Ropers HH - Search Results

1

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: ropers hh. Clin Genet. 1987 Dec;32(6):421-3. doi: 10.1111/j.1399-0004.1987.tb03166.x. Clin Genet. 1987. PMID: 3481306

2

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: ropers hh. Am J Hum Genet. 1988 Oct;43(4):452-61. Am J Hum Genet. 1988. PMID: 3177387 Free PMC article.

3

Cloning and characterization of the human choroideremia gene.

van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: ropers hh. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

4

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: ropers hh. 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.

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: ropers hh. Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199. Nat Genet. 1992. PMID: 1303235

6

Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.

Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP. Bach I, et al. Among authors: ropers hh. Hum Genet. 1992 Aug;89(6):620-4. doi: 10.1007/BF00221950. Hum Genet. 1992. PMID: 1511979

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. Among authors: ropers hh. 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

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: ropers hh. Hum Genet. 1990 Nov;86(1):61-4. doi: 10.1007/BF00205174. Hum Genet. 1990. PMID: 1979308

9

Cloning of a gene that is rearranged in patients with choroideraemia.

Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cremers FP, et al. Among authors: ropers hh. Nature. 1990 Oct 18;347(6294):674-7. doi: 10.1038/347674a0. Nature. 1990. PMID: 2215697

10

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Cremers FP, et al. Among authors: ropers hh. Proc Natl Acad Sci U S A. 1989 Oct;86(19):7510-4. doi: 10.1073/pnas.86.19.7510. Proc Natl Acad Sci U S A. 1989. PMID: 2798422 Free PMC article.

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