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Journal Abstract Search
174 related items for PubMed ID: 2220804
1. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B. Am J Hum Genet; 1990 Oct; 47(4):622-8. PubMed ID: 2220804 [Abstract] [Full Text] [Related]
2. 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. Proc Natl Acad Sci U S A; 1989 Oct; 86(19):7510-4. PubMed ID: 2798422 [Abstract] [Full Text] [Related]
3. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL. Genomics; 1990 Apr; 6(4):609-15. PubMed ID: 2341150 [Abstract] [Full Text] [Related]
4. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL. Am J Hum Genet; 1989 Oct; 45(4):530-40. PubMed ID: 2491012 [Abstract] [Full Text] [Related]
8. 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. Clin Genet; 1987 Dec; 32(6):421-3. PubMed ID: 3481306 [Abstract] [Full Text] [Related]
10. 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. Eur J Hum Genet; 1995 Dec; 3(4):207-18. PubMed ID: 8528669 [Abstract] [Full Text] [Related]
11. Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Schwartz M, Yang HM, Niebuhr E, Rosenberg T, Page DC. Hum Genet; 1988 Feb; 78(2):156-60. PubMed ID: 3422216 [Abstract] [Full Text] [Related]
12. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. Genomics; 1989 Jan; 4(1):41-6. PubMed ID: 2914708 [Abstract] [Full Text] [Related]
13. Cloning of a gene that is rearranged in patients with choroideraemia. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Nature; 1990 Oct 18; 347(6294):674-7. PubMed ID: 2215697 [Abstract] [Full Text] [Related]
14. Isolation of a candidate gene for choroideremia. Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL. Proc Natl Acad Sci U S A; 1992 Mar 15; 89(6):2135-9. PubMed ID: 1549574 [Abstract] [Full Text] [Related]
17. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM. Genomics; 1991 Oct 15; 11(2):263-72. PubMed ID: 1769646 [Abstract] [Full Text] [Related]
18. 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. Hum Mol Genet; 1994 Jul 15; 3(7):1041-6. PubMed ID: 7981670 [Abstract] [Full Text] [Related]
19. Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM. Hum Genet; 1987 Mar 15; 75(3):221-7. PubMed ID: 2881877 [Abstract] [Full Text] [Related]
20. Molecular characterization of eag: a gene affecting potassium channels in Drosophila melanogaster. Drysdale R, Warmke J, Kreber R, Ganetzky B. Genetics; 1991 Mar 15; 127(3):497-505. PubMed ID: 1901818 [Abstract] [Full Text] [Related] Page: [Next] [New Search]