Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Elizabeth M. Rohlfs"'
Autor:
Louis Geller, Arlene Buller, Jean Amos Wilson, William Edward Highsmith, Kasinathan Muralidharan, Tina Sellers, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur, Lisa Edelmann, Leonard M. Holtegaard, Lisa V. Kalman, Lorraine Toji, John Dixon
Publikováno v:
The Journal of Molecular Diagnostics. 11:530-536
Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have reco
Autor:
Kerry Flynn, Paul Labrousse, Andrew M. Walker, Christopher Sears, Bernice A Allitto, Colin Donohoe, Elizabeth M. Rohlfs, Elaine A Sugarman, Leonid Boguslavskiy, Brant C. Hendrickson, Thomas Scholl, Viatcheslav R. Akmaev
Publikováno v:
Journal of Medical Genetics
Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature pl
Autor:
Michele Caggana, Elizabeth M. Rohlfs, Shannon D. Barker, Victoria M. Pratt, Kasinathan Muralidharan, W. Edward Highsmith, Lisa V. Kalman, Leonard M. Holtegaard, Christina Bridges, Jack Tarleton, Arlene Buller, Lorraine Toji, Lisa DiAntonio
Publikováno v:
The Journal of Molecular Diagnostics. 11:186-193
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in co
Autor:
Samantha Maragh, Monique A. Johnson, Elizabeth Berry-Kravis, Kristy L. Richie, Kasinathan Muralidharan, Frederick V. Schaefer, Tina Sellers, Lisa V. Kalman, Karla J. Matteson, Elaine B. Spector, James H. Handsfield, Brett Casey, Jeanne C. Beck, Elizabeth M. Rohlfs, Arlene Buller, Gerald L. Feldman, C. Sue Richards, John P. Jakupciak
Publikováno v:
Genetics in Medicine. 9:719-723
Purpose: Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control
Autor:
Daynna J. Wolff, Lawrence M. Silverman, Cecelia S. Hinkel, Patricia Charache, Elisabeth Dequeker, Jeanne C. Beck, Victoria M. Pratt, Elizabeth M. Rohlfs, Lisa V. Kalman, Ann M. Willey, Ira M. Lubin, William Edward Highsmith, Carolyn Sue Richards, David E. Barton, Bin Chen, Emily S. Winn-Deen, Elaine Lyon, Bassem A. Bejjani, Erasmus Schneider, Catherine D. O'Connell, Andrea Ferreira-Gonzalez, D. Joe Boone, Jean A. Amos, Kenneth J. Friedman, Roger V. Lebo, Wayne W. Grody, Daniel H. Farkas, Deborah A. Payne, Benjamin B. Roa, Laurina O. Williams, Michele Caggana, Clark A. Rundell, Dorothy R. Belloni, Maria M. Chan, James C. Willey, Susan H. Bernacki, Carol L. Greene
Publikováno v:
Genetics in Medicine. 7:534-549
Purpose: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials availa
Publikováno v:
Genetics in Medicine. 6:392-399
Purpose: We reviewed CFTR mutation distribution among Hispanic and African American individuals referred for CF carrier screening and compared mutation frequencies to those derived from CF patient samples. Methods: Results from CFTR mutation analyses
Autor:
Robert J. Desnick, Victoria M. Pratt, Michael S. Watson, Elizabeth M. Rohlfs, Glenn E. Palomaki, Wayne W. Grody, Michael T. Mennuti, C. Sue Richards, Garry R. Cutting, David R. Witt, Katherine W. Klinger, Charles M. Strom, Bradley W. Popovich, Deborah A. Driscoll
Publikováno v:
Genetics in Medicine
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Autor:
Gita P. Gidwani, Lorna S. Timmreck, Richard H. Reindollar, Bernice Allito, Elizabeth M. Rohlfs, Mark R. Gray, Ann J. Davis, Barbara Handelin
Publikováno v:
American Journal of Medical Genetics. :72-76
The relationship between cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations and congenital absence of the uterus and vagina (CAUV) was examined. CFTR mutations have previously been associated with congenital bilateral absence o
Autor:
Robert S. Sandler, Joseph A. Galanko, Temitope O. Keku, Christopher F. Martin, Laura B. Lawrence, Nicholas J. Shaheen, Elizabeth M. Rohlfs, Lawrence M. Silverman
Publikováno v:
JNCI Journal of the National Cancer Institute. 95:154-159
Background: Iron is a pro-oxidant that may promote carcinogenesis. Mutations in the hemochromatosis (HFE) gene are associated with increased total body iron stores in some individuals. We assessed the risk of colon cancer among individuals with and w
Autor:
Ruth A. Heim, Bernice A Allitto, Lawrence M. Silverman, Elizabeth M. Rohlfs, Elaine A Sugarman, Michael R. Knowles, Rhonda G. Pace, Zhaoqing Zhou
Publikováno v:
Genetics in Medicine. 4:319-323
Purpose: To determine whether CFTR intragenic changes modulate the cystic fibrosis (CF) phenotype in individuals who are positive for the I148T allele. Methods: The CFTR genes from individuals who carried at least one copy of the I148T allele were an