Amos JA - Search Results

1

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Phelan MC, Morton CC, Stevenson RE, Tanzi RE, Stewart GD, Watkins PC, Gusella JF, Amos JA. Phelan MC, et al. Among authors: amos ja. Am J Hum Genet. 1988 Oct;43(4):511-9. Am J Hum Genet. 1988. PMID: 2902789 Free PMC article.

2

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

Haines JL, Short MP, Kwiatkowski DJ, Jewell A, Andermann E, Bejjani B, Yang CH, Gusella JF, Amos JA. Haines JL, et al. Among authors: amos ja. Am J Hum Genet. 1991 Oct;49(4):764-72. Am J Hum Genet. 1991. PMID: 1897523 Free PMC article.

3

Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.

Amos JA, Fleming BC, Gusella JF, Jacoby LB. Amos JA, et al. Biochim Biophys Acta. 1984 Jul 18;782(3):247-53. doi: 10.1016/0167-4781(84)90059-9. Biochim Biophys Acta. 1984. PMID: 6733108

4

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al. Farrer LA, et al. Am J Hum Genet. 1992 May;50(5):902-13. Am J Hum Genet. 1992. PMID: 1349198 Free PMC article.

5

Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8.

Dean M, Amos JA, Lynch J, Romeo G, Devoto M, Ward K, Halley D, Oostra B, Ferrari M, Russo S, et al. Dean M, et al. Among authors: amos ja. Hum Genet. 1990 Aug;85(3):275-8. doi: 10.1007/BF00206745. Hum Genet. 1990. PMID: 1975555 Free article.

6

46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies.

Milunsky A, Huang X, Amos JA, Herskowitz J, Farrer LA, Wyandt HE. Milunsky A, et al. Among authors: amos ja. Am J Med Genet. 1993 Mar 1;45(5):589-93. doi: 10.1002/ajmg.1320450514. Am J Med Genet. 1993. PMID: 8096117

7

Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.

Bieber FR, Hoffman EP, Amos JA. Bieber FR, et al. Among authors: amos ja. Am J Hum Genet. 1989 Sep;45(3):362-7. Am J Hum Genet. 1989. PMID: 2672800 Free PMC article.

8

Minimum qualifications for directors: DNA-based genetic-testing laboratories. DNA Testing Subcommittee, Quality Assurance Committee, Council of Regional Networks for Genetic Services.

Murphy P, Amos J, Carpenter N, Fenwick R, Hodes ME, Kelly T, Matteson K, Seltzer W, Spence JE, Thibodeau S, et al. Murphy P, et al. Am J Hum Genet. 1992 Oct;51(4):910-2. Am J Hum Genet. 1992. PMID: 1415239 Free PMC article. No abstract available.

9

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. Baldwin CT, et al. Among authors: amos ja. Nature. 1992 Feb 13;355(6361):637-8. doi: 10.1038/355637a0. Nature. 1992. PMID: 1347149

10

Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis.

Dean M, O'Connell P, Leppert M, Park M, Amos JA, Phillips DG, White R, Vande Woude GF. Dean M, et al. Among authors: amos ja. J Pediatr. 1987 Oct;111(4):490-5. doi: 10.1016/s0022-3476(87)80106-3. J Pediatr. 1987. PMID: 2888841 Free article.

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