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Items: 1 to 50 of 309

1.

[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].

Milenkovic A, Brandl C, Nachtigal AL, Kellner U, Weber BHF.

Klin Monbl Augenheilkd. 2020 Mar;237(3):259-266. doi: 10.1055/a-1065-2129. Epub 2020 Mar 2. German.

PMID:
32120431
2.

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF.

Int J Mol Sci. 2020 Feb 26;21(5). pii: E1597. doi: 10.3390/ijms21051597.

3.

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.

Strunz T, Lauwen S, Kiel C; International AMD Genomics Consortium (IAMDGC), Hollander AD, Weber BHF.

Sci Rep. 2020 Jan 31;10(1):1584. doi: 10.1038/s41598-020-58510-9.

4.

Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.

Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E.

Ophthalmic Res. 2020;63(2):141-151. doi: 10.1159/000504757. Epub 2020 Jan 10.

PMID:
31927556
5.

Cell-Type-Specific Complement Expression in the Healthy and Diseased Retina.

Pauly D, Agarwal D, Dana N, Schäfer N, Biber J, Wunderlich KA, Jabri Y, Straub T, Zhang NR, Gautam AK, Weber BHF, Hauck SM, Kim M, Curcio CA, Stambolian D, Li M, Grosche A.

Cell Rep. 2019 Nov 26;29(9):2835-2848.e4. doi: 10.1016/j.celrep.2019.10.084. Epub 2019 Nov 26.

6.

Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial.

Liao DS, Grossi FV, El Mehdi D, Gerber MR, Brown DM, Heier JS, Wykoff CC, Singerman LJ, Abraham P, Grassmann F, Nuernberg P, Weber BHF, Deschatelets P, Kim RY, Chung CY, Ribeiro RM, Hamdani M, Rosenfeld PJ, Boyer DS, Slakter JS, Francois CG.

Ophthalmology. 2020 Feb;127(2):186-195. doi: 10.1016/j.ophtha.2019.07.011. Epub 2019 Jul 16.

7.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.

BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.

8.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM.

Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18.

PMID:
31212395
9.

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.

Milenkovic A, Schmied D, Tanimoto N, Seeliger MW, Sparrow JR, Weber BHF.

Biol Open. 2019 Jul 2;8(7). pii: bio041335. doi: 10.1242/bio.041335.

10.

Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data.

Grassmann F; International AMD Genomics Consortium (IAMDGC), Weber BHF, Veitia RA.

Hum Genet. 2020 Mar;139(3):401-407. doi: 10.1007/s00439-019-02029-1. Epub 2019 May 27.

PMID:
31134332
11.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

12.

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

Grassmann F, Harsch S, Brandl C, Kiel C, Nürnberg P, Toliat MR, Fleckenstein M, Pfau M, Schmitz-Valckenberg S, Holz FG, Chew EY, Swaroop A, Ratnapriya R, Klein ML, Mulyukov Z, Zamiri P, Weber BHF.

JAMA Ophthalmol. 2019 May 23. doi: 10.1001/jamaophthalmol.2019.1318. [Epub ahead of print]

PMID:
31120506
13.

Identification of the retinoschisin-binding site on the retinal Na/K-ATPase.

Plössl K, Straub K, Schmid V, Strunz F, Wild J, Merkl R, Weber BHF, Friedrich U.

PLoS One. 2019 May 2;14(5):e0216320. doi: 10.1371/journal.pone.0216320. eCollection 2019.

14.

On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration.

Gorski M, Günther F, Winkler TW, Weber BHF, Heid IM.

Genet Epidemiol. 2019 Jul;43(5):559-576. doi: 10.1002/gepi.22204. Epub 2019 Apr 23.

15.

Retinal Layer Thicknesses in Early Age-Related Macular Degeneration: Results From the German AugUR Study.

Brandl C, Brücklmayer C, Günther F, Zimmermann ME, Küchenhoff H, Helbig H, Weber BHF, Heid IM, Stark KJ.

Invest Ophthalmol Vis Sci. 2019 Apr 1;60(5):1581-1594. doi: 10.1167/iovs.18-25332.

