Cremers FPM - Search Results

1

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, Aben M, Rebello G, Mead S, Raymond FL, Corominas J, Smith CEL, Kremer H, Downes S, Black GC, Webster AR, Inglehearn CF, van den Born LI, Koenekoop RK, Michaelides M, Ramesar RS, Hoyng CB, Mundlos S, Mhlanga MM, Cremers FPM, Cheetham ME, Roosing S, Hardcastle AJ. de Bruijn SE, et al. Among authors: cremers fpm. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5. Am J Hum Genet. 2020. PMID: 33022222 Free PMC article.

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

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.

4

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. Hum Genet. 1992 Nov;90(3):243-6. doi: 10.1007/BF00220070. Hum Genet. 1992. PMID: 1487237

5

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. Hum Genet. 1992 Aug;89(6):620-4. doi: 10.1007/BF00221950. Hum Genet. 1992. PMID: 1511979

6

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. Bach I, et al. Am J Hum Genet. 1992 Jul;51(1):38-44. Am J Hum Genet. 1992. PMID: 1609803 Free PMC article.

7

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

8

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Berger W, et al. Hum Genet. 1995 Jan;95(1):67-70. doi: 10.1007/BF00225077. Hum Genet. 1995. PMID: 7814029

9

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. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670

10

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

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