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Bernhard Weber

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Ahmad Zhour; Eberhart Zrenner; Sylvia Bolz; Christian grimm, Prof Dr. Phil. Nat.; Andreas Schatz; Bernhard H F Weber; Gabriel Willmann; M Dominik Fischer
In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.
Robert S Molday; Ulrich Kellner; Bernhard H F Weber
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Lars G Fritsche; Frank G Holz; Claudia N Keilhauer; Friederike Mackensen; Ulrich Mansmann; Andreas Mößner; Daniel Pauleikhoff; Agnes B Renner; Steffen Schmitz-Valckenberg; Hendrik P N Scholl; Christine Adrion; Almut Bindewald-Wittich; Britta S Fiebig; Monika Fleckenstein; Bernhard H F Weber
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

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2012: Ahmad Zhour; Eberhart Zrenner; Sylvia Bolz; Christian grimm, Prof Dr. Phil. Nat.; Andreas Schatz; Bernhard H F Weber; Gabriel Willmann; M Dominik Fischer
In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.
Veterinary ophthalmology 2012;15 Suppl 2():123-33.
2012: Robert S Molday; Ulrich Kellner; Bernhard H F Weber
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Progress in retinal and eye research 2012;31(3):195-212.
2012: Lars G Fritsche; Frank G Holz; Claudia N Keilhauer; Friederike Mackensen; Ulrich Mansmann; Andreas Mößner; Daniel Pauleikhoff; Agnes B Renner; Steffen Schmitz-Valckenberg; Hendrik P N Scholl; Christine Adrion; Almut Bindewald-Wittich; Britta S Fiebig; Monika Fleckenstein; Bernhard H F Weber
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
Investigative ophthalmology & visual science 2012;53(4):2112-8.
2012: Diego Delgado; Eduardo Fernández; Maria Ángeles Solinís; Bernhard H F Weber; Marcelino Avilés-Triqueros; Ana del Pozo-Rodríguez; Alicia R Gascón
Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis.
Human gene therapy 2012;23(4):345-55.
2012: Felix Grassmann; Iris M Heid; Claudia N Keilhauer; Lars G Fritsche; Bernhard H F Weber
Modelling the genetic risk in age-related macular degeneration.
PloS one 2012;7(5):e37979.
2012: Dominique C Baas; Rando Allikmets; Paulus T V M de Jong; Michael Dean; Lars G Fritsche; Theo G M F Gorgels; Gregory S Hageman; Lintje Ho; Albert Hofman; Caroline C W Klaver; Bobby P C Koeleman; Joanna E Merriam; Michael W T Tanck; Jacoline B ten Brink; André G Uitterlinden; Cornelia M van Duijn; Ruben van het Slot; Johannes R Vingerling; Bernhard H F Weber; Arthur A B Bergen
Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.
Molecular vision 2012;18():657-74.
2011: Dženita Smailhodzic; Thomas Theelen; Johannes P H van de Ven; Ramon A C van Huet; Bernhard H F Weber; Camiel J F Boon; Anneke I den Hollander; Monika Fleckenstein; Frank G Holz; Carel B Hoyng; Steffen Schmitz-Valckenberg; B Jeroen Klevering
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Investigative ophthalmology & visual science 2011;52(12):8908-18.
2011: Claudia N Keilhauer; Lars G Fritsche; Bernhard H F Weber
Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.
Ophthalmic genetics 2011;32(4):237-44.
2011: Nadine Lauer; Michael Mihlan; Ursula Schlötzer-Schrehardt; Hendrik P N Scholl; Christine Skerka; Bernhard H F Weber; Peter Charbel Issa; Andrea Hartmann; Frank Holz; Claudia N Keilhauer; Peter F Zipfel
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant.
Journal of immunology (Baltimore, Md. : 1950) 2011;187(8):4374-83.
2011: Vladimir M Milenkovic; Elena Röhrl; Bernhard H F Weber; Olaf Strauss
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.
Journal of cell science 2011;124(Pt 17):2988-96.
2011: Rongxi Yang; Michelle Dick; Frederik Marme; Andreas Schneeweiss; Anne Langheinz; Kari Hemminki; Christian Sutter; Peter Bugert; Barbara Wappenschmidt; Raymonda Varon; Sarah Schott; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Alfons Meindl; Claus R Bartram; Rita K Schmutzler; Heiko Müller; Volker Arndt; Hermann Brenner; Christof Sohn; Barbara Burwinkel
Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
Breast cancer research and treatment 2011;127(2):549-54.
2011: Dominik Kraus; Marcus Karlstetter; Yana Walczak; Daniela Hilfinger; Thomas Langmann; Bernhard H F Weber
Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions.
Biochimica et biophysica acta 2011;1809(4-6):245-54.
2011: Ulrike Friedrich; connie anne myers; Lars G Fritsche; Andrea Milenkovich; Armin Wolf; Joseph C Corbo; Bernhard H F Weber
Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.
Human molecular genetics 2011;20(7):1387-99.
2011: Lorena Fernández-Martínez; Stef Letteboer; Christian Y Mardin; Nicole Weisschuh; Eugen Gramer; Bernhard H F Weber; Bernd Rautenstrauss; Paulo A Ferreira; Friedrich E Kruse; André Reis; Ronald Roepman; Francesca Pasutto
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
European journal of human genetics : EJHG 2011;19(4):445-51.
2011: Ulrike Friedrich; Heidi Stöhr; Daniela Hilfinger; Thomas Loenhardt; Melitta Schachner; Thomas Langmann; Bernhard H F Weber
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
Human molecular genetics 2011;20(6):1132-42.
2011: Mandy Krumbiegel; Francesca Pasutto; Ursula Schlötzer-Schrehardt; Steffen Uebe; Matthias Zenkel; Christian Y Mardin; Nicole Weisschuh; Daniela Paoli; Eugen Gramer; Christian Becker; Arif B Ekici; Bernhard H F Weber; Peter Nürnberg; Friedrich E Kruse; André Reis
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
European journal of human genetics : EJHG 2011;19(2):186-93.
