Schnur RE - Search Results

1

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

2

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.

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

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

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

8

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Fukai K, et al. Among authors: schnur re. Nat Genet. 1995 Jan;9(1):92-5. doi: 10.1038/ng0195-92. Nat Genet. 1995. PMID: 7704033

9

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

10

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

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