Enhanced S-cone function with preserved rod function: A new clinical phenotype

Autor: Michael Kinori, Pras E, Kolker A, Ferman-Attar G, Moroz I, Moisseiev J, Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Sharon D, Rotenstreich Y

Publikováno v: Scopus-Elsevier
Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::67e29f3da433250fa49c43f65560cfb8
http://www.scopus.com/inward/record.url?eid=2-s2.0-80052986271&partnerID=MN8TOARS

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

Autor: Van Schil K; Center for Medical Genetics Ghent University and Ghent University Hospital, Ghent, Belgium., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands 3Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Leroy BP; Center for Medical Genetics Ghent University and Ghent University Hospital, Ghent, Belgium 4Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium 5Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pott JW; Department of Ophthalmology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands., Bandah-Rozenfeld D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Zonneveld-Vrieling MN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., den Hollander AI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands 8Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 9Radboud Institute for Molecular Life Sciences, Radboud University Medica., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 9Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., De Baere E; Center for Medical Genetics Ghent University and Ghent University Hospital, Ghent, Belgium., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 9Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2015 Nov; Vol. 56 (12), pp. 7418-26.

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Autor: Beryozkin A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2013 Mar 01; Vol. 54 (3), pp. 2068-75. Date of Electronic Publication: 2013 Mar 01.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Autor: Zelinger L; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D

Publikováno v: American journal of human genetics [Am J Hum Genet] 2011 Feb 11; Vol. 88 (2), pp. 207-15. Date of Electronic Publication: 2011 Feb 03.

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

Autor: Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. banine@cc.huji.ac.il, Bandah-Rozenfeld D, Obolensky A, Cideciyan AV, Aleman TS, Marks-Ohana D, Sela M, Boye S, Sumaroka A, Roman AJ, Schwartz SB, Hauswirth WW, Jacobson SG, Hemo I, Sharon D

Publikováno v: Human gene therapy [Hum Gene Ther] 2010 Dec; Vol. 21 (12), pp. 1749-57. Date of Electronic Publication: 2010 Nov 03.