2010: Lars G Fritsche; Nadine Lauer; Andrea Hartmann; Selina Stippa; Claudia N Keilhauer; Martin Oppermann; Manoj K Pandey; Jörg Köhl; Peter F Zipfel; Bernhard H F Weber; Christine Skerka
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
Human molecular genetics 2010;19(23):4694-704.
2010: Joseph C Corbo; Karen A Lawrence; Marcus Karlstetter; connie anne myers; Musa Abdelaziz; William Dirkes; Karin Weigelt; Martin Seifert; V Benes; Lars G Fritsche; Bernhard H F Weber; Thomas Langmann
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors.
Genome research 2010;20(11):1512-25.
2010: Mandy Krumbiegel; Francesca Pasutto; Christian Y Mardin; Nicole Weisschuh; Daniela Paoli; Eugen Gramer; Bernhard H F Weber; Friedrich E Kruse; Ursula Schlötzer-Schrehardt; André Reis
Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Journal of glaucoma 2010;19(8):561-5.
2010: Thomas Langmann; Silvio Alessandro Di Gioia; Isabella Rau; Heidi Stöhr; Nela S Maksimovic; Joseph C Corbo; Agnes B Renner; Eberhart Zrenner; Govindasamy Kumaramanickavel; Marcus Karlstetter; Yvan Arsenijevic; Bernhard H F Weber; Andreas Gal; C Rivolta
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
American journal of human genetics 2010;87(3):376-81.
2010: Christopher Schroeder; Fanny Stutzmann; Bernhard H F Weber; Olaf Riess; Michael Bonin
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.
Breast cancer research and treatment 2010;122(1):287-97.
2010: Rongxi Yang; Bettina Schlehe; Kari Hemminki; Christian Sutter; Peter Bugert; Barbara Wappenschmidt; Juliane Volkmann; Raymonda Varon; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Alfons Meindl; Claus R Bartram; Rita K Schmutzler; Barbara Burwinkel
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
Breast cancer research and treatment 2010;121(3):693-702.
2010: Angelika Stellzig-Eisenhauer; Eva Decker; Philipp Meyer-Marcotty; Christiane Rau; Britta S Fiebig; Wolfram Kress; Kathrin Saar; Franz Rüschendorf; Norbert Hubner; Tiemo Grimm; Emil Witt; Bernhard H F Weber
Primary failure of eruption (PFE)--clinical and molecular genetics analysis.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopädie : Organ/official journal Deutsche Gesellschaft für Kieferorthopädie 2010;71(1):6-16.
2010: Sandrine Tchatchou; Angela Riedel; Stefan Lyer; Julia Schmutzhard; Olga Strobel-Freidekind; Sabine Gronert-Sum; Carola Mietag; Mauro D'Amato; Bettina Schlehe; Kari Hemminki; Christian Sutter; Nina Ditsch; Anneke Blackburn; Linda Zhai Hill; D Joseph Jerry; Peter Bugert; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Raymonda Varon-Mateeva; Barbara Wappenschmidt; Rita K Schmutzler; Christoph Engel; Alfons Meindl; Claus R Bartram; Jan Mollenhauer; Barbara Burwinkel
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
Human mutation 2010;31(1):60-6.
2010: Francesca Pasutto; Gabriela Chavarria-Soley; Christian Y Mardin; Karin Michels-Rautenstrauss; Magnus Ingelman-Sundberg; Lorena Fernández-Martínez; Bernhard H F Weber; Bernd Rautenstrauss; André Reis
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Investigative ophthalmology & visual science 2010;51(1):249-54.
2009: Rongxi Yang; Bowang Chen; Kari Hemminki; Barbara Wappenschmidt; Christoph Engel; Christian Sutter; Nina Ditsch; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Alfons Meindl; Claus R Bartram; Rita K Schmutzler; Barbara Burwinkel
Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.
Breast cancer research and treatment 2009;118(2):407-13.
2009: Francesca Pasutto; Tomoya Matsumoto; Christian Y Mardin; Heinrich Sticht; Johann H Brandstätter; Karin Michels-Rautenstrauss; Nicole Weisschuh; Eugen Gramer; Wishal D Ramdas; Leonieke M E van Koolwijk; Caroline C W Klaver; Johannes R Vingerling; Bernhard H F Weber; Friedrich E Kruse; Bernd Rautenstrauss; Yves-Alain Barde; André Reis
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
American journal of human genetics 2009;85(4):447-56.
2009: Stefanie Ebert; Karin Weigelt; Yana Walczak; Wolfgang Drobnik; Richard Mauerer; David A Hume; Bernhard H F Weber; Thomas Langmann
Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration.
Journal of neurochemistry 2009;110(6):1863-75.
2009: Caroline Brandl; Christian Florian; Oliver Driemel; Bernhard H F Weber; Christian Morsczeck
Identification of neural crest-derived stem cell-like cells from the corneal limbus of juvenile mice.
Experimental eye research 2009;89(2):209-17.
2009: Jian Hua Qi; Ganying Dai; Philip Luthert; Shyam Chaurasia; Joe Hollyfield; Bernhard H F Weber; Heidi Stöhr; Bela Anand-Apte
S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis.
The Journal of biological chemistry 2009;284(30):19927-36.
2009: Agnes B Renner; Britta S Fiebig; Elke Cropp; Bernhard H F Weber; Ulrich Kellner
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
Archives of ophthalmology 2009;127(7):907-12.
2009: Lars G Fritsche; Sandra Freitag-Wolf; Thomas Bettecken; Thomas Meitinger; Claudia N Keilhauer; Michael Krawczak; Bernhard H F Weber
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.
Human mutation 2009;30(7):1048-53.
2009: Mandy Krumbiegel; Francesca Pasutto; Christian Y Mardin; Nicole Weisschuh; Daniela Paoli; Eugen Gramer; Matthias Zenkel; Bernhard H F Weber; Friedrich E Kruse; Ursula Schlötzer-Schrehardt; André Reis
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Investigative ophthalmology & visual science 2009;50(6):2796-801.
