Gorski JL - Search Results

1

Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. Nesslinger NJ, et al. Among authors: gorski jl. Am J Hum Genet. 1994 Mar;54(3):464-72. Am J Hum Genet. 1994. PMID: 7906921 Free PMC article.

2

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.

Pasteris NG, Trask BJ, Sheldon S, Gorski JL. Pasteris NG, et al. Among authors: gorski jl. Hum Mol Genet. 1993 Jul;2(7):953-9. doi: 10.1093/hmg/2.7.953. Hum Mol Genet. 1993. PMID: 8103404

3

An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome.

Pasteris NG, Gorski JL. Pasteris NG, et al. Among authors: gorski jl. Hum Genet. 1995 Oct;96(4):494. doi: 10.1007/BF00191816. Hum Genet. 1995. PMID: 7557980 Free article.

4

Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.

Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. Flejter WL, et al. Among authors: gorski jl. Am J Med Genet. 1996 Jan 11;61(2):182-7. doi: 10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8669450

5

Bkm sequences from the human X chromosome contain large clusters of GATA/GACA repeats.

Erickson RP, Ross CE, Gorski JL, Stalvey JR, Drumm MM. Erickson RP, et al. Among authors: gorski jl. Ann Hum Genet. 1988 Jul;52(3):167-76. doi: 10.1111/j.1469-1809.1988.tb01094.x. Ann Hum Genet. 1988. PMID: 3250328 Free article.

6

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.

Gorski JL, Uhlmann WR, Glover TW. Gorski JL, et al. Am J Med Genet. 1990 Dec;37(4):471-4. doi: 10.1002/ajmg.1320370409. Am J Med Genet. 1990. PMID: 2260590 Free article. Review.

7

Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.

Gorski JL, Burright EN, Harnden CE, Stein CK, Glover TW, Reyner EL. Gorski JL, et al. Am J Hum Genet. 1991 Jan;48(1):53-64. Am J Hum Genet. 1991. PMID: 1985463 Free PMC article.

8

Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).

Gorski JL, Cox BA, Kyine M, Uhlmann W, Glover TW. Gorski JL, et al. Am J Med Genet. 1989 Mar;32(3):350-2. doi: 10.1002/ajmg.1320320315. Am J Med Genet. 1989. PMID: 2729355 Free article.

9

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.

Glover TW, Verga V, Rafael J, Barcroft C, Gorski JL, Bawle EV, Higgins JV. Glover TW, et al. Among authors: gorski jl. Hum Mol Genet. 1993 Oct;2(10):1717-8. doi: 10.1093/hmg/2.10.1717. Hum Mol Genet. 1993. PMID: 8268928 No abstract available.

10

CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

Martin DM, Sheldon S, Gorski JL. Martin DM, et al. Among authors: gorski jl. Am J Med Genet. 2001 Mar 1;99(2):115-9. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>3.0.co;2-8. Am J Med Genet. 2001. PMID: 11241468 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

70 results

Search Page

Filters