Schnur RE - Search Results

1

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. Am J Hum Genet. 1989 Nov;45(5):706-20. Am J Hum Genet. 1989. PMID: 2573275 Free PMC article.

2

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Rose NC, et al. Among authors: schnur re. Am J Med Genet. 1992 Mar 1;42(5):700-5. doi: 10.1002/ajmg.1320420515. Am J Med Genet. 1992. PMID: 1632442

3

Linkage analysis in X-linked ocular albinism.

Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Schnur RE, et al. Genomics. 1991 Apr;9(4):605-13. doi: 10.1016/0888-7543(91)90353-g. Genomics. 1991. PMID: 1674724

4

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. Genomics. 1990 Oct;8(2):255-62. doi: 10.1016/0888-7543(90)90280-8. Genomics. 1990. PMID: 1979048 Free article.

5

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. Am J Hum Genet. 1989 Feb;44(2):248-54. Am J Hum Genet. 1989. PMID: 2563194 Free PMC article.

6

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Pellegrino JE, Schnur RE, Kline R, Zackai EH, Spinner NB. Pellegrino JE, et al. Among authors: schnur re. Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977

7

Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).

Schnur RE, Wick PA. Schnur RE, et al. Hum Genet. 1995 May;95(5):594-5. doi: 10.1007/BF00223880. Hum Genet. 1995. PMID: 7759088

8

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

Schnur RE, Wick PA, Bailey C, Rebbeck T, Weleber RG, Wagstaff J, Grix AW, Pagon RA, Hockey A, Edwards MJ. Schnur RE, et al. Am J Hum Genet. 1994 Sep;55(3):484-96. Am J Hum Genet. 1994. PMID: 7915878 Free PMC article.

9

Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region.

Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL. Schnur RE, et al. Genomics. 1993 Mar;15(3):500-6. doi: 10.1006/geno.1993.1100. Genomics. 1993. PMID: 8468044 Free article.

10

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, Stump T, Grace K, Zackai EH. Pellegrino JE, et al. Among authors: schnur re. Hum Genet. 1996 Apr;97(4):532-6. doi: 10.1007/BF02267081. Hum Genet. 1996. PMID: 8834257

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