Susanne Kohl

Susanne Kohl

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Susanne Kohl

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CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.

Am J Ophthalmol 2020 Mar 14;211:142-150. Epub 2019 Nov 14.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.11.012DOI Listing
March 2020

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.

Int J Mol Sci 2019 Dec 12;20(24). Epub 2019 Dec 12.

Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.

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http://dx.doi.org/10.3390/ijms20246274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940777PMC
December 2019

Macular sensitivity in patients with congenital stationary night-blindness.

Br J Ophthalmol 2019 10 20;103(10):1507-1510. Epub 2018 Dec 20.

Centre for Ophthalmology, University Hospital Tuebingen, Tuebingen, Germany

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http://dx.doi.org/10.1136/bjophthalmol-2018-313072DOI Listing
October 2019

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Doc Ophthalmol 2019 10 2;139(2):151-160. Epub 2019 Jul 2.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s10633-019-09704-8DOI Listing
October 2019

Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene.

Acta Ophthalmol 2019 Oct 3. Epub 2019 Oct 3.

Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1111/aos.14255DOI Listing
October 2019

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.

Graefes Arch Clin Exp Ophthalmol 2019 Jun 13;257(6):1207-1215. Epub 2019 Apr 13.

Department of Ophthalmology, Klinikum Stuttgart, Kriegsbergstr. 60, 70174, Stuttgart, Germany.

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http://dx.doi.org/10.1007/s00417-019-04319-wDOI Listing
June 2019

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PLoS One 2018 21;13(12):e0205380. Epub 2018 Dec 21.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205380PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303042PMC
April 2019

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Graefes Arch Clin Exp Ophthalmol 2019 Mar 17;257(3):629-638. Epub 2019 Jan 17.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Eberhard Karls University Tuebingen, Tuebingen, Germany.

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http://link.springer.com/10.1007/s00417-018-04233-7
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http://dx.doi.org/10.1007/s00417-018-04233-7DOI Listing
March 2019

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

Invest Ophthalmol Vis Sci 2018 12;59(15):5762-5772

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-25280DOI Listing
December 2018

Usher Syndrome and Color Vision.

Curr Eye Res 2018 10 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

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http://dx.doi.org/10.1080/02713683.2018.1501804DOI Listing
October 2018

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

Ophthalmic Genet 2018 Jan-Feb;39(1):131-134. Epub 2017 May 8.

a Institute for Ophthalmic Research, Centre for Ophthalmology , University of Tübingen , Tübingen , Germany.

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http://dx.doi.org/10.1080/13816810.2017.1318925DOI Listing
June 2018

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

Acta Ophthalmol 2018 Jun 30;96(4):e445-e454. Epub 2017 Nov 30.

Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.

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http://dx.doi.org/10.1111/aos.13612DOI Listing
June 2018

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.

Exp Eye Res 2018 06 27;171:48-53. Epub 2018 Feb 27.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061521PMC
June 2018

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.

BMC Med Genet 2018 06 26;19(1):107. Epub 2018 Jun 26.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn 7, D-72076, Tuebingen, Germany.

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http://dx.doi.org/10.1186/s12881-018-0623-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019650PMC
June 2018

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Invest Ophthalmol Vis Sci 2018 06;59(7):3041-3052

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.18-24033DOI Listing
June 2018

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Sci Rep 2018 04 4;8(1):5665. Epub 2018 Apr 4.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, F-75012, Paris, France.

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http://dx.doi.org/10.1038/s41598-018-23919-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884771PMC
April 2018

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Hum Mutat 2017 11 28;38(11):1579-1591. Epub 2017 Aug 28.

Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany.

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http://doi.wiley.com/10.1002/humu.23311
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http://dx.doi.org/10.1002/humu.23311DOI Listing
November 2017

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

Invest Ophthalmol Vis Sci 2017 09;58(11):4457-4466

University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.17-22077DOI Listing
September 2017

CDHR1 mutations in retinal dystrophies.

Sci Rep 2017 08 1;7(1):6992. Epub 2017 Aug 1.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/s41598-017-07117-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539332PMC
August 2017

FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.

Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S73-S76

*Institute for Ophthalmic Research, Center for Ophthalmology, Eberhard Karls University, Tuebingen, Germany; †CeGaT GmbH, Tuebingen, Germany; and ‡Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.