16.

The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia.

Mages K, Grassmann F, Jägle H, Rupprecht R, Weber BHF, Hauck SM, Grosche A.

J Neuroinflammation. 2019 Feb 18;16(1):43. doi: 10.1186/s12974-019-1424-5.

17.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.

Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15.

18.

Views of ophthalmologists on the genetics of age-related macular degeneration: Results of a qualitative study.

Loss J, Müller D, Weigl J, Helbig H, Brandl C, Heid IM, Finger RP, Weber BHF, Curbach J.

PLoS One. 2018 Dec 20;13(12):e0209328. doi: 10.1371/journal.pone.0209328. eCollection 2018.

19.

Y chromosome mosaicism is associated with age-related macular degeneration.

Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF; International Age-related Macular Degeneration Genomics Consortium (IAMDGC).

Eur J Hum Genet. 2019 Jan;27(1):36-41. doi: 10.1038/s41431-018-0238-8. Epub 2018 Aug 29.

20.

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study.

Müller PL, Pfau M, Möller PT, Nadal J, Schmid M, Lindner M, de Sisternes L, Stöhr H, Weber BHF, Neuhaus C, Herrmann P, Schmitz-Valckenberg S, Holz FG, Fleckenstein M.

Invest Ophthalmol Vis Sci. 2018 Mar 20;59(4):AMD122-AMD131. doi: 10.1167/iovs.18-23819.

PMID:
30140905
21.

Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration.

Pujol-Lereis LM, Liebisch G, Schick T, Lin Y, Grassmann F, Uchida K, Zipfel PF, Fauser S, Skerka C, Weber BHF.

PLoS One. 2018 Aug 2;13(8):e0200739. doi: 10.1371/journal.pone.0200739. eCollection 2018.

22.

Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.

Plössl K, Schmid V, Straub K, Schmid C, Ammon M, Merkl R, Weber BHF, Friedrich U.

Exp Eye Res. 2018 Dec;177:23-34. doi: 10.1016/j.exer.2018.07.021. Epub 2018 Jul 21.

PMID:
30040949
23.

On the impact of different approaches to classify age-related macular degeneration: Results from the German AugUR study.

Brandl C, Zimmermann ME, Günther F, Barth T, Olden M, Schelter SC, Kronenberg F, Loss J, Küchenhoff H, Helbig H, Weber BHF, Stark KJ, Heid IM.

Sci Rep. 2018 Jun 6;8(1):8675. doi: 10.1038/s41598-018-26629-5.

24.

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

Garces F, Jiang K, Molday LL, Stöhr H, Weber BH, Lyons CJ, Maberley D, Molday RS.

Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2305-2315. doi: 10.1167/iovs.17-23364.

25.

Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy.

Goldberg MF, McLeod S, Tso M, Packo K, Edwards M, Bhutto IA, Baldeosingh R, Eberhart C, Weber BHF, Lutty GA.

Ophthalmol Retina. 2018 Apr;2(4):360-378. doi: 10.1016/j.oret.2017.08.001.

26.

Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases.

Kiel C, Weber BHF, Grassmann F.

Adv Exp Med Biol. 2018;1074:247-255. doi: 10.1007/978-3-319-75402-4_30.

PMID:
29721950
27.

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE.

Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23.

28.
29.

A Deep Learning Algorithm for Prediction of Age-Related Eye Disease Study Severity Scale for Age-Related Macular Degeneration from Color Fundus Photography.

Grassmann F, Mengelkamp J, Brandl C, Harsch S, Zimmermann ME, Linkohr B, Peters A, Heid IM, Palm C, Weber BHF.

Ophthalmology. 2018 Sep;125(9):1410-1420. doi: 10.1016/j.ophtha.2018.02.037. Epub 2018 Apr 10.

30.

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver.

Strunz T, Grassmann F, Gayán J, Nahkuri S, Souza-Costa D, Maugeais C, Fauser S, Nogoceke E, Weber BHF.

Sci Rep. 2018 Apr 12;8(1):5865. doi: 10.1038/s41598-018-24219-z.

