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Volumn 87, Issue 7, 2003, Pages 893-898

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

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EID: 0038798786     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.87.7.893     Document Type: Article
Times cited : (27)

References (48)
  • 1
    • 0027401094 scopus 로고
    • Butterfly shaped pigment dystrophy of the fovea caused by a point mutation in the RDS gene
    • Nichols B, Sheffield V, Vandenburgh K, et al. Butterfly shaped pigment dystrophy of the fovea caused by a point mutation in the RDS gene. Nat Genet 1993;3:202-7.
    • (1993) Nat Genet , vol.3 , pp. 202-207
    • Nichols, B.1    Sheffield, V.2    Vandenburgh, K.3
  • 2
    • 0029127270 scopus 로고
    • Localisation if the gene for progressive bifocal chorioretinol atrophy (PBCRA) to chromosome 6q
    • Kelsell R, Godfrey B, Evans K, et al. Localisation if the gene for progressive bifocal chorioretinol atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;4:1653-6.
    • (1995) Hum Mol Genet , vol.4 , pp. 1653-1656
    • Kelsell, R.1    Godfrey, B.2    Evans, K.3
  • 3
    • 0014981591 scopus 로고
    • Hereditary macular degeneration and aminoaciduria
    • Lefler W, Wadsworth J, Sidbury J. Hereditary macular degeneration and aminoaciduria. Am J Ophthalmol 1971;71:224-30.
    • (1971) Am J Ophthalmol , vol.71 , pp. 224-230
    • Lefler, W.1    Wadsworth, J.2    Sidbury, J.3
  • 4
    • 0016363933 scopus 로고
    • A new dominant progressive foveal dystrophy
    • Frank H, Landers M, Williams R, et al. A new dominant progressive foveal dystrophy. Am J Ophthalmol 1974;78:903-16.
    • (1974) Am J Ophthalmol , vol.78 , pp. 903-916
    • Frank, H.1    Landers, M.2    Williams, R.3
  • 6
    • 0021194060 scopus 로고
    • Central areolar pigment epithelial dystrophy
    • Hermsen V, Judsch J. Central areolar pigment epithelial dystrophy. Ophthalmologica 1984;189:69-72.
    • (1984) Ophthalmologica , vol.189 , pp. 69-72
    • Hermsen, V.1    Judsch, J.2
  • 7
    • 0020417781 scopus 로고
    • Autosomal dominant central pigment epithelial and choroidol degeneration
    • Leveille A, Morse P, Kiernan J. Autosomal dominant central pigment epithelial and choroidol degeneration. Ophthalmology 1982;89:1407-13.
    • (1982) Ophthalmology , vol.89 , pp. 1407-1413
    • Leveille, A.1    Morse, P.2    Kiernan, J.3
  • 8
    • 0020367125 scopus 로고
    • An inherited central retinal pigment epithelial dystrophy
    • Klein R, Bresnick G. An inherited central retinal pigment epithelial dystrophy. Birth Defects 1982;19:281-96.
    • (1982) Birth Defects , vol.19 , pp. 281-296
    • Klein, R.1    Bresnick, G.2
  • 9
    • 0026594081 scopus 로고
    • North Carolina macular dystrophy and central areolar pigment epithelial dystrophy
    • Small K, Hermsen V, Gurney N, et al. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. Arch Ophthalmol 1992;110:515-18.
    • (1992) Arch Ophthalmol , vol.110 , pp. 515-518
    • Small, K.1    Hermsen, V.2    Gurney, N.3
  • 10
    • 0031669544 scopus 로고    scopus 로고
    • Phenotype of a British North Carolina macular dystropy family linked to chromosome 6q
    • Reichel M, Kelsell R, Fan J, et al. Phenotype of a British North Carolina macular dystropy family linked to chromosome 6q. Br J Ophthalmol 1998;82:1162-8.
    • (1998) Br J Ophthalmol , vol.82 , pp. 1162-1168
    • Reichel, M.1    Kelsell, R.2    Fan, J.3
  • 11
    • 0037599973 scopus 로고
    • A new North Carolina macular dystrophy (MCDR1) family in Texas mops to chromosome 6q16
    • Garcia C, Callardo G, Mullen L, et al. A new North Carolina macular dystrophy (MCDR1) family in Texas mops to chromosome 6q16. Invest Ophthalmol Vis Sci 1995;36(suppl):892.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , Issue.SUPPL. , pp. 892
    • Garcia, C.1    Callardo, G.2    Mullen, L.3
  • 12
    • 0037937982 scopus 로고
    • Belize macular dystrophy maps to chromosome 6q16 the north carolina macular dystrophy locus, MCDR1
    • Rabb M, Mullen L, Yechits S, et al. Belize macular dystrophy maps to chromosome 6q16 (the north carolina macular dystrophy locus, MCDR1. Invest Ophthalmol Vis Sci 1995;36(suppl):892.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , Issue.SUPPL. , pp. 892
    • Rabb, M.1    Mullen, L.2    Yechits, S.3
  • 13
    • 25944478429 scopus 로고    scopus 로고
    • A new French family with the North Carolina macular dystrophy phenotype maps to the MCDR1 locus
    • Yechits S, Puech B, Mullen L, et al. A new French family with the North Carolina macular dystrophy phenotype maps to the MCDR1 locus. Am J Human Genet 1996;59:A391.
    • (1996) Am J Human Genet , vol.59
    • Yechits, S.1    Puech, B.2    Mullen, L.3
  • 14
    • 0026710901 scopus 로고
    • North Carolina macular dystrophy is assigned to chromosome 6
    • Small K, Weber J, Roses A, et al. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13:681-5.
    • (1992) Genomics , vol.13 , pp. 681-685
    • Small, K.1    Weber, J.2    Roses, A.3
  • 15
    • 84907113514 scopus 로고
    • North Carolina macular dystrophy (MCDR1). A review and fine mapping to 6q14-q16.2
