C
Cheryl R. Greenberg
Researcher at University of Manitoba
Publications - 152
Citations - 11981
Cheryl R. Greenberg is an academic researcher from University of Manitoba. The author has contributed to research in topics: Population & Newborn screening. The author has an hindex of 48, co-authored 151 publications receiving 11192 citations. Previous affiliations of Cheryl R. Greenberg include Winnipeg Regional Health Authority & University of Iowa.
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Journal ArticleDOI
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Gisèle Bonne,M R Di Barletta,S. Varnous,H.M. Bécane,EL-Hadi Hammouda,Luciano Merlini,Francesco Muntoni,Cheryl R. Greenberg,Françoise Gary,Jon Andoni Urtizberea,Denis Duboc,Michel Fardeau,Daniela Toniolo,Ketty Schwartz +13 more
TL;DR: This work has mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus, and identified four mutations in LMNA that co-segregate with the disease phenotype in the five families.
Journal Article
The molecular basis for duchenne versus becker muscular dystrophy: correlation of severity with type of deletion
M. Koenig,Alan H. Beggs,M. Moyer,S. Scherpf,K. Heindrich,T. Bettecken,G Meng,C. R. Müller,M. Lindlöf,H. Kaariainen,A. de la Chapelle,A. Kiuru,M.-L. Savontaus,H. Gilgenkrantz,D. Récan,J. Chelly,Jean-Claude Kaplan,A. E. Covone,N. Archidiacono,Giovanni Romeo,S. Liechti-Gallati,V. Schneider,Suzanne Braga,H. Moser,Basil T. Darras,Patricia E. Murphy,Uta Francke,J. D. Chen,Graeme Morgan,Margaret Denton,Cheryl R. Greenberg,Klaus Wrogemann,L. A. J. Blonden,H.M.B. van Paassen,G.J.B. van Ommen,Louis M. Kunkel +35 more
TL;DR: The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
Journal ArticleDOI
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Michael L. Nickerson,Michelle B. Warren,Jorge R. Toro,Vera Y. Matrosova,Gladys Glenn,Maria L. Turner,Paul H. Duray,Maria J. Merino,Peter L. Choyke,Christian P. Pavlovich,Nirmala Sharma,McClellan M. Walther,David J. Munroe,Robert Hill,Eamonn R. Maher,Cheryl R. Greenberg,Michael I. Lerman,W. Marston Linehan,Berton Zbar,Laura S. Schmidt +19 more
TL;DR: Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development.
Journal ArticleDOI
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.
Charles A. Stanley,Yen K. Lieu,Betty Y.L. Hsu,Alberto Burlina,Cheryl R. Greenberg,Nancy J. Hopwood,Kusiel Perlman,Barry H. Rich,Enrico Zammarchi,Mortimer Poncz +9 more
TL;DR: The hyperinsulinism-hyperammonemia syndrome is caused by mutations in the glutamate dehydrogenase gene that impair the control of enzyme activity, consistent with overactivity of the enzyme.
Journal Article
Risk of Renal and Colonic Neoplasms and Spontaneous Pneumothorax in the Birt-Hogg-Dubé Syndrome
Berton Zbar,W. Gregory Alvord,Gladys Glenn,Maria L. Turner,Christian P. Pavlovich,Laura S. Schmidt,McClellan M. Walther,Peter L. Choyke,Gregor Weirich,Stephen M. Hewitt,Paul H. Duray,Fathia Gabril,Cheryl R. Greenberg,Maria J. Merino,Jorge R. Toro,W. Marston Linehan +15 more
TL;DR: The Birt-Hogg-Dubé syndrome confers an increased risk for the development of renal tumors and spontaneous pneumothorax and was found to be associated with renal and colonic neoplasms and spontaneous pneumonia.