PubMed

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.

Breast Cancer Res Treat. 2009 Nov 26. [Epub ahead of print]PMID: 19941162 [PubMed - as supplied by publisher]Related articles

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.

Yang R, Schlehe B, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Volkmann J, Varon R, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B.

Breast Cancer Res Treat. 2009 Nov 18. [Epub ahead of print]PMID: 19921425 [PubMed - as supplied by publisher]Related articles

Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.

Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, D'Amato M, Schlehe B, Hemminki K, Sutter C, Ditsch N, Blackburn A, Hill LZ, Jerry DJ, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Engel C, Meindl A, Bartram CR, Mollenhauer J, Burwinkel B.

Hum Mutat. 2009 Oct 14. [Epub ahead of print]PMID: 19830809 [PubMed - as supplied by publisher]Related articles

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

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, Weber BH.

PLoS One. 2009 Oct 12;4(10):e7418.PMID: 19823576 [PubMed - in process]Related articlesFree article

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

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, Reis A.

Am J Hum Genet. 2009 Oct;85(4):447-56. Epub 2009 Sep 17.PMID: 19765683 [PubMed - indexed for MEDLINE]Related articles

Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009.

Kellner U, Kellner S, Renner AB, Fiebig BS, Weinitz S, Weber BH.

Klin Monbl Augenheilkd. 2009 Sep 15. [Epub ahead of print]PMID: 19757352 [PubMed - as supplied by publisher]Related articles

The SERPING1 gene and age-related macular degeneration.

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

Lancet. 2009 Sep 12;374(9693):875-6; author reply 876-7. Review. No abstract available. PMID: 19748388 [PubMed - indexed for MEDLINE]Related articles

Heterozygous loss of function variants in CYP1B1 predispose to primary open angle glaucoma.

Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A.

Invest Ophthalmol Vis Sci. 2009 Jul 30. [Epub ahead of print]PMID: 19643970 [PubMed - as supplied by publisher]Related articles

Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration.

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

J Neurochem. 2009 Sep;110(6):1863-75. Epub 2009 Jul 17.PMID: 19627444 [PubMed - indexed for MEDLINE]Related articles

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.

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

Arch Ophthalmol. 2009 Jul;127(7):907-12.PMID: 19597113 [PubMed - indexed for MEDLINE]Related articles

S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis.

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

J Biol Chem. 2009 Jul 24;284(30):19927-36. Epub 2009 May 28.PMID: 19478078 [PubMed - indexed for MEDLINE]Related articles

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

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

J Neurosci. 2009 May 27;29(21):6809-18.PMID: 19474308 [PubMed - indexed for MEDLINE]Related articlesFree article

Geographic atrophy in age-related macular degeneration and TLR3.

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

N Engl J Med. 2009 May 21;360(21):2252-4; author reply 2255-6. No abstract available. PMID: 19469038 [PubMed - indexed for MEDLINE]Related articles

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

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

Br J Dermatol. 2009 Oct;161(4):944-7. Epub 2009 May 21. No abstract available. PMID: 19466957 [PubMed - in process]Related articles

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

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

Hum Mutat. 2009 Jul;30(7):1048-53.PMID: 19384966 [PubMed - indexed for MEDLINE]Related articles

Induction of early growth response-1 mediates microglia activation in vitro but is dispensable in vivo.

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

Neuromolecular Med. 2009;11(2):87-96. Epub 2009 Apr 14.PMID: 19365618 [PubMed - indexed for MEDLINE]Related articles

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

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

Exp Eye Res. 2009 Aug;89(2):209-17. Epub 2009 Mar 27.PMID: 19328783 [PubMed - indexed for MEDLINE]Related articles

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

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

Am J Ophthalmol. 2009 May;147(5):895-902, 902.e1. Epub 2009 Feb 25.PMID: 19243736 [PubMed - indexed for MEDLINE]Related articles

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

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, Burwinkel B.

Breast Cancer Res Treat. 2009 Nov;118(2):407-13. Epub 2009 Feb 20.PMID: 19229607 [PubMed - in process]Related articles

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

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

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. Epub 2009 Jan 31.PMID: 19182256 [PubMed - indexed for MEDLINE]Related articles

Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

Farwick A, Dasch B, Weber BH, Pauleikhoff D, Stoll M, Hense HW.

Eye (Lond). 2009 Jan 23. [Epub ahead of print]PMID: 19169232 [PubMed - as supplied by publisher]Related articles

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

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

Am J Hum Genet. 2008 Dec;83(6):781-6.PMID: 19061984 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. Epub 2008 Nov 26.PMID: 19038374 [PubMed - indexed for MEDLINE]Related articles

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

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, Burwinkel B.

