R
Raymond G. Fenwick
Researcher at Baylor College of Medicine
Publications - 24
Citations - 5132
Raymond G. Fenwick is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Myotonic dystrophy & Allele. The author has an hindex of 17, co-authored 24 publications receiving 5019 citations. Previous affiliations of Raymond G. Fenwick include Howard Hughes Medical Institute.
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Journal ArticleDOI
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Maura Pieretti,James S. Sutcliffe,James S. Sutcliffe,Stephen Richards,Annemieke J.M.H. Verkert,Jeanette J. A. Holden,Raymond G. Fenwick,Stephen T. Warren,Stephen T. Warren,Ben A. Oostra,David L. Nelson,C. Thomas Caskey +14 more
TL;DR: The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
Journal ArticleDOI
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
Ying-Hui Fu,Antonio Pizzuti,Raymond G. Fenwick,Jonathan King,S. Rajnarayan,Patrick W. Dunne,J. Dubel,G. A. Nasser,Tetsuo Ashizawa,P. de Jong,Bé Wieringa,R. G. Korneluk,M. B. Perryman,Henry F. Epstein,C. Thomas Caskey +14 more
TL;DR: These studies suggest that the mutational mechanism leading to DM is triplet amplification, similar to that occurring in the fragile X syndrome.
Journal ArticleDOI
Triplet Repeat Mutations in Human Disease
TL;DR: This newly identified mechanism of mutation has been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA.
Journal ArticleDOI
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
Ying-Hui Fu,David L. Friedman,Stephen Richards,Pearlman Ja,R. A. Gibbs,Antonio Pizzuti,Tetsuo Ashizawa,Perryman Mb,Guglielmo Scarlato,Raymond G. Fenwick +9 more
TL;DR: Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.
Journal Article
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
P. R. Clemens,Raymond G. Fenwick,Jeffrey S. Chamberlain,R. A. Gibbs,M. De Andrade,Ranajit Chakraborty,Charles T. Caskey +6 more
TL;DR: To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene are determined.