31.

Effects of genetic variants in the TSPO gene on protein structure and stability.

Milenkovic VM, Bader S, Sudria-Lopez D, Siebert R, Brandl C, Nothdurfter C, Weber BHF, Rupprecht R, Wetzel CH.

PLoS One. 2018 Apr 11;13(4):e0195627. doi: 10.1371/journal.pone.0195627. eCollection 2018.

32.

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.

Winkler TW, Brandl C, Grassmann F, Gorski M, Stark K, Loss J, Weber BHF, Heid IM; International Age-related Macular Degeneration Genomics Consortium (IAMDGC).

PLoS One. 2018 Mar 12;13(3):e0194321. doi: 10.1371/journal.pone.0194321. eCollection 2018.

33.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E.

Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.

34.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.

Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).

BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.

35.

[Personalized Ophthalmology - Induced Pluripotent Stem Cells for In Vitro Modelling of Retinal Degenerative Diseases].

Brandl C, Weber BHF.

Klin Monbl Augenheilkd. 2018 Mar;235(3):301-308. doi: 10.1055/s-0043-125081. Epub 2018 Feb 16. Review. German.

PMID:
29452453
36.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

37.

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD.

Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077.

PMID:
28863407
38.

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.

Brandl C, Schulz HL, Charbel Issa P, Birtel J, Bergholz R, Lange C, Dahlke C, Zobor D, Weber BHF, Stöhr H.

Genes (Basel). 2017 Jun 23;8(7). pii: E170. doi: 10.3390/genes8070170.

39.

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.

Plössl K, Royer M, Bernklau S, Tavraz NN, Friedrich T, Wild J, Weber BHF, Friedrich U.

Mol Biol Cell. 2017 Aug 1;28(16):2178-2189. doi: 10.1091/mbc.E17-01-0064. Epub 2017 Jun 14.

40.

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K; International AMD Genomics Consortium (IAMDGC), Heid IM, Weber BH.

Genome Med. 2017 Mar 27;9(1):29. doi: 10.1186/s13073-017-0418-0.

41.

Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption.

Kanno CM, de Oliveira JA, Garcia JF, Roth H, Weber BH.

Am J Orthod Dentofacial Orthop. 2017 Mar;151(3):598-606. doi: 10.1016/j.ajodo.2016.09.012.

PMID:
28257744
42.

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936.

43.

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.

Kellner U, Stöhr H, Weinitz S, Farmand G, Weber BHF.

Ophthalmic Genet. 2017 Jul-Aug;38(4):340-344. doi: 10.1080/13816810.2016.1227459. Epub 2017 Jan 17.

PMID:
28095071
44.

Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator.

Micklisch S, Lin Y, Jacob S, Karlstetter M, Dannhausen K, Dasari P, von der Heide M, Dahse HM, Schmölz L, Grassmann F, Alene M, Fauser S, Neumann H, Lorkowski S, Pauly D, Weber BH, Joussen AM, Langmann T, Zipfel PF, Skerka C.

J Neuroinflammation. 2017 Jan 5;14(1):4. doi: 10.1186/s12974-016-0776-3.

45.

The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina.

Plössl K, Weber BH, Friedrich U.

J Cell Mol Med. 2017 Apr;21(4):768-780. doi: 10.1111/jcmm.13019. Epub 2016 Dec 20.

46.

Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study.

Brandl C, Breinlich V, Stark KJ, Enzinger S, Aßenmacher M, Olden M, Grassmann F, Graw J, Heier M, Peters A, Helbig H, Küchenhoff H, Weber BH, Heid IM.

PLoS One. 2016 Nov 28;11(11):e0167181. doi: 10.1371/journal.pone.0167181. eCollection 2016.

47.

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Grassmann F, Heid IM, Weber BH; International AMD Genomics Consortium (IAMDGC).

Genetics. 2017 Feb;205(2):919-924. doi: 10.1534/genetics.116.195966. Epub 2016 Nov 22.

48.

Progression of Late-Onset Stargardt Disease.

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