| 1 | CHM
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| Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium.
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| Gordiyenko NV, Fariss RN, Zhi C, MacDonald IM.
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| Invest Ophthalmol Vis Sci. 51(2):1143-50. 2010
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| 2 | CHM
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| New type of mutations in three spanish families with choroideremia.
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| Garcia-Hoyos M, Lorda-Sanchez I, G—mez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C.
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| Invest Ophthalmol Vis Sci 49(4):1315-21. 2008
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| 3 | CHM
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| Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.
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| Yip SP, Cheung TS, Chu MY, Cheung SC, Leung KW, Tsang KP, Lam ST, To CH.
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| Mol Vis 13:2183-93.PMID: 18087237 2007
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| 4 | CHM
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| Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
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| Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.
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| Invest Ophthalmol Vis Sci 47(9):4113-20. 2006
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| 5 | CHM
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| Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.
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| Tolmachova T, Anders R, Abrink M, Bugeon L, Dallman MJ, Futter CE, Ramalho JS, Tonagel F, Tanimoto N, Seeliger MW, Huxley C, Seabra MC.
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| J Clin Invest. 116(2):386-94. 2006
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| 6 | CHM
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| Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
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| Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG.
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| Arch Ophthalmol 123(8):1146-9. No abstract available. 2005
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| 7 | CHM
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| Clinical findings in a carrier of a new mutation in the choroideremia gene.
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| Potter MJ, Wong E, Szabo SM, McTaggart KE.
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| Ophthalmology 111(10):1905-9. 2004
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| 8 | CHM
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| Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.
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| Rak, A., Pylypenko, O., Niculae, A., Pyatkov, K., Goody, R. S., Alexandrov, K.
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| Cell. 117: 749-760 2004
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| 9 | CHM
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| Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface.
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| Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC.
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| Biochem Biophys Res Commun. 301(1):92-7. 2003
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| 10 | CHM
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| Mutational analysis of patients with the diagnosis of choroideremia.
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| McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.
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| Hum Mutat 20(3):189-96. 2002
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| 11 | CHM
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| Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.
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| Carrel L, et al.
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| Proc Natl Acad Sci U S A 96(13):7364-9. 1999
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| 12 | CHM, CHM
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| Molecular basis of choroideremia (CHM) : mutations involving the rab escort protein-1 (REP-1) gene.
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| Van den Hurk JAJM, et al.
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| Hum Mutat 9 : 110-117. 1997
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| 13 | CHM, CHM
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| A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.
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| Forsythe P, Maguire A, Fujita R, Moen C, Swaroop A, Bennett J.
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| Exp Eye Res 64(3):487-90. 1997
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| 14 | TNFRSF4, CHM
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| Mutation analysis in Canadian families with choroideremia.
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| Nesslinger N, et al.
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| Ophthalmic Genet 17 : 47-52. 1996
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| 15 | CHM
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| Human choroideremeia protein contains a FAD-binding domain.
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| Koonin EV.
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| Nat Genet 12 : 237-239. 1996
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| 16 | CHM
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| A novel mutation (S558X) causing choroideremia.
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| BeaufrŹre L, et al.
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| Hum Mutat 8 : 395. 1996
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| 17 | CHM, DFN3, MRX40
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| Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
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| van der Maarel SM, et al.
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| Eur J Hum Genet 3 : 207-218. 1995
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| 18 | CHM
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| Phenotype variations within a choroideremia family lacking the entire CHM gene.
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| Ponjavic V, et al.
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| Ophthalmic Genet 16 : 143-150. 1995
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| 19 | DFN3, MRX40, CHM, CPX
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| A high-resolution interval map of the q21 region of the human X chromosome.
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| Philippe C, et al.
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| Genomics 27 : 539-543. 1995
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| 20 | CHM
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| Missense mutation in the choroideremia gene.
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| Donnelly P, et al.
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| Hum Mol Genet 3 : 1017. 1994
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| 21 | CHM
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| Cloning and characterization of the human choroideremia gene.
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| van Bokhoven H, et al.
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| Hum Mol Genet 3 : 1041-1046. 1994
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| 22 | CHM
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| Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
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| van Bokhoven H, et al.
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| Hum Mol Genet 3 : 1047-1051. 1994
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| 23 | CHM
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| Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
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| Van Bokhoven H, et al.
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| Hum Mol Genet 3 : 1446. 1994
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| 24 | CHM
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| Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.
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| Alexandrov K, et al.
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| EMBO J 13 : 5262-5273. 1994
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| 25 | CHM
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| MRS6-yeast homologue of the choroideraemia gene.
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| Waldherr M, et al.
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| Nat Genet 3 : 193-194. 1993
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| 26 | CHM
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| Identification of mutations in Danish choroideremia families.
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| Schwartz M, et al.
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| Hum Mutat 2 : 43-47. 1993
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| 27 | CHM
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| A new (old) deletion in the choroideremia gene.
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| Pascal O, et al.
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| Hum Mol Genet 2 : 1489. 1993
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| 28 | CHM
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| Retinal degeneration in choroideremia : deficiency of rab geranylgeranyl transferase.
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| Seabra MC, et al.
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| Science 259 : 377-381. 1993
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| 29 | CHM
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| Isolation of a candidate gene for choroideremia.
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| Merry DE, et al.
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| Proc Natl Acad Sci U S A 89 : 2135-2139. 1992
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| 30 | CHM
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| Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.
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| van den Hurk JAJM, et al.
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| Am J Hum Genet 50 : 1195-1202. 1992
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| 31 | CHM
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| Aberrant splicing of the CHM gene is a significant cause of choroideremia.