2009: Heidi Stöhr; Julia B Heisig; Peter M Benz; Simon Schöberl; Vladimir M Milenkovic; Olaf Strauss; Wendy M Aartsen; Jan Wijnholds; Bernhard H F Weber; Heidi L Schulz
TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(21):6809-18.
2009: Simone Kellner; Ulrich Kellner; Bernhard H F Weber; Britta Fiebig; Silke Weinitz; Klaus Ruether
Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies.
American journal of ophthalmology 2009;147(5):895-902, 902.e1.
2009: Agnes B Renner; Britta S Fiebig; Bernhard H F Weber; Bernd Wissinger; sten andreasson; Andreas Gal; Elke Cropp; Susanne Kohl; Ulrich Kellner
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
American journal of ophthalmology 2009;147(3):518-530.e1.
2009: Ryan J Hartmaier; Sandrine Tchatchou; Alexandra S Richter; Jay Wang; Sean E McGuire; Todd C Skaar; James M Rae; Kari Hemminki; Christian Sutter; Nina Ditsch; Peter Bugert; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Raymonda Varon-Mateeva; Barbara Wappenschmidt; Rita K Schmutzler; Alfons Meindl; Claus R Bartram; Barbara Burwinkel; Steffi Oesterreich
Nuclear receptor coregulator SNP discovery and impact on breast cancer risk.
BMC cancer 2009;9():438.
2009: Hendrik P N Scholl; Monika Fleckenstein; Lars G Fritsche; Steffen Schmitz-Valckenberg; Arno Göbel; Christine Adrion; Christine Herold; Claudia N Keilhauer; Friederike Mackensen; Andreas Mössner; Daniel Pauleikhoff; Andreas W A Weinberger; Ulrich Mansmann; Frank G Holz; Tim Becker; Bernhard H F Weber
CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.
PloS one 2009;4(10):e7418.
2009: Thomas Langmann; Stefanie Ebert; Yana Walczak; Karin Weigelt; Markus U Ehrengruber; Thorsten Stiewe; Bernhard H F Weber
Induction of early growth response-1 mediates microglia activation in vitro but is dispensable in vivo.
Neuromolecular medicine 2009;11(2):87-96.
2009: Sandrine Tchatchou; Anke Jung; Kari Hemminki; Christian Sutter; Barbara Wappenschmidt; Peter Bugert; Bernhard H F Weber; Dieter Niederacher; Norbert Arnold; Raymonda Varon-Mateeva; Nina Ditsch; Alfons Meindl; Rita K Schmutzler; Claus R Bartram; Barbara Burwinkel
A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.
Carcinogenesis 2009;30(1):59-64.
2008: Eva Decker; Angelika Stellzig-Eisenhauer; Britta S Fiebig; Christiane Rau; Wolfram Kress; Kathrin Saar; Franz Rüschendorf; Norbert Hubner; Tiemo Grimm; Bernhard H F Weber
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
American journal of human genetics 2008;83(6):781-6.
2008: Thomas Langmann; Christine C L Lai; Karin Weigelt; Beatrice M Tam; Regina Warneke-Wittstock; Orson L Moritz; Bernhard H F Weber
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
Nucleic acids research 2008;36(20):6523-34.
2008: Christian Florian; Thomas Langmann; Bernhard H F Weber; Christian Morsczeck
Murine Müller cells are progenitor cells for neuronal cells and fibrous tissue cells.
Biochemical and biophysical research communications 2008;374(2):187-91.
2008: Stefanie Ebert; Tobias Schoeberl; Yana Walczak; Katharina Stoecker; Thomas Stempfl; Christoph Moehle; Bernhard H F Weber; Thomas Langmann
Chondroitin sulfate disaccharide stimulates microglia to adopt a novel regulatory phenotype.
Journal of leukocyte biology 2008;84(3):736-40.
2008: Lars G Fritsche; Thomas Loenhardt; Andreas Janssen; Sheila A Fisher; Andrea Rivera; Claudia N Keilhauer; Bernhard H F Weber
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
Nature genetics 2008;40(7):892-6.
2008: Andreas Janssen; Julia Hoellenriegel; Marton Fogarasi; Heinrich Schrewe; Mathias W Seeliger; Ernst R Tamm; Andreas Ohlmann; Christian Albrecht May; Bernhard H F Weber; Heidi Stöhr
Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.
Investigative ophthalmology & visual science 2008;49(7):2812-22.
2008: Andreas Janssen; Seok H Min; Laurie L Molday; Naoyuki Tanimoto; Mathias W Seeliger; William W Hauswirth; Robert S Molday; Bernhard H F Weber
Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(6):1010-7.
2008: Marton Fogarasi; Andreas Janssen; Bernhard H F Weber; Heidi Stöhr
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy.
Matrix biology : journal of the International Society for Matrix Biology 2008;27(5):381-92.
2008: Francesca Pasutto; Mandy Krumbiegel; Christian Y Mardin; Daniela Paoli; R Lämmer; Bernhard H F Weber; Friedrich E Kruse; Ursula Schlötzer-Schrehardt; André Reis
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Investigative ophthalmology & visual science 2008;49(4):1459-63.
2008: Agnes B Renner; Ulrich Kellner; Britta Fiebig; Elke Cropp; Michael H Foerster; Bernhard H F Weber
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Documenta ophthalmologica. Advances in ophthalmology 2008;116(2):97-109.
2008: Rongxi Yang; Bernd Frank; Kari Hemminki; Claus R Bartram; Barbara Wappenschmidt; Christian Sutter; Marion Kiechle; Peter Bugert; Rita K Schmutzler; Norbert Arnold; Bernhard H F Weber; Dieter Niederacher; Alfons Meindl; Barbara Burwinkel
SNPs in ultraconserved elements and familial breast cancer risk.
Carcinogenesis 2008;29(2):351-5.
