Pawlowitzki IH - Search Results

1

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

2

Prenatal exclusion of choroideremia.

van den Hurk JA, van Zandvoort PM, Brunsmann F, Pawlowitzki IH, Holzgreve W, Szabo P, Cremers FP, van Oost BA. van den Hurk JA, et al. Among authors: pawlowitzki ih. Am J Med Genet. 1992 Dec 1;44(6):822-3. doi: 10.1002/ajmg.1320440621. Am J Med Genet. 1992. PMID: 1362326

3

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: pawlowitzki ih. Am J Hum Genet. 1992 Jun;50(6):1195-202. Am J Hum Genet. 1992. PMID: 1598901 Free PMC article.

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

5

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: pawlowitzki ih. 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.

6

Choroideremia-locus maps between DXS3 and DXS11 on Xq.

Gal A, Brunsmann F, Hogenkamp D, Rüther K, Ahlert D, Wienker TF, Hammerstein W, Pawlowitzki IH. Gal A, et al. Among authors: pawlowitzki ih. Hum Genet. 1986 Jun;73(2):123-6. doi: 10.1007/BF00291600. Hum Genet. 1986. PMID: 3755117

7

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki IH, Sankila EM, et al. van Bokhoven H, et al. Among authors: pawlowitzki ih. Hum Mol Genet. 1994 Jul;3(7):1047-51. doi: 10.1093/hmg/3.7.1047. Hum Mol Genet. 1994. PMID: 7981671

8

Acceptability of prenatal diagnosis for retinitis pigmentosa.

Pawlowitzki IH, Rüther K, Brunsmann F, von Gizycki R. Pawlowitzki IH, et al. Lancet. 1986 Dec 13;2(8520):1394-5. doi: 10.1016/s0140-6736(86)92033-7. Lancet. 1986. PMID: 2878250 No abstract available.

9

Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the nonfluorescent Y chromosome.

Gänshirt-Ahlert D, Pawlowitzki IH, Gal A. Gänshirt-Ahlert D, et al. Among authors: pawlowitzki ih. Hum Genet. 1987 Jun;76(2):153-6. doi: 10.1007/BF00284913. Hum Genet. 1987. PMID: 2886420

10

Quantification of C-band polymorphisms by centromeric elevations (Ce-bands).

Wegner H, Pawlowitzki IH. Wegner H, et al. Among authors: pawlowitzki ih. Hum Genet. 1981;58(3):302-5. doi: 10.1007/BF00294928. Hum Genet. 1981. PMID: 7327551 No abstract available.

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