltext

Profiling of WDR36 Missense Variants in German Patients with Glaucoma.

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Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, and Reis A

Investigative ophthalmology & visual science 49(1):270-4, 2008 Jan - Who cited this? | PubMed ID: 18172102 | Fulltext

Systemic complement activation in age-related macular degeneration.

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Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, and Oppermann M

PLoS ONE 3(7):e2593, 2008 - Who cited this? | PubMed ID: 18596911 | Fulltext

Erratum.

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Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, and Oppermann M

PLoS ONE 3(7), 2008 - Who cited this? | PubMed ID: 19266070 | Fulltext

Erratum.

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Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, and Oppermann M

PLoS ONE 3(7), 2008 - Who cited this? | PubMed ID: 19293943 | Fulltext

Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation.

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Weigelt K, Ernst W, Walczak Y, Ebert S, Loenhardt T, Klug M, Rehli M, Weber BH, and Langmann T

Journal of leukocyte biology 82(6):1564-74, 2007 Dec - Who cited this? | PubMed ID: 17827340 | Fulltext

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

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Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM,

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Annals of neurology 62(6):656-65, 2007 Dec - Who cited this? | PubMed ID: 18067136 | Fulltext

Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration.

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Skerka C, Lauer N, Weinberger AA, Keilhauer CN, Sühnel J, Smith R, Schlötzer-Schrehardt U, Fritsche L, Heinen S, Hartmann A, Weber BH, and Zipfel PF

Molecular immunology 44(13):3398-406, 2007 Jul - Who cited this? | PubMed ID: 17399790 | Fulltext

Quantifying fixation in patients with Stargardt disease.

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Reinhard J, Messias A, Dietz K, Mackeben M, Lakmann R, Scholl HP, Apfelstedt-Sylla E, Weber BH, Seeliger MW, Zrenner E, and Trauzettel-Klosinski S

Vision research 47(15):2076-85, 2007 Jul - Who cited this? | PubMed ID: 17562343 | Fulltext

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer.

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Vaclavicek A, Bermejo JL, Schmutzler RK, Sutter C, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Burwinkel B, Bartram CR, Hemminki K, and Försti A

Endocrine-related cancer 14(2):267-77, 2007 Jun - Who cited this? | PubMed ID: 17639043 | Fulltext

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.

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Fisher SA, Rivera A, Fritsche LG, Babadjanova G, Petrov S, and Weber BH

The British journal of ophthalmology 91(5):576-8, 2007 May - Who cited this? | PubMed ID: 17050575 | Fulltext

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

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Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, and Weber BH

Human mutation 28(4):406-13, 2007 Apr - Who cited this? | PubMed ID: 17216616 | Fulltext

Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.

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Gehrig A, Langmann T, Horling F, Janssen A, Bonin M, Walter M, Poths S, and Weber BH

Investigative ophthalmology & visual science 48(2):891-900, 2007 Feb - Who cited this? | PubMed ID: 17251492 | Fulltext

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.

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Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, and Burwinkel B

Carcinogenesis 28(2):423-6, 2007 Feb - Who cited this? | PubMed ID: 16956908 | Fulltext

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.

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Milenkovic VM, Rivera A, Horling F, and Weber BH

The Journal of biological chemistry 282(2):1313, 2007 Jan 12 - Who cited this? | PubMed ID: 17110374 | Fulltext

An update on the genetics of age-related macular degeneration.

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Scholl HP, Fleckenstein M, Charbel Issa P, Keilhauer C, Holz FG, and Weber BH

Molecular vision 13:196-205, 2007 - Who cited this? | PubMed ID: 17327825 | Fulltext

Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression.

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Stojic J, Stöhr H, and Weber BH

BMC molecular biology 8:42, 2007 - Who cited this? | PubMed ID: 17521428 | Fulltext

Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.

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Keilhauer CN, Meigen T, Stöhr H, and Weber BH

Ophthalmic genetics 27(4):139-44, 2006 Dec - Who cited this? | PubMed ID: 17148040 | Fulltext

Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.

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Wirtenberger M, Tchatchou S, Hemminki K, Schmutzhard J, Sutter C, Schmutzler RK, Meindl A, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, and Burwinkel B

Carcinogenesis 27(11):2201-8, 2006 Nov - Who cited this? | PubMed ID: 16704985 | Fulltext

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.

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Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J,

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Human genetics 120(2):285-92, 2006 Sep - Who cited this? | PubMed ID: 16847693 | Fulltext

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.

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Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, and Burwinkel B

Carcinogenesis 27(8):1655, 2006 Aug - Who cited this? | PubMed ID: 16501249 | Fulltext

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