2008: Hendrik P N Scholl; Peter Charbel Issa; Maja Walier; Stefanie Janzer; Beatrix Pollok-Kopp; Florian Börncke; Lars G Fritsche; Ngaihang V Chong; Rolf Fimmers; Thomas Wienker; Frank G Holz; Bernhard H F Weber; Martin Oppermann
Systemic complement activation in age-related macular degeneration.
PloS one 2008;3(7):e2593.
2008: Vladimir M Milenkovic; Thomas Langmann; Rainer Schreiber; Karl Kunzelmann; Bernhard H F Weber
Molecular evolution and functional divergence of the bestrophin protein family.
BMC evolutionary biology 2008;8():72.
2008: Francesca Pasutto; Christian Y Mardin; Karin Michels-Rautenstrauss; Bernhard H F Weber; Heinrich Sticht; Gabriela Chavarria-Soley; Bernd Rautenstrauss; Friedrich E Kruse; André Reis
Profiling of WDR36 missense variants in German patients with glaucoma.
Investigative ophthalmology & visual science 2008;49(1):270-4.
2007: Ute Hehr; Peter Bauer; Beate Winner; Rebecca Schüle; Akgün Olmez; Wolfgang Koehler; Gökhan Uyanik; Anna Engel; Daniela Lenz; Andrea Seibel; Andreas Hehr; Sonja Ploetz; Josep Gamez; Arndt Rolfs; Joachim Weis; Thomas M Ringer; Michael Bonin; Gerhard Schuierer; Jörg Marienhagen; Ulrich Bogdahn; Bernhard H F Weber; Haluk Topaloglu; Ludger Schols; Olaf Riess; Jürgen Winkler
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Annals of neurology 2007;62(6):656-65.
2007: Karin Weigelt; Wolfgang Ernst; Yana Walczak; Stefanie Ebert; Thomas Loenhardt; Maja Klug; Michael Rehli; Bernhard H F Weber; Thomas Langmann
Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation.
Journal of leukocyte biology 2007;82(6):1564-74.
2007: Jens Reinhard; Andre Messias; Klaus Dietz; Manfred MacKeben; Raimund Lakmann; Hendrik P N Scholl; Eckart Apfelstedt-Sylla; Bernhard H F Weber; Mathias W Seeliger; Eberhart Zrenner; Susanne Trauzettel-Klosinski
Quantifying fixation in patients with Stargardt disease.
Vision research 2007;47(15):2076-85.
2007: Christine Skerka; Nadine Lauer; Andreas A W A Weinberger; Claudia N Keilhauer; Jürgen Sühnel; Richard Smith; Ursula Schlötzer-Schrehardt; Lars G Fritsche; Stefan Heinen; Andrea Hartmann; Bernhard H F Weber; Peter F Zipfel
Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration.
Molecular immunology 2007;44(13):3398-406.
2007: Annika Vaclavicek; Justo Lorenzo Bermejo; Rita K Schmutzler; Christian Sutter; Barbara Wappenschmidt; Alfons Meindl; Marion Kiechle; Norbert Arnold; Bernhard H F Weber; Dieter Niederacher; Barbara Burwinkel; Claus R Bartram; Kari Hemminki; Asta Försti
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.
Endocrine-related cancer 2007;14(2):267-77.
2007: Sheila A Fisher; Andrea Rivera; Lars G Fritsche; Gulja Babadjanova; Sergey Petrov; Bernhard H F Weber
Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate.
The British journal of ophthalmology 2007;91(5):576-8.
2007: Sheila A Fisher; Andrea Rivera; Lars G Fritsche; Claudia N Keilhauer; Peter Lichtner; Thomas Meitinger; Günther Rudolph; Bernhard H F Weber
Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).
Human mutation 2007;28(4):406-13.
2007: Andrea Gehrig; Thomas Langmann; Franziska Horling; Andreas Janssen; Michael Bonin; Michael Walter; Sven Poths; Bernhard H F Weber
Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.
Investigative ophthalmology & visual science 2007;48(2):891-900.
2007: Michael Wirtenberger; Julia Schmutzhard; Kari Hemminki; Alfons Meindl; Christian Sutter; Rita K Schmutzler; Barbara Wappenschmidt; Marion Kiechle; Norbert Arnold; Bernhard H F Weber; Dieter Niederacher; Claus R Bartram; Barbara Burwinkel
The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.
Carcinogenesis 2007;28(2):423-6.
2007: Vladimir M Milenkovic; Andrea Rivera; Franziska Horling; Bernhard H F Weber
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.
The Journal of biological chemistry 2007;282(2):1313-21.
2007: Jelena Anacker; Heidi Stöhr; Bernhard H F Weber
Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression.
BMC molecular biology 2007;8():42.
2007: Hendrik P N Scholl; Monika Fleckenstein; Peter Charbel Issa; Claudia N Keilhauer; Frank G Holz; Bernhard H F Weber
An update on the genetics of age-related macular degeneration.
Molecular vision 2007;13():196-205.
2006: Claudia N Keilhauer; Thomas Meigen; Heidi Stöhr; Bernhard H F Weber
Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.
Ophthalmic genetics 2006;27(4):139-44.
2006: Michael Wirtenberger; Sandrine Tchatchou; Kari Hemminki; Julia Schmutzhard; Christian Sutter; Rita K Schmutzler; Alfons Meindl; Barbara Wappenschmidt; Marion Kiechle; Norbert Arnold; Bernhard H F Weber; Dieter Niederacher; Claus R Bartram; Barbara Burwinkel
Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer.
Carcinogenesis 2006;27(11):2201-8.
2006: Michael Wirtenberger; Bernd Frank; Kari Hemminki; Rüdiger Klaes; Rita K Schmutzler; Barbara Wappenschmidt; Alfons Meindl; Marion Kiechle; Norbert Arnold; Bernhard H F Weber; Dieter Niederacher; Claus R Bartram; Barbara Burwinkel
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.
Carcinogenesis 2006;27(8):1655-60.
