Touchman JW - Search Results

1

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Anikster Y, et al. Among authors: touchman jw. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

2

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. Touchman JW, et al. Genome Res. 2000 Feb;10(2):165-73. doi: 10.1101/gr.10.2.165. Genome Res. 2000. PMID: 10673275 Free PMC article.

3

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: touchman jw. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

4

Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and human.

Southard-Smith EM, Collins JE, Ellison JS, Smith KJ, Baxevanis AD, Touchman JW, Green ED, Dunham I, Pavan WJ. Southard-Smith EM, et al. Among authors: touchman jw. Mamm Genome. 1999 Jul;10(7):744-9. doi: 10.1007/s003359901083. Mamm Genome. 1999. PMID: 10384052 No abstract available.

5

Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED. DeSilva U, et al. Among authors: touchman jw. Genome Res. 2002 Jan;12(1):3-15. doi: 10.1101/gr.214802. Genome Res. 2002. PMID: 11779826 Free PMC article.

6

A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

Bouffard GG, Idol JR, Braden VV, Iyer LM, Cunningham AF, Weintraub LA, Touchman JW, Mohr-Tidwell RM, Peluso DC, Fulton RS, Ueltzen MS, Weissenbach J, Magness CL, Green ED. Bouffard GG, et al. Among authors: touchman jw. Genome Res. 1997 Jul;7(7):673-92. doi: 10.1101/gr.7.7.673. Genome Res. 1997. PMID: 9253597 Free article.

7

An effective approach for analyzing "prefinished" genomic sequence data.

Kuehl PM, Weisemann JM, Touchman JW, Green ED, Boguski MS. Kuehl PM, et al. Among authors: touchman jw. Genome Res. 1999 Feb;9(2):189-94. Genome Res. 1999. PMID: 10022984 Free PMC article.

8

The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants.

Zhang J, Kuehl P, Green ED, Touchman JW, Watkins PB, Daly A, Hall SD, Maurel P, Relling M, Brimer C, Yasuda K, Wrighton SA, Hancock M, Kim RB, Strom S, Thummel K, Russell CG, Hudson JR Jr, Schuetz EG, Boguski MS. Zhang J, et al. Among authors: touchman jw. Pharmacogenetics. 2001 Oct;11(7):555-72. doi: 10.1097/00008571-200110000-00003. Pharmacogenetics. 2001. PMID: 11668216

9

2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries.

Touchman JW, Bouffard GG, Weintraub LA, Idol JR, Wang L, Robbins CM, Nussbaum JC, Lovett M, Green ED. Touchman JW, et al. Genome Res. 1997 Mar;7(3):281-92. doi: 10.1101/gr.7.3.281. Genome Res. 1997. PMID: 9074931 Free article.

10

Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes.

Ellsworth RE, Jamison DC, Touchman JW, Chissoe SL, Braden Maduro VV, Bouffard GG, Dietrich NL, Beckstrom-Sternberg SM, Iyer LM, Weintraub LA, Cotton M, Courtney L, Edwards J, Maupin R, Ozersky P, Rohlfing T, Wohldmann P, Miner T, Kemp K, Kramer J, Korf I, Pepin K, Antonacci-Fulton L, Fulton RS, Minx P, Hillier LW, Wilson RK, Waterston RH, Miller W, Green ED. Ellsworth RE, et al. Among authors: touchman jw. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1172-7. doi: 10.1073/pnas.97.3.1172. Proc Natl Acad Sci U S A. 2000. PMID: 10655503 Free PMC article.

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