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http://dx.doi.org/10.1097/ICB.0000000000000420DOI Listing
April 2017

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Invest Ophthalmol Vis Sci 2017 02;58(2):821-832

Center for Ophthalmology, University of Tübingen, Tübingen, Germany 7Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1167/iovs.16-20427DOI Listing
February 2017

Achromatopsia mutations target sequential steps of ATF6 activation.

Proc Natl Acad Sci U S A 2017 01 27;114(2):400-405. Epub 2016 Dec 27.

Department of Pathology, University of California, San Diego, La Jolla, CA 92093;

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http://dx.doi.org/10.1073/pnas.1606387114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240680PMC
January 2017

Endoplasmic reticulum stress in human photoreceptor diseases.

Brain Res 2016 10 23;1648(Pt B):538-541. Epub 2016 Apr 23.

Pathology, University of California, San Diego, La Jolla, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2016.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036988PMC
October 2016

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

JAMA Ophthalmol 2016 Aug;134(8):924-7

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1543DOI Listing
August 2016

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

Eur J Hum Genet 2016 Mar 8;24(3):459-62. Epub 2015 Jul 8.

Molecular Genetics Laboratory, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755378PMC
March 2016

Achromatopsia: on the doorstep of a possible therapy.

Ophthalmic Res 2015 21;54(2):103-8. Epub 2015 Aug 21.

Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1159/000435957DOI Listing
March 2016

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

Mol Vis 2014 23;20:1732-9. Epub 2014 Dec 23.

Chair and Department of Medical Genetics, Poznan University of Medical Science, Poland ; Center for Medical Genetics GENESIS, Poznan, Poland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279706PMC
December 2015

Multimodal assessment of choroideremia patients defines pre-treatment characteristics.

Graefes Arch Clin Exp Ophthalmol 2015 Dec 7;253(12):2143-50. Epub 2015 Mar 7.

University Eye Hospital, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1007/s00417-015-2976-4DOI Listing
December 2015

Retinal Development in Infants and Young Children with Achromatopsia.

Ophthalmology 2015 Oct 9;122(10):2145-7. Epub 2015 May 9.

The University of Leicester Ulverscroft Eye Unit, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.03.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582068PMC
October 2015

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Acta Ophthalmol 2015 Jun 27;93(4):e281-6. Epub 2014 Nov 27.

Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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http://doi.wiley.com/10.1111/aos.12573
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http://dx.doi.org/10.1111/aos.12573DOI Listing
June 2015

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712PMC
January 2015

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Mol Vis 2014 2;20:753-9. Epub 2014 Jun 2.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://www.molvis.org/molvis/v20/753/mv-v20-753.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043607PMC
September 2014

GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?

Retina 2014 Aug;34(8):1576-87

*Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany; †Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany; ‡Department of Ophthalmology, University of Regensburg, Regensburg, Germany; and ¶Werner Reichardt Centre for Integrative Neuroscience (CIN), University of Tübingen, Tübingen, Germany.

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http://pdfs.journals.lww.com/retinajournal/2014/08000/GUCY2D
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/IAE.0000000000000129DOI Listing
August 2014

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.

Exp Eye Res 2014 Aug 30;125:217-25. Epub 2014 Jun 30.

Department of Genetics, The Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, Haifa 31096, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2014.06.017DOI Listing
August 2014

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

JAMA Ophthalmol 2014 Apr;132(4):437-45

Department of Ophthalmology, Columbia University, New York, New York6Bernard and Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York 7Department of Pathology and Cell Biology, Columbia Un.

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http://dx.doi.org/10.1001/jamaophthalmol.2013.7987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423754PMC
April 2014

Diagnostic fundus autofluorescence patterns in achromatopsia.

Am J Ophthalmol 2013 Dec 20;156(6):1211-1219.e2. Epub 2013 Aug 20.

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1016/j.ajo.2013.06.033DOI Listing
December 2013

Clinical utility gene card for: Achromatopsia - update 2013.

Eur J Hum Genet 2013 Nov 13;21(11). Epub 2013 Mar 13.

Molecular Genetics Laboratory, Department for Ophthalmology, Institute for Ophthalmic Research, University Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798849PMC
November 2013

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Ophthalmology 2013 Nov 29;120(11):2338-43. Epub 2013 May 29.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S016164201300316
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http://dx.doi.org/10.1016/j.ophtha.2013.03.031DOI Listing
November 2013

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.

