Schnur RE - Search Results

1

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

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

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.

4

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.

5

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.

Neidich JA, Whitaker LA, Natowicz M, McDonald DM, Schnur R, Zackai EH. Neidich JA, et al. Am J Med Genet Suppl. 1988;4:161-6. doi: 10.1002/ajmg.1320310516. Am J Med Genet Suppl. 1988. PMID: 3144983

6

Thrombocytopenia with absent radius in a boy and his uncle.

Schnur RE, Eunpu DL, Zackai EH. Schnur RE, et al. Am J Med Genet. 1987 Sep;28(1):117-23. doi: 10.1002/ajmg.1320280117. Am J Med Genet. 1987. PMID: 3314504 Review.

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

Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia.

Cirillo-Hyland VA, Zackai EH, Honig PJ, Grace KR, Schnur RE. Cirillo-Hyland VA, et al. Among authors: schnur re. J Am Acad Dermatol. 1995 Feb;32(2 Pt 2):315-8. doi: 10.1016/0190-9622(95)90394-1. J Am Acad Dermatol. 1995. PMID: 7829732

9

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA. Lee ST, et al. Among authors: schnur re. Hum Mol Genet. 1994 Nov;3(11):2047-51. Hum Mol Genet. 1994. PMID: 7874125

10

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.

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