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| Sankila EM, et al.
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| Nat Genet 1 : 109-115. 1992
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| 32 | CHM, DFN3, MRX7, MRX8
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| Physical fine mapping of genes underlying X-linked deafness and non fra(X)-X-linked mental retardation at Xq21.
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| Bach I, et al.
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| Hum Genet 89 : 620-624. 1992
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| 33 | CHM
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| Prenatal exclusion of choroideremia.
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| van den Hurk JAJM, et al.
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| Am J Med Genet 44 : 822-823. 1992
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| 34 | CHM
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| Choroideremia : linkage analysis with physically mapped close DNA-markers.
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| Sankila EM, et al.
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| Hum Genet 87 : 348-352. 1991
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| 35 | CHM
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| Structure of the putative choroideremia gene and mutation spectrum in patients with tapetochoroidal degeneration.
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| van den Hurk J, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2092. 1991
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| 36 | CHM
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| Choroideremia associated with an X-autosomal translocation.
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| Siu VM, et al.
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| Hum Genet 84 : 459-464. 1990
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| 37 | CHM
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| Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.
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| van de Pol TJR, et al.
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| Nucleic Acids Res 18 : 725-731. 1990
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| 38 | DXS165, CHM
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| DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X;13 translocation.
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| Merry DE, et al.
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| Genomics 6 : 609-615. 1990
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| 39 | CHM
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| Linkage studies and deletion screening in choroideremia.
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| Wright AF, et al.
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| J Med Genet 27 : 496-498. 1990
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| 40 | CHM
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| Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
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| Cremers FPM, et al.
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| Am J Hum Genet 47 : 622-628. 1990
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| 41 | CHM
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| Cloning of a gene that is rearranged in patients with choroideraemia.
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| Cremers FPM, et al.
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| Nature 347 : 674-677. 1990
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| 42 | CHM
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| Cloning of the breakpoints of a deletion associated with choroideremia.
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| Cremers FPM, et al.
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| Hum Genet 86 : 61-64. 1990
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| 43 | CHM, DXS232, DXS233
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| Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
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| Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH.
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| Genomics 4 : 41-46. 1989
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| 44 | DFN3, CHM
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| Choroideremia and deafness with stapes fixation : a contiguous gene deletion syndrome in Xq21.
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| Merry DE, et al.
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| Am J Hum Genet 45 : 530-540. 1989
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| 45 | CHM
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| Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
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| Cremers FPM, et al.
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| Proc Natl Acad Sci U S A 86 : 7510-7514. 1989
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| 46 | CHM
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| Haplotype and multipoint linkage analysis in Finnish choroideremia families.
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| Sankila EM, et al.
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| Hum Genet 84 : 66-70. 1989
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| 47 | CHM
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| Choroideremia and hypopituitarism : an association.
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| Menon RK, Ball WS, Sperling MA.
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| Am J Med Genet 34 : 511-513. 1989
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| 48 | CHM, DXYS2X, DXYS2Y, DXYS5X, DXYS5Y, DXYS23X, DXYS23Y
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| Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia.
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| Schwartz M, et al.
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| Hum Genet 78 : 156-160. 1988
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| 49 | CHM
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| Haplotyping Finnish choroideremia patients.
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| Sankila EM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 686. 1987
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| 50 | CHM
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| Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.
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| Hodgson SV, Robertson ME, Fear CN, Goodship J, Malcolm S, Jay B, Bobrow M, Pembrey ME.
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| Hum Genet 75 : 286-290. 1987
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| 51 | DFN3, CHM
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| Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.
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| Rosenberg T, Niebuhr E, Yang HM, Parving A, Schwartz M.
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| Ophthalmic Paediatr Genet 8 : 139-143. 1987
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| 52 | CHM
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| Orientation and gene order around the choroideremia locus.
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| Sankila EM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 686. 1987
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| 53 | CHM
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| Multipoint linkage analysis in choroideremia.
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| Uhlhaas S, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 707. 1987
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| 54 | CHM, DXYS5X, DXYS5Y
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| Deletion mapping of the choroideremia locus (TCD) and flanking polymorphic X chromosomal loci.
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| Schwartz M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 689. 1987
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| 55 | CHM
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| Linkage analysis between choroideremia (TCD) and flanking polymorphic X chromosomal probes.
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| Schwartz M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 689. 1987
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| 56 | CHM, DXS165
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| Deletion of DXS165 locus in patients with classical choroideremia.
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| Cremers FP, Brunsmann F, van de Pol TJ, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers HH.
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| Clin Genet 32 : 421-423. 1987
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| 57 | CHM, DXS17, DXS72, DXS1, DXS3, DXS10
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| Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome : application to mapping the choroideremia locus.
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| Lesko JG, et al.
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| Am J Hum Genet 40 : 303-311. 1987
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| 58 | CHM, DXYS1X, DXYS12X
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| Choroideremia : close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
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| Sankila EM, et al.
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| Clin Genet 31 : 315-322. 1987
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| 59 | CHM, DXYS1X, DXYS3Y, DXS3
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| Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.
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| MacDonald IM, et al.
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| Hum Genet 77 : 233-235. 1987
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| 60 | CHM, DXYS1X, DXYS1Y, DXS72
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| Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
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| Nussbaum RL, et al.
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| Proc Natl Acad Sci U S A 84 : 6521-6525. 1987
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| 61 | CHM
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| Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.
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| Schwartz M, et al.
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| Hum Genet 74 : 449-452. 1986
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| 62 | CHM, DXYS1X, DXYS1Y
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| Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
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| Nussbaum RL, et al.
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| Am J Hum Genet 37 : 473-481. 1985
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