Amos J - Search Results

1

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. Among authors: amos j. Am J Hum Genet. 1992 May;50(5):902-13. Am J Hum Genet. 1992. PMID: 1349198 Free PMC article.

2

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

3

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.

4

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.

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

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.

7

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

8

Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.

Haines JL, Amos J, Attwood J, Bech-Hansen NT, Burley M, Conneally PM, Connor JM, Fahsold R, Flodman P, Fryer A, et al. Haines JL, et al. Among authors: amos j. Ann N Y Acad Sci. 1991;615:256-64. doi: 10.1111/j.1749-6632.1991.tb37767.x. Ann N Y Acad Sci. 1991. PMID: 1674844 Clinical Trial.

9

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).

Bejjani B, Finn P, Milunsky A, Amos J. Bejjani B, et al. Among authors: amos j. Clin Genet. 1991 Apr;39(4):245-52. doi: 10.1111/j.1399-0004.1991.tb03022.x. Clin Genet. 1991. PMID: 2070545

10

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Anguiano A, et al. Among authors: amos ja. JAMA. 1992 Apr 1;267(13):1794-7. JAMA. 1992. PMID: 1545465

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