van de Pol TJ - Search Results

1

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van de pol tj. Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D. Hum Mutat. 1997. PMID: 9067750 Free article. Review.

2

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

van den Hurk JA, van de Pol TJ, Molloy CM, Brunsmann F, Rüther K, Zrenner E, Pinckers AJ, Pawlowitzki IH, Bleeker-Wagemakers EM, Wieringa B, et al. van den Hurk JA, et al. Among authors: van de pol tj. Am J Hum Genet. 1992 Jun;50(6):1195-202. Am J Hum Genet. 1992. PMID: 1598901 Free PMC article.

3

Cloning of the breakpoints of a deletion associated with choroidermia.

Cremers FP, Brunsmann F, Berger W, van Kerkhoff EP, van de Pol TJ, Wieringa B, Pawlowitzki IH, Ropers HH. Cremers FP, et al. Among authors: van de pol tj, van kerkhoff ep. Hum Genet. 1990 Nov;86(1):61-4. doi: 10.1007/BF00205174. Hum Genet. 1990. PMID: 1979308

4

Deletion of the DXS165 locus in patients with classical choroideremia.

Cremers FP, Brunsmann F, van de Pol TJ, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers HH. Cremers FP, et al. Among authors: van de pol tj. Clin Genet. 1987 Dec;32(6):421-3. doi: 10.1111/j.1399-0004.1987.tb03166.x. Clin Genet. 1987. PMID: 3481306

5

Isolation of a candidate gene for Norrie disease by positional cloning.

Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M, et al. Berger W, et al. Among authors: van de pol tj. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

6

Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.

Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP. Molloy CM, et al. Among authors: van de pol tj. Nucleic Acids Res. 1992 Mar 25;20(6):1434. doi: 10.1093/nar/20.6.1434. Nucleic Acids Res. 1992. PMID: 1373238 Free PMC article. No abstract available.

7

Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.

van de Pol TJ, Cremers FP, Brohet RM, Wieringa B, Ropers HH. van de Pol TJ, et al. Nucleic Acids Res. 1990 Feb 25;18(4):725-31. doi: 10.1093/nar/18.4.725. Nucleic Acids Res. 1990. PMID: 1969148 Free PMC article.

8

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Cremers FP, van de Pol TJ, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HH. Cremers FP, et al. Among authors: van de pol tj. Am J Hum Genet. 1988 Oct;43(4):452-61. Am J Hum Genet. 1988. PMID: 3177387 Free PMC article.

9

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

van der Maarel SM, Scholten IH, Maat-Kievit JA, Huber I, de Kok YJ, de Wijs I, van de Pol TJ, van Bokhoven H, den Dunnen JT, van Ommen GJ, et al. van der Maarel SM, et al. Among authors: van de pol tj. Eur J Hum Genet. 1995;3(4):207-18. doi: 10.1159/000472301. Eur J Hum Genet. 1995. PMID: 8528669

10

Genetic fine mapping of the gene for recessive Stargardt disease.

Hoyng CB, Poppelaars F, van de Pol TJ, Kremer H, Pinckers AJ, Deutman AF, Cremers FP. Hoyng CB, et al. Among authors: van de pol tj. Hum Genet. 1996 Oct;98(4):500-4. doi: 10.1007/s004390050247. Hum Genet. 1996. PMID: 8792830 Free article.

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