Cremers FP - Search Results

1

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Schwahn U, et al. Among authors: cremers fp. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692

2

An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.

Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH. Cremers FP, et al. Hum Mol Genet. 1992 May;1(2):71-5. doi: 10.1093/hmg/1.2.71. Hum Mol Genet. 1992. PMID: 1301160

3

Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A. Sankila EM, et al. Among authors: cremers fp. Nat Genet. 1992 May;1(2):109-13. doi: 10.1038/ng0592-109. Nat Genet. 1992. PMID: 1302003

4

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

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, Warburgh M, et al. Berger W, et al. Among authors: cremers fp. Nat Genet. 1992 Sep;2(1):84. doi: 10.1038/ng0992-84a. Nat Genet. 1992. PMID: 1303256 No abstract available.

6

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.

Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F, et al. Meindl A, et al. Nat Genet. 1992 Oct;2(2):139-43. doi: 10.1038/ng1092-139. Nat Genet. 1992. PMID: 1303264

7

Mutations in the candidate gene for Norrie disease.

Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Berger W, et al. Hum Mol Genet. 1992 Oct;1(7):461-5. doi: 10.1093/hmg/1.7.461. Hum Mol Genet. 1992. PMID: 1307245 Review.

8

Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Traupe H, Müller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH. Traupe H, et al. Among authors: cremers fp. Hum Genet. 1992 Aug;89(6):659-65. doi: 10.1007/BF00221958. Hum Genet. 1992. PMID: 1355069

9

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: cremers fp. 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.

10

Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome.

Berger W, Meindl A, de Leeuw B, de Roos A, van de Pol TJ, Meitinger T, van der Velde-Visser SD, Achatz H, Geurts van Kessel A, Cremers FP, et al. Berger W, et al. Among authors: cremers fp. Hum Genet. 1992 Nov;90(3):243-6. doi: 10.1007/BF00220070. Hum Genet. 1992. PMID: 1487237

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