    • Small K, Weber J, Roses A, et al. North Carolina macular dystrophy (MCDR1). A review and fine mapping to 6q14-q16.2. Ophthal Paed Genet 1993;14:143-50.
    • (1993) Ophthal Paed Genet , vol.14 , pp. 143-150
    • Small, K.1    Weber, J.2    Roses, A.3
  • 16
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
    • Stone E, Nichols B, Kimura A, et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765-72.
    • (1994) Arch Ophthalmol , vol.112 , pp. 765-772
    • Stone, E.1    Nichols, B.2    Kimura, A.3
  • 17
    • 0033987580 scopus 로고    scopus 로고
    • Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1 loci
    • Griesinger I, Sieving P, Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1 loci. Invest Ophthalmol Vis Sci 2000;41:248-55.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 248-255
    • Griesinger, I.1    Sieving, P.2    Ayyagari, R.3
  • 18
    • 0032231753 scopus 로고    scopus 로고
    • Localisation of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q
    • Kelsell R, Gregory-Evans K, CY G, et al. Localisation of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Human Genet 1998;63:274-9.
    • (1998) Am J Human Genet , vol.63 , pp. 274-279
    • Kelsell, R.1    Gregory-Evans, K.2    Cy, G.3
  • 19
    • 0033825507 scopus 로고    scopus 로고
    • Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration
    • Stefko S, Zhang K, Gorin M, et al. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am J Ophthalmol 2000;130:203-8.
    • (2000) Am J Ophthalmol , vol.130 , pp. 203-208
    • Stefko, S.1    Zhang, K.2    Gorin, M.3
  • 20
    • 0031748893 scopus 로고    scopus 로고
    • A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters
    • Ruiz A, Borrego S, Marcos I, et al. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Human Genet 1998;62:1452-9.
    • (1998) Am J Human Genet , vol.62 , pp. 1452-1459
    • Ruiz, A.1    Borrego, S.2    Marcos, I.3
  • 21
    • 0024853502 scopus 로고
    • North Carolina macular dystrophy
    • Small K. North Carolina macular dystrophy. Ophthalmology 1989;96:1747-54.
    • (1989) Ophthalmology , vol.96 , pp. 1747-1754
    • Small, K.1
  • 22
    • 0025743279 scopus 로고
    • North Carolina's dominant progressive foveal dystrophy: How progressive is it?
    • Small K, Killian J, WCMcLean. North Carolina's dominant progressive foveal dystrophy: how progressive is it? Br J Ophthalmol 1990;75:401-6.
    • (1990) Br J Ophthalmol , vol.75 , pp. 401-406
    • Small, K.1    Killian, J.2    McLean, W.C.3
  • 23
    • 0027180952 scopus 로고
    • Genetic epidemiological studies of early-onset deafness in the US school-age population
    • Marazita M, Ploughman L, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet 1993;46:486-91.
    • (1993) Am J Med Genet , vol.46 , pp. 486-491
    • Marazita, M.1    Ploughman, L.2    Rawlings, B.3
  • 24
    • 0035968605 scopus 로고    scopus 로고
    • Advances in hereditary deafness
    • Tekin M, Arnos K, Pandya A. Advances in hereditary deafness. Lancet 2001;358:1082-90.
    • (2001) Lancet , vol.358 , pp. 1082-1090
    • Tekin, M.1    Arnos, K.2    Pandya, A.3
  • 25
    • 0029202639 scopus 로고
    • Clinical and molecular genetics of Usher syndrome
    • Kimberling W, Moller C. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 1995;6:63-72.
    • (1995) J Am Acad Audiol , vol.6 , pp. 63-72
    • Kimberling, W.1    Moller, C.2
  • 26
    • 0033569513 scopus 로고    scopus 로고
    • Molecular genetics of Usher syndrome
    • Eudy J, Sumegi J. Molecular genetics of Usher syndrome. Cell Mol Life Sci 1999;56:258-67.
    • (1999) Cell Mol Life Sci , vol.56 , pp. 258-267
    • Eudy, J.1    Sumegi, J.2
  • 27
    • 0031473018 scopus 로고    scopus 로고
    • Alport syndrome. A review of the ocular manifestations
    • Colville D, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997;18:161-73.
    • (1997) Ophthalmic Genet , vol.18 , pp. 161-173
    • Colville, D.1    Savige, J.2
  • 28
    • 0027486191 scopus 로고
    • Rod-cone dystrophy, sensorineurl deafness and renal dysfunction: On autosomal recessive syndrome?
    • Beighton P, Bartmann L, Bingham G, et al. Rod-cone dystrophy, sensorineurl deafness and renal dysfunction: on autosomal recessive syndrome? Am J Med Genet 1993;47:832-6.
    • (1993) Am J Med Genet , vol.47 , pp. 832-836
    • Beighton, P.1    Bartmann, L.2    Bingham, G.3
  • 29
    • 0034489239 scopus 로고    scopus 로고
    • Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone dystrophy
    • Meire F, Genderen MV, Lemmens K, et al. Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone dystrophy. Ophthalmic Genet 2000;21:243-50.
    • (2000) Ophthalmic Genet , vol.21 , pp. 243-250
    • Meire, F.1    Genderen, M.V.2    Lemmens, K.3
  • 30
    • 0029665997 scopus 로고    scopus 로고
    • A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction and congenital cataract
    • Rosenburg T, Parving A. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction and congenital cataract. Acta Ophthalmol Scand 1996;219 (suppl):50-3.
    • (1996) Acta Ophthalmol Scand , vol.219 , Issue.SUPPL. , pp. 50-53
    • Rosenburg, T.1    Parving, A.