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Brown, Amanda S; Gwinn, Marta; Cogswell, Mary E; Khoury, Muin J
doi: 10.1097/00125817-200103000-00004pmid: 11280947
Purpose: The recent discovery of the HFE gene and its association with hereditary hemochromatosis has renewed the attention directed to iron-overload diseases. Population screening for hereditary hemochromatosis is under debate, and population-based estimates of morbidity associated with hereditary hemochromatosis are needed. The purpose of this study is to estimate the number of hemochromatosis-associated hospitalizations in the United States using a population-based dataset.
Velicer, Christine M; Taplin, Stephen
doi: 10.1097/00125817-200103000-00005pmid: 11280948
Purpose: To identify BRCA1/2 knowledge, genetic testing intentions, and communication patterns in breast cancer survivors (survivors).
Jenkins, Jean; Blitzer, Miriam; Boehm, Karina; Feetham, Suzanne; Gettig, Elizabeth; Johnson, Ann; Lapham, E Virginia; Patenaude, Andrea Farkas; Reynolds, P Preston; Guttmacher, Alan E
doi: 10.1097/00125817-200103000-00011pmid: 11280953
Gripp, Karen W; Kasparcova, Viera; McDonald-McGinn, Donna M; Bhatt, Sucheta; Bartlett, Scott P; Storm, Andrea L; Drumheller, Timothy C; Emanuel, Beverly S; Zackai, Elaine H; Stolle, Catherine A
doi: 10.1097/00125817-200103000-00003pmid: 11280946
Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome.
Amalfitano, Andrea; Bengur, A. Resai; Morse, Richard P.; Majure, Joseph M.; Case, Laura E.; Veerling, Deborah L.; Mackey, Joanne; Kishnani, Priya; Smith, Wendy; McVie-Wylie, Alison; Sullivan, Jennifer A.; Hoganson, George E.; Phillips, John A.; Schaefer, G. Bradley; Charrow, Joel; Ware, Russell E.; Bossen, Edward H.; Chen, Yuan-Tsong
doi: 10.1038/gim200127pmid: N/A
Purpose: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid α-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzyme therapy for this fatal disorder.
Tuck-Muller, Cathy M; Goodman, Barbara K; Li, Shibo; Martinez, José; Chen, Xiao-Ning; Wertelecki, Wladimir; Korenberg, Julie R; Stetten, Gail
doi: 10.1097/00125817-200103000-00007pmid: 11280950
Purpose: To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs).
Barlow, Gillian M; Chen, Xiao-Ning; Shi, Zheng Y; Lyons, Gary E; Kurnit, David M; Celle, Livija; Spinner, Nancy B; Zackai, Elaine; Pettenati, Mark J; Van Riper, Alexander J; Vekemans, Michael J; Mjaatvedt, Corey H; Korenberg, Julie R
doi: 10.1097/00125817-200103000-00002pmid: 11280955
Purpose: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular septal defects (AVSDs). Molecular studies of rare individuals with CHD and partial duplications of chromosome 21 established a candidate region that included D21S55 through the telomere. We now report human molecular and cardiac data that narrow the DS-CHD region, excluding two candidate regions, and propose DSCAM (Down syndrome cell adhesion molecule) as a candidate gene.
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