2006: Claudia N Keilhauer; Thomas Meigen; Bernhard H F Weber
Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
Archives of ophthalmology 2006;124(7):1020-7.
2006: Sabine Preisler-Adams; Ines Schönbuchner; Britta Fiebig; Brigitte Welling; Bernd Dworniczak; Bernhard H F Weber
Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.
Cancer genetics and cytogenetics 2006;168(1):44-9.
2006: Laurie L Molday; Seok-Hong Min; Mathias W Seeliger; Winco W H Wu; Astra Dinculescu; Adrian M Timmers; Andreas Janssen; Felix Tonagel; Kristiane Hudl; Bernhard H F Weber; William W Hauswirth; Robert S Molday
Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis.
Advances in experimental medicine and biology 2006;572():283-9.
2006: Andrea Gehrig; A Janssen; Franziska Horling; Christian grimm, Prof Dr. Phil. Nat.; Bernhard H F Weber
The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse.
Cytogenetic and genome research 2006;115(1):35-44.
2005: Andrea Rivera; Sheila A Fisher; Lars G Fritsche; Claudia N Keilhauer; Peter Lichtner; Thomas Meitinger; Bernhard H F Weber
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
Human molecular genetics 2005;14(21):3227-36.
2005: Hendrik P N Scholl; Bernhard H F Weber; M M Nöthen; T Wienker; Frank G Holz
[Y402H polymorphism in complement factor H and age-related macula degeneration (AMD)].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2005;102(11):1029-35.
2005: Seok-Hong Min; Laurie L Molday; Mathias W Seeliger; Astra Dinculescu; Adrian M Timmers; Andreas Janssen; Felix Tonagel; Naoyuki Tanimoto; Bernhard H F Weber; Robert S Molday; William W Hauswirth
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(4):644-51.
2005: Sheila A Fisher; Goncalo Abecasis; Beverly M Yashar; Sepideh Zareparsi; Anand Swaroop; Sudha K Iyengar; Barbara E K Klein; Ronald Klein; Kristine E Lee; Jacek Majewski; Dennis W Schultz; Michael L Klein; Johanna M Seddon; Susan L Santangelo; Daniel E Weeks; Yvette P Conley; Tammy S Mah; Silke Schmidt; Jonathan L Haines; Margaret Pericak-Vance; Michael B Gorin; Heidi Schulz; Fabio Pardi; Cathryn M Lewis; Bernhard H F Weber
Meta-analysis of genome scans of age-related macular degeneration.
Human molecular genetics 2005;14(15):2257-64.
2005: Agnes B Renner; Hilmar Tillack; Hannelore Kraus; Franziska Krämer; Nicole Mohr; Bernhard H F Weber; Michael H Foerster; Ulrich Kellner
Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
Ophthalmology 2005;112(4):586-92.
2005: Heidi Stöhr; V Milenkowic; Bernhard H F Weber
[VMD2 and its role in Best's disease and other retinopathies].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2005;102(2):116-21.
2005: Heidi Stöhr; Laurie L Molday; Robert S Molday; Bernhard H F Weber; Bernd Biedermann; Andreas Reichenbach; Franziska Krämer
Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina.
The Journal of comparative neurology 2005;481(1):31-41.
2005: Indrajit Nanda; Franziska Krämer; Bernhard H F Weber; W Schempp; Michael Schmid
Comparative mapping of human claudin-1 (CLDN1) in great apes.
Cytogenetic and genome research 2005;108(1-3):229-33.
2004: Agnes B Renner; Hilmar Tillack; Hannelore Kraus; Susanne Kohl; Bernd Wissinger; Nicole Mohr; Bernhard H F Weber; Ulrich Kellner; Michael H Foerster
Morphology and functional characteristics in adult vitelliform macular dystrophy.
Retina (Philadelphia, Pa.) 2004;24(6):929-39.
2004: Ines Bendig; Nicole Mohr; Franziska Kramer; Bernhard H F Weber
Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin.
Cancer genetics and cytogenetics 2004;154(1):22-6.
2004: Heidi Schulz; Thomas Goetz; Juergen Kaschkoetoe; Bernhard H F Weber
The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
BMC genomics 2004;5(1):50.
2004: P Bauer; Franco Laccone; Arndt Rolfs; Ullrich Wüllner; S Bösch; Hartmut Peters; S Liebscher; M Scheible; J T Epplen; Bernhard H F Weber; E Holinski-Feder; H Weirich-Schwaiger; Deborah J Morris-Rosendahl; J Andrich; Olaf Riess
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.
Journal of medical genetics 2004;41(3):230-2.
2004: Franziska Krämer; Heidi Stöhr; Bernhard H F Weber
Cloning and characterization of the murine Vmd2 RFP-TM gene family.
Cytogenetic and genome research 2004;105(1):107-14.
2004: Heidi Schulz; F A Rahman; F M Fadl El Moula; Jelena Anacker; Andrea Gehrig; Bernhard H F Weber
Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization.
Cytogenetic and genome research 2004;106(1):74-81.
2003: Heidi Stöhr; Jelena Anacker; Bernhard H F Weber
Cellular localization of the MPP4 protein in the mammalian retina.
Investigative ophthalmology & visual science 2003;44(12):5067-74.
2003: Franziska Krämer; Nicole Mohr; Ulrich Kellner; Günther Rudolph; Bernhard H F Weber
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Human mutation 2003;22(5):418.
2003: Galina Soboleva; Birgit Geis; Heinrich Schrewe; Bernhard H F Weber
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.
Journal of cellular physiology 2003;197(1):149-56.
2003: Mathias W Seeliger; Bernhard H F Weber; Dorothea Besch; Eberhart Zrenner; Heinrich Schrewe; Helmut Mayser
MfERG waveform characteristics in the RS1h mouse model featuring a 'negative' ERG.
Documenta ophthalmologica. Advances in ophthalmology 2003;107(1):37-44.
2002: Heidi Stöhr; Nicole Mohr; Susanne Fröhlich; S Qasim Mehdi; Shomi S Bhattacharya; Bernhard H F Weber
Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34.
