Blanton SH - Search Results

1

Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.

Yee RW, Sullivan LS, Lai HT, Stock EL, Lu Y, Khan MN, Blanton SH, Daiger SP. Yee RW, et al. Among authors: blanton sh. Genomics. 1997 Nov 15;46(1):152-4. doi: 10.1006/geno.1997.5028. Genomics. 1997. PMID: 9403072

2

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP. Blanton SH, et al. Genomics. 1991 Dec;11(4):857-69. doi: 10.1016/0888-7543(91)90008-3. Genomics. 1991. PMID: 1783394

3

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

Blanton SH, Cottingham AW, Giesenschlag N, Heckenlively JR, Humphries P, Daiger SP. Blanton SH, et al. Genomics. 1990 Sep;8(1):179-81. doi: 10.1016/0888-7543(90)90243-n. Genomics. 1990. PMID: 2081594

4

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP. McGuire RE, et al. Among authors: blanton sh. Am J Hum Genet. 1995 Jul;57(1):87-94. Am J Hum Genet. 1995. PMID: 7611300 Free PMC article.

5

Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.

Hecht JT, Wang Y, Connor B, Blanton SH, Daiger SP. Hecht JT, et al. Among authors: blanton sh. Am J Hum Genet. 1993 Jun;52(6):1230-3. Am J Hum Genet. 1993. PMID: 8099257 Free PMC article.

6

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: blanton sh. Hum Mol Genet. 2002 Mar 1;11(5):559-68. doi: 10.1093/hmg/11.5.559. Hum Mol Genet. 2002. PMID: 11875050 Free PMC article.

7

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Sullivan LS, et al. Among authors: blanton sh. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440. Invest Ophthalmol Vis Sci. 2006. PMID: 17003455 Free PMC article.

8

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP. Koboldt DC, et al. Among authors: blanton sh. Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20. Am J Hum Genet. 2014. PMID: 24560519 Free PMC article.

9

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG. Daiger SP, et al. Among authors: blanton sh. Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26. Adv Exp Med Biol. 2016. PMID: 26427411 Free PMC article.

10

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.

Bowne SJ, Sullivan LS, Wheaton DK, Locke KG, Jones KD, Koboldt DC, Fulton RS, Wilson RK, Blanton SH, Birch DG, Daiger SP. Bowne SJ, et al. Among authors: blanton sh. Mol Vis. 2016 Oct 17;22:1239-1247. eCollection 2016. Mol Vis. 2016. PMID: 27777503 Free PMC 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

218 results

Search Page

Filters