Carcinogenesis. 2009 Jan;30(1):59-64. Epub 2008 Nov 20.PMID: 19028706 [PubMed - indexed for MEDLINE]Related articles

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

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

Nucleic Acids Res. 2008 Nov;36(20):6523-34. Epub 2008 Oct 16.PMID: 18927113 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Eye (Lond). 2009 Jun;23(6):1349-59. Epub 2008 Sep 12.PMID: 18791550 [PubMed - in process]Related articles

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

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

Biochem Biophys Res Commun. 2008 Sep 19;374(2):187-91. Epub 2008 Jul 9.PMID: 18619415 [PubMed - indexed for MEDLINE]Related articles

Systemic complement activation in age-related macular degeneration.

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, Oppermann M.

PLoS One. 2008 Jul 2;3(7):e2593. Erratum in: PLoS ONE. 2008;3(7). doi: 10.1371/annotation/32b9bc31-ed6d-4d31-9ce0-480407017bad. PLoS ONE. 2008;3(7). doi: 10.1371/annotation/511a1029-bc43-4510-a4ca-c1db31810acc. PMID: 18596911 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

J Leukoc Biol. 2008 Sep;84(3):736-40. Epub 2008 Jun 12.PMID: 18550791 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Nat Genet. 2008 Jul;40(7):892-6. Epub 2008 May 30.PMID: 18511946 [PubMed - indexed for MEDLINE]Related articles

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

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

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2812-22. Epub 2008 Apr 11.PMID: 18408187 [PubMed - indexed for MEDLINE]Related articlesFree article

Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.

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

Mol Ther. 2008 Jun;16(6):1010-7. Epub 2008 Mar 25.PMID: 18388913 [PubMed - indexed for MEDLINE]Related articles

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

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

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1459-63.PMID: 18385063 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular evolution and functional divergence of the bestrophin protein family.

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

BMC Evol Biol. 2008 Feb 28;8:72.PMID: 18307799 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Matrix Biol. 2008 Jun;27(5):381-92. Epub 2008 Feb 5.PMID: 18295466 [PubMed - indexed for MEDLINE]Related articles

SNPs in ultraconserved elements and familial breast cancer risk.

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, Burwinkel B.

Carcinogenesis. 2008 Feb;29(2):351-5. Epub 2008 Jan 3.PMID: 18174240 [PubMed - indexed for MEDLINE]Related articlesFree article

Profiling of WDR36 missense variants in German patients with glaucoma.

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

Invest Ophthalmol Vis Sci. 2008 Jan;49(1):270-4.PMID: 18172102 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J.

Ann Neurol. 2007 Dec;62(6):656-65.PMID: 18067136 [PubMed - indexed for MEDLINE]Related articles

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

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

Doc Ophthalmol. 2008 Mar;116(2):97-109. Epub 2007 Nov 7.PMID: 17987333 [PubMed - indexed for MEDLINE]Related articles

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

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

J Leukoc Biol. 2007 Dec;82(6):1564-74. Epub 2007 Sep 7.PMID: 17827340 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

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, Försti A.

Endocr Relat Cancer. 2007 Jun;14(2):267-77.PMID: 17639043 [PubMed - indexed for MEDLINE]Related articlesFree article

Quantifying fixation in patients with Stargardt disease.

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

Vision Res. 2007 Jul;47(15):2076-85. Epub 2007 Jun 11.PMID: 17562343 [PubMed - indexed for MEDLINE]Related articles

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

Stojic J, Stöhr H, Weber BH.

BMC Mol Biol. 2007 May 23;8:42.PMID: 17521428 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Mol Immunol. 2007 Jul;44(13):3398-406. Epub 2007 Mar 30.PMID: 17399790 [PubMed - indexed for MEDLINE]Related articles

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

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

Mol Vis. 2007 Feb 7;13:196-205. Review.PMID: 17327825 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Invest Ophthalmol Vis Sci. 2007 Feb;48(2):891-900.PMID: 17251492 [PubMed - indexed for MEDLINE]Related articlesFree article

Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis.

Molday LL, Min SH, Seeliger MW, Wu WW, Dinculescu A, Timmers AM, Janssen A, Tonagel F, Hudl K, Weber BH, Hauswirth WW, Molday RS.

Adv Exp Med Biol. 2006;572:283-9. No abstract available. PMID: 17249585 [PubMed - indexed for MEDLINE]Related articles

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

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

Hum Mutat. 2007 Apr;28(4):406-13.PMID: 17216616 [PubMed - indexed for MEDLINE]Related articles

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

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

Ophthalmic Genet. 2006 Dec;27(4):139-44.PMID: 17148040 [PubMed - indexed for MEDLINE]Related articles

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

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

J Biol Chem. 2007 Jan 12;282(2):1313-21. Epub 2006 Nov 15.PMID: 17110374 [PubMed - indexed for MEDLINE]Related articlesFree article