Biochimica et biophysica acta 2002;1579(1):18-25.
2002: Günther Rudolph; Petros Kalpadakis; Christos Haritoglou; Andrea Rivera; Bernhard H F Weber
[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].
Klinische Monatsblätter für Augenheilkunde 2002;219(8):590-6.
2002: Christina Gerth; Monika Andrassi-Darida; Markus Bock; Markus N Preising; Bernhard H F Weber; Birgit Lorenz
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2002;240(8):628-38.
2002: Inez B Frisch; Peter Haag; Heimo Steffen; Bernhard H F Weber; Frank G Holz
Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings.
Ophthalmology 2002;109(8):1484-91.
2002: Bernhard H F Weber; Lin Biao; Karen White; Konrad Kohler; Galina Soboleva; Sabine Herterich; Mathias W Seeliger; Gesine B Jaissle; Christian grimm, Prof Dr. Phil. Nat.; Charlotte Reme; Andreas Wenzel; Esther Asan; Heinrich Schrewe
A mouse model for Sorsby fundus dystrophy.
Investigative ophthalmology & visual science 2002;43(8):2732-40.
2002: Krisztina Wutz; Christian Sauer; Eberhart Zrenner; Birgit Lorenz; Tiina Alitalo; Martina Broghammer; Martin Hergersberg; Albert de La Chapelle; Bernhard H F Weber; Bernd Wissinger; Alfons Meindl; Carsten M Pusch
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
European journal of human genetics : EJHG 2002;10(8):449-56.
2002: Cornelia M Mooy; L Ingeborgh Van Den Born; Seerp Baarsma; Dion Paridaens; Thea Kraaijenbrink; Arthur Bergen; Bernhard H F Weber
Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.
Archives of ophthalmology 2002;120(7):979-84.
2002: Heidi Schulz; Heidi Stohr; Bernhard H F Weber
Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7).
Neuroscience letters 2002;326(1):37-40.
2002: Ingrid Bauer; Martin Gencik; Franco Laccone; Hartmut Peters; Bernhard H F Weber; Elke Holinski Feder; Helga Weirich; Deborah J Morris-Rosendahl; Arndt Rolfs; Alexandra Gencikova; Peter Bauer; Gregor Wenning; Jörg T Epplen; Susan E Holmes; Russell L Margolis; Christopher A Ross; Olaf Riess
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Annals of neurology 2002;51(5):662.
2002: Bernhard H F Weber; Heinrich Schrewe; Laurie L Molday; Andrea Gehrig; Karen L White; Mathias W Seeliger; Gesine B Jaissle; Christoph Friedburg; Ernst Tamm; Robert S Molday
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(9):6222-7.
2002: Heidi Stöhr; Andreas Marquardt; Indrajit Nanda; Michael Schmid; Bernhard H F Weber
Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
European journal of human genetics : EJHG 2002;10(4):281-4.
2002: Hendrik P N Scholl; Dorothea Besch; Reinhard Vonthein; Bernhard H F Weber; Eckart Apfelstedt-Sylla
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.
Investigative ophthalmology & visual science 2002;43(4):1248-56.
2002: Heidi Stöhr; Claudia Berger; Susanne Fröhlich; Bernhard H F Weber
A novel gene encoding a putative transmembrane protein with two extracellular CUB domains and a low-density lipoprotein class A module: isolation of alternatively spliced isoforms in retina and brain.
Gene 2002;286(2):223-31.
2002: Heidi Schulz; Heidi Stoehr; Karen White; Marc A van Driel; Carel B Hoyng; Frans Cremers; Bernhard H F Weber
Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.
Molecular vision 2002;8():67-71.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2001: Nancy Mah; Heidi Stoehr; Heidi Schulz; Karen White; Bernhard H F Weber
Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes.
Biochimica et biophysica acta 2001;1522(3):167-74.
2001: CG Sauer; Karen White; Heidi Stöhr; Tiemo Grimm; A Hutchinson; P S Bernstein; R A Lewis; Francesca Simonelli; Daniel Pauleikhoff; R Allikmets; Bernhard H F Weber
Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration.
The British journal of ophthalmology 2001;85(8):969-75.
2001: Heidi Stöhr; Bernhard H F Weber
Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins.
Genomics 2001;74(3):377-84.
2001: CG Sauer; Karen White; Ulrich Kellner; Günther Rudolph; Bernhard Jurklies; Daniel Pauleikhoff; Bernhard H F Weber
EFEMP1 is not associated with sporadic early onset drusen.
Ophthalmic genetics 2001;22(1):27-34.
2001: Laurie L Molday; D Hicks; C G Sauer; Bernhard H F Weber; Robert S Molday
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells.
Investigative ophthalmology & visual science 2001;42(3):816-25.
2001: Johannes Oldenburg; Vytautas Ivaskevicius; Simone Rost; Andreas Fregin; K White; E Holinski-Feder; Clemens R Müller; Bernhard H F Weber
Evaluation of DHPLC in the analysis of hemophilia A.
Journal of biochemical and biophysical methods 2001;47(1-2):39-51.
2000: A Rivera; Karen White; Heidi Stöhr; K Steiner; N Hemmrich; Tiemo Grimm; Bernhard Jurklies; B Lorenz; Hendrik P N Scholl; Eckart Apfelstedt-Sylla; Bernhard H F Weber
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
American journal of human genetics 2000;67(4):800-13.
2000: Franziska Krämer; K White; Manfred Kubbies; Karen Swisshelm; Bernhard H F Weber
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
Human genetics 2000;107(3):249-56.
2000: Andreas Marquardt; Heidi Stöhr; Karen White; Bernhard H F Weber
cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family.
Genomics 2000;66(2):175-83.
2000: Franziska Krämer; K White; Daniel Pauleikhoff; Andrea Gehrig; L Passmore; A Rivera; Günther Rudolph; Ulrich Kellner; M Andrassi; B Lorenz; Klaus Rohrschneider; Anita Blankenagel; Bernhard Jurklies; Harald Schilling; F Schütt; F G Holz; Bernhard H F Weber
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 degeneration.
