Core - Amish Population Genetics Resource

Bias, Wilma B.

Abstract

Core III is designed to maintain genealogical and demographic records on the total Old Order Amish population of Lancaster, Pennsylvania; to provide field worker assistance in the study of this population; and specifically to obtain DNA and lymphoblastoid cell lines from members of three generation families as well as from nuclear and extended families in which genetic disease are segregating.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of General Medical Sciences (NIGMS)
• Type: Research Program Projects (P01)
• Project #: 1P01GM041015-01
• Application #: 3919182
• Support Year: 1
• Fiscal Year: 1988

Institution

• Name: Johns Hopkins University
• DUNS #: 045911138
• City: Baltimore
• State: MD
• Country: United States
• Zip Code: 21218

Publications

Pyeritz, R E (1993) Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations. Semin Thorac Cardiovasc Surg 5:11-6

DiLella, A G; Hawkins, A; Craig, R J et al. (1992) Chromosomal band assignments of the genes encoding human FKBP12 and FKBP13. Biochem Biophys Res Commun 189:819-23

Amelung, P J; Panhuysen, C I; Postma, D S et al. (1992) Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p. Clin Exp Allergy 22:1077-84

Dietz, H C; Pyeritz, R E; Puffenberger, E G et al. (1992) Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-80

Dietz, H C; Saraiva, J M; Pyeritz, R E et al. (1992) Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1:366-74

Montrose-Rafizadeh, C; Blackmon, D L; Hamosh, A et al. (1992) Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium. J Biol Chem 267:19299-305

Jabs, E W; Coss, C A; Hayflick, S J et al. (1991) Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics 11:188-92

Petersen, M B; Adelsberger, P A; Schinzel, A A et al. (1991) Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal. Am J Hum Genet 49:529-36

Dietz, H C; Pyeritz, R E; Hall, B D et al. (1991) The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 9:355-61

Joziasse, D H; Shaper, N L; Shaper, J H et al. (1991) Gene for murine alpha 1----3-galactosyltransferase is located in the centromeric region of chromosome 2. Somat Cell Mol Genet 17:201-5