Mol Vis 2013 13;19:1350-5. Epub 2013 Jun 13.

Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692407PMC
September 2013

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Invest Ophthalmol Vis Sci 2013 Jul 12;54(7):4683-90. Epub 2013 Jul 12.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.12-11439DOI Listing
July 2013

Rod and cone function in patients with KCNV2 retinopathy.

PLoS One 2012 15;7(10):e46762. Epub 2012 Oct 15.

Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0046762PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471896PMC
March 2013

F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.

Transl Vis Sci Technol 2013 Feb 13;2(2). Epub 2013 Mar 13.

Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand ; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.

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http://dx.doi.org/10.1167/tvst.2.2.4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763889PMC
February 2013

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.

Doc Ophthalmol 2012 Dec 19;125(3):229-33. Epub 2012 Aug 19.

Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, MI, 48105, USA.

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http://dx.doi.org/10.1007/s10633-012-9350-1DOI Listing
December 2012

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

Br J Ophthalmol 2012 Sep 11;96(9):1232-6. Epub 2012 Jul 11.

Ophthalmology Group, School of Medicine, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2012-301737DOI Listing
September 2012

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

Adv Exp Med Biol 2012 ;723:337-43

Department for Ophthalmology, Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Tuebingen, Roentgenweg 11, S Tuebingen, 72076, Germany.

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http://dx.doi.org/10.1007/978-1-4614-0631-0_44DOI Listing
April 2012

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

Ophthalmic Genet 2012 Mar 5;33(1):34-8. Epub 2011 Jul 5.

Centre for Ophthalmology, University of Tübingen, Germany.

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http://dx.doi.org/10.3109/13816810.2011.592178DOI Listing
March 2012

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

Invest Ophthalmol Vis Sci 2011 Nov 7;52(12):8621-9. Epub 2011 Nov 7.

Department of Ophthalmology, Justus-Liebig-University, Giessen, Germany.

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http://dx.doi.org/10.1167/iovs.11-8187DOI Listing
November 2011

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.

Ophthalmic Genet 2011 Sep 15;32(3):151-5. Epub 2011 Mar 15.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.3109/13816810.2011.559650DOI Listing
September 2011

Clinical utility gene card for: achromatopsia.

Eur J Hum Genet 2011 Jun 26;19(6). Epub 2011 Jan 26.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.

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http://www.nature.com/articles/ejhg2010231
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http://dx.doi.org/10.1038/ejhg.2010.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110037PMC
June 2011

Clinical utility gene card for: blue cone monochromatism.

Eur J Hum Genet 2011 Jun 26;19(6). Epub 2011 Jan 26.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Opthalmology, University Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110038PMC
June 2011

High-resolution in vivo imaging in achromatopsia.

Ophthalmology 2011 May 6;118(5):882-7. Epub 2011 Jan 6.

Ophthalmology Group, School of Medicine, University of Leicester, Leicester, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420100094
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http://dx.doi.org/10.1016/j.ophtha.2010.08.053DOI Listing
May 2011

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Hum Mol Genet 2011 Feb 1;20(4):719-30. Epub 2010 Dec 1.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, D-72076 Tuebingen, Germany.

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http://dx.doi.org/10.1093/hmg/ddq517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269206PMC
February 2011

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.

Hum Genet 2010 Sep 13;128(3):261-7. Epub 2010 Jun 13.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00439-010-0846-zDOI Listing
September 2010

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Ophthalmic Genet 2010 Sep;31(3):139-40

Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Sweden.

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http://dx.doi.org/10.3109/13816810.2010.486776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096809PMC
September 2010

Oligocone trichromacy: clinical and molecular genetic investigations.

Invest Ophthalmol Vis Sci 2010 Jan 24;51(1):89-95. Epub 2009 Sep 24.

National Eye Clinic, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1167/iovs.09-3988DOI Listing
January 2010

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Hum Mutat 2009 Aug;30(8):E782-96

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/humu.21055DOI Listing
August 2009

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

Am J Ophthalmol 2009 Mar 26;147(3):518-530.e1. Epub 2008 Nov 26.

Augenklinik, Charité-Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajo.2008.09.007DOI Listing
March 2009

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Mol Vis 2008 Jul 10;14:1293-7. Epub 2008 Jul 10.

Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2464613PMC
July 2008