European journal of human genetics : EJHG 2000;8(4):286-92.
2000: Heidi Stöhr; Nancy Mah; Heidi Schulz; Andrea Gehrig; Susanne Fröhlich; Bernhard H F Weber
EST mining of the UniGene dataset to identify retina-specific genes.
Cytogenetics and cell genetics 2000;91(1-4):267-77.
2000: S Hofferbert; U Worringen; J Backe; E M Rückert; K White; Hermann Faller; T Grimm; H Caffier; J Chang-Claude; Bernhard H F Weber
Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: first experiences with patient perceptions, surveillance behavior and acceptance of genetic testing.
Genetic counseling (Geneva, Switzerland) 2000;11(2):127-46.
2000: Heidi Stöhr; Andreas Marquardt; Karen White; Bernhard H F Weber
cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein.
Cytogenetics and cell genetics 2000;88(3-4):211-6.
2000: Karen White; Andreas Marquardt; Bernhard H F Weber
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
Human mutation 2000;15(4):301-8.
1999: Andrea Gehrig; Bernhard H F Weber; B Lorenz; M Andrassi
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
Journal of medical genetics 1999;36(12):932-4.
1999: Jenny Chang-Claude; H Becher; MA Caligo; Diana Eccles; G Evans; Neva E Haites; Shirley Hodgson; Pål Møller; Bernhard H F Weber; D Stoppa-Lyonnet
Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer.
Disease markers 1999;15(1-3):53-65.
1999: Franco Laccone; U Engel; E Holinski-Feder; M Weigell-Weber; K Marczinek; D Nolte; Deborah J Morris-Rosendahl; Christine Zühlke; K Fuchs; H Weirich-Schwaiger; Gregor Schlüter; G Von Beust; AM Vieira-Saecker; Bernhard H F Weber; Olaf Riess
DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland.
Neurology 1999;53(4):801-6.
1999: L A Passmore; B Kaesmann-Kellner; Bernhard H F Weber
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
Human genetics 1999;105(3):200-10.
1999: Andrea Gehrig; K White; B Lorenz; M Andrassi; S Clemens; Bernhard H F Weber
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
Clinical genetics 1999;55(6):461-5.
1999: J Backe; S Hofferbert; Britta Skawran; Thilo Dörk; M Stuhrmann; Johann H Karstens; M Untch; A Meindl; R Burgemeister; J Chang-Claude; Bernhard H F Weber
Frequency of BRCA1 mutation 5382insC in German breast cancer patients.
Gynecologic oncology 1999;72(3):402-6.
1999: Andrea Gehrig; R Warneke-Wittstock; CG Sauer; Bernhard H F Weber
Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(3):303-7.
1999: Heidi Stöhr; J Klein; Andrea Gehrig; MR Koehler; Bernhard Jurklies; Ulrich Kellner; Beate Leo-Kottler; Michael Schmid; Bernhard H F Weber
Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).
Human genetics 1999;104(1):99-105.
1999: N Sandoval; Matthias Platzer; André Rosenthal; Thilo Dörk; Regina Bendix; Britta Skawran; Manfred Stuhrmann; Rolf-Dieter Wegner; Karl Sperling; S Banin; Yosef Shiloh; A Baumer; U Bernthaler; H Sennefelder; M Brohm; Bernhard H F Weber; Detlev Schindler
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Human molecular genetics 1999;8(1):69-79.
1998: Andreas Marquardt; Heidi Stöhr; L A Passmore; Franziska Krämer; A Rivera; Bernhard H F Weber
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
Human molecular genetics 1998;7(9):1517-25.
1998: Andrea Gehrig; Ute Felbor; R E Kelsell; David Hunt; Irene H Maumenee; Bernhard H F Weber
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
Journal of medical genetics 1998;35(8):641-5.
1998: Heidi Stöhr; Andreas Marquardt; A Rivera; Ulrich Kellner; Bernhard H F Weber
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.
European journal of human genetics : EJHG 1998;6(4):400-5.
1998: R Warneke-Wittstock; Andreas Marquardt; Andrea Gehrig; CG Sauer; Manfred Gessler; Bernhard H F Weber
Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.
Genomics 1998;51(1):59-67.
1998: Tim M Strom; Gerald Nyakatura; Eckart Apfelstedt-Sylla; Heide Hellebrand; Birgit Lorenz; Bernhard H F Weber; K Wutz; N Gutwillinger; K Rüther; Bernd Drescher; C Sauer; Eberhart Zrenner; Thomas Meitinger; André Rosenthal; Alfons Meindl
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Nature genetics 1998;19(3):260-3.
1998: Ute Felbor; Bernhard H F Weber
[Sorsby's fundus dystrophy. A genetically homogeneous disease].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1998;95(5):287-90.
1998: MR Koehler; C G Sauer; N Reismann; Claus Steinlein; Bernhard H F Weber; H Will; Michael Schmid
Localization of the human membrane-type 2 matrix metalloproteinase gene (MMP15) to 16q12.1 near DNA elements that are part of centromeric and non-centromeric heterochromatin of 11 human chromosomes.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1998;6(3):199-203.
1998: M T Roesch; C C Ewing; A E Gibson; Bernhard H F Weber
The natural history of X-linked retinoschisis.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 1998;33(3):149-58.
1998: S Hofferbert; M Brohm; Bernhard H F Weber
Search for TSG101 germ-line mutations in BRCA1/BRCA2-negative breast/ovarian cancer families.
Cancer genetics and cytogenetics 1998;102(1):86-7.
1998: Ute Felbor; Andrea Gehrig; CG Sauer; Andreas Marquardt; M Köhler; Michael Schmid; Bernhard H F Weber
Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.
Cytogenetics and cell genetics 1998;81(1):12-7.
