Nussbaum RL - Search Results

1

New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.

Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum RL. Schnur RE, et al. Among authors: nussbaum rl. Am J Hum Genet. 1989 Feb;44(2):248-54. Am J Hum Genet. 1989. PMID: 2563194 Free PMC article.

2

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL. Merry DE, et al. Among authors: nussbaum rl. Am J Hum Genet. 1989 Oct;45(4):530-40. Am J Hum Genet. 1989. PMID: 2491012 Free PMC article.

3

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL. Schnur RE, et al. Among authors: nussbaum rl. Am J Hum Genet. 1989 Nov;45(5):706-20. Am J Hum Genet. 1989. PMID: 2573275 Free PMC article.

4

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.

Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL. Reilly DS, et al. Among authors: nussbaum rl. Am J Hum Genet. 1988 May;42(5):748-55. Am J Hum Genet. 1988. PMID: 2895982 Free PMC article.

5

Isolation of a candidate gene for choroideremia.

Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL. Merry DE, et al. Among authors: nussbaum rl. Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135-9. doi: 10.1073/pnas.89.6.2135. Proc Natl Acad Sci U S A. 1992. PMID: 1549574 Free PMC article.

6

Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.

Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum RL. Schnur RE, et al. Among authors: nussbaum rl. Genomics. 1990 Oct;8(2):255-62. doi: 10.1016/0888-7543(90)90280-8. Genomics. 1990. PMID: 1979048 Free article.

7

DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation.

Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL. Merry DE, et al. Among authors: nussbaum rl. Genomics. 1990 Apr;6(4):609-15. doi: 10.1016/0888-7543(90)90494-f. Genomics. 1990. PMID: 2341150 Free article.

8

Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.

Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS, et al. Sosnoski DM, et al. Among authors: nussbaum rl. J Clin Invest. 1988 Jun;81(6):1993-8. doi: 10.1172/JCI113548. J Clin Invest. 1988. PMID: 2454952 Free PMC article.

9

Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia.

van Tuinen P, Johnson KR, Ledbetter SA, Nussbaum RL, Rovera G, Ledbetter DH. van Tuinen P, et al. Among authors: nussbaum rl. Oncogene. 1987;1(3):319-22. Oncogene. 1987. PMID: 2838781

10

Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male.

Ledbetter DH, Airhart SD, Nussbaum RL. Ledbetter DH, et al. Among authors: nussbaum rl. Am J Med Genet. 1986 Jan-Feb;23(1-2):429-43. doi: 10.1002/ajmg.1320230135. Am J Med Genet. 1986. PMID: 2937298

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