J
Jacquie Greenberg
Researcher at University of Cape Town
Publications - 76
Citations - 2926
Jacquie Greenberg is an academic researcher from University of Cape Town. The author has contributed to research in topics: Retinitis pigmentosa & Population. The author has an hindex of 26, co-authored 76 publications receiving 2710 citations. Previous affiliations of Jacquie Greenberg include Groote Schuur Hospital & Boys Town.
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Journal ArticleDOI
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
AB McKie,John C. McHale,T. Jeffrey Keen,Emma E. Tarttelin,Rene Goliath,Janneke J.C. van Lith-Verhoeven,Jacquie Greenberg,Rajkumar Ramesar,Carel B. Hoyng,Frans P.M. Cremers,David A. Mackey,Shomi S. Bhattacharya,Alan C. Bird,Alexander F. Markham,Chris F. Inglehearn +14 more
TL;DR: Seven different missense mutations in the splicing factor gene PRPC8 in adRP families offer compelling evidence for a novel pathway to retinal degeneration.
Journal ArticleDOI
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent
H Telenius,H.P.H. Kremer,J. Thellmann,S E Andrew,E. Almqvist,Maria Anvret,Cheryl R. Greenberg,Jacquie Greenberg,Gerard Lucotte,F. Squltierl,A. Starr,Y P Goldberg,Michael R. Hayden +12 more
TL;DR: It is demonstrated that the sex of transmitting parent is the major influence on trinucleotide expansion and clinical features in juvenile Huntington disease.
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CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness
Lisa M. Astuto,Julie M. Bork,Michael D. Weston,J.W. Askew,Randall R. Fields,Dana J. Orten,S.J. Ohliger,Saima Riazuddin,Robert J. Morell,Shahid Niaz Khan,Hannie Kremer,P. van Hauwe,Claes Möller,C.W.R.J. Cremers,Carmen Ayuso,John R. Heckenlively,Klaus Rohrschneider,Ulrich H. M. Spandau,Jacquie Greenberg,Rajkumar Ramesar,Willie Reardon,Pierre Bitoun,JM Millán,R. Legge,Thomas B. Friedman,William J. Kimberling +25 more
TL;DR: Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina.
Journal ArticleDOI
The Guanine-Thymine Dinucleotide Repeat Polymorphism Within the Tenascin-C Gene Is Associated With Achilles Tendon Injuries
Gaonyadiwe G. Mokone,Mamta Gajjar,Alison V. September,Martin Schwellnus,Jacquie Greenberg,Timothy D. Noakes,Malcolm Collins +6 more
TL;DR: People who have variants of the tenascin-C gene with 12 and 14 guanine-thymine repeats appear to have a 6-fold risk of developing Achilles tendon injuries.
Journal ArticleDOI
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
William J. Kimberling,Claes Möller,S. Davenport,I. A. Priluck,Peter Beighton,Jacquie Greenberg,William Reardon,Michael D. Weston,J. B. Kenyon,J. A. Grunkemeyer,S. Pieke Dahl,L. D. Overbeck,D. J. Blackwood,A. M. Brower,Denise M. Hoover,P. Rowland,Richard J.H. Smith +16 more
TL;DR: This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527, and this second localization establishes the existence of a new and independent locus forUsher syndrome.