1998: Hermann-Dieter Schworm; Michael W Ulbig; Jan P Hoops; Günther Rudolph; Bernhard H F Weber; Oliver Ehrt; Klaus-Peter Boergen
[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1998;95(1):13-8.
1998: I Nasonkin; M Illing; M R Koehler; M Schmid; Robert S Molday; Bernhard H F Weber
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Human genetics 1998;102(1):21-6.
1998: Heidi Stöhr; Andreas Marquardt; A Rivera; Paul Roy Cooper; Norma J Nowak; TB Shows; DS Gerhard; Bernhard H F Weber
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.
Genome research 1998;8(1):48-56.
1997: CG Sauer; H D Schworm; Michael W Ulbig; Anita Blankenagel; Klaus Rohrschneider; Daniel Pauleikhoff; Tiemo Grimm; Bernhard H F Weber
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).
Journal of medical genetics 1997;34(12):961-6.
1997: Ute Felbor; Claudia Benkwitz; Michael L Klein; J Greenberg; C Y Gregory; Bernhard H F Weber
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation.
Archives of ophthalmology 1997;115(12):1569-71.
1997: CG Sauer; Andrea Gehrig; R Warneke-Wittstock; Andreas Marquardt; C C Ewing; A Gibson; B Lorenz; Bernhard Jurklies; Bernhard H F Weber
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Nature genetics 1997;17(2):164-70.
1997: Daniel Pauleikhoff; CG Sauer; C R Müller; Martin Radermacher; A Merz; Bernhard H F Weber
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family.
American journal of ophthalmology 1997;124(3):412-5.
1997: Olaf Riess; Franco Laccone; Suzana Gispert; Ludger Schöls; Christine Zühlke; AM Vieira-Saecker; S Herlt; Karl Wessel; Jörg T Epplen; Bernhard H F Weber; Friedmar R Kreuz; S Chahrokh-Zadeh; A Meindl; A Lunkes; J Aguiar; M Macek; A Krebsová; Milan Macek Jr.; Katrin Bürk; S Tinschert; I Schreyer; Stef pulst; Georg Auburger
SCA2 trinucleotide expansion in German SCA patients.
Neurogenetics 1997;1(1):59-64.
1997: Ute Felbor; D Doepner; U Schneider; E Zrenner; Bernhard H F Weber
Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies.
Investigative ophthalmology & visual science 1997;38(6):1054-9.
1997: Paul Roy Cooper; Norma J Nowak; Michael J Higgins; S A Simpson; Andreas Marquardt; Heidi Stoehr; Bernhard H F Weber; DS Gerhard; P J de Jong; TB Shows
A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13.
Genomics 1997;41(2):185-92.
1997: Ute Felbor; Harald Schilling; Bernhard H F Weber
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Human mutation 1997;10(4):301-9.
1997: Bernhard H F Weber
[Genetics of macular degeneration].
Klinische Monatsblätter für Augenheilkunde 1997;210(1):aA9-17.
1997: Ute Felbor; E A Suvanto; Henrik Forsius; A W Eriksson; Bernhard H F Weber
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
American journal of human genetics 1997;60(1):57-62.
1996: Bernhard H F Weber; M Brohm; I Stec; J Backe; H Caffier
A somatic truncating mutation in BRCA2 in a sporadic breast tumor.
American journal of human genetics 1996;59(4):962-4.
1996: S Qin; Norma J Nowak; J Zhang; Sheila N J Sait; P G Mayers; Michael J Higgins; Y Cheng; L Li; D J Munroe; DS Gerhard; Bernhard H F Weber; E Bric; David E Housman; G A Evans; TB Shows
A high-resolution physical map of human chromosome 11.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(7):3149-54.
1996: Ute Felbor; Heidi Stöhr; T Amann; U Schönherr; Eckart Apfelstedt-Sylla; Bernhard H F Weber
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
Journal of medical genetics 1996;33(3):233-6.
1996: S D Wijesuriya; K Evans; M R Jay; C Davison; Bernhard H F Weber; Alan C Bird; Shomi S Bhattacharya; C Y Gregory
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
Genome research 1996;6(2):92-101.
1995: Heidi Stöhr; K Roomp; Ute Felbor; Bernhard H F Weber
Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
Genome research 1995;5(5):483-7.
1995: Ute Felbor; Heidi Stöhr; T Amann; U Schönherr; Bernhard H F Weber
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
Human molecular genetics 1995;4(12):2415-6.
1995: Heidi Stöhr; Bernhard H F Weber
A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region.
Human genetics 1995;95(2):219-22.
1995: Bernhard H F Weber; S Janocha; G Vogt; S Sander; C C Ewing; M Roesch; A Gibson
X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443.
Cytogenetics and cell genetics 1995;69(1-2):35-7.
1994: Bernhard H F Weber; G Vogt; Heidi Stöhr; S Sander; D Walker; C Jones
High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.
American journal of human genetics 1994;55(6):1182-7.
1994: Bernhard H F Weber; G Vogt; R C Pruett; Heidi Stöhr; Ute Felbor
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
Nature genetics 1994;8(4):352-6.
1994: Heidi Stöhr; Bernhard H F Weber
(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene.
Human molecular genetics 1994;3(11):2086.
1994: Bernhard H F Weber; H Stöhr; D Walker
A case of nonpenetrance in Best's disease.
American journal of ophthalmology 1994;118(3):398-9.
1994: Bernhard H F Weber; G Vogt; W Wolz; E J Ives; C C Ewing
Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.
Nature genetics 1994;7(2):158-61.
1994: Bernhard H F Weber; Heidi Stöhr; I Siedlaczck; Jonathan L Longmire; LL Deaven; A M Duncan; Olaf Riess
Characterization of a cosmid library from flow-sorted chromosomes 11.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1994;2(3):201-7.
1994: Bernhard H F Weber; D Walker; B Müller
Molecular evidence for non-penetrance in Best's disease.
Journal of medical genetics 1994;31(5):388-92.
1994: Bernhard H F Weber; D Walker; B Müller; L Mar
Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.
Genomics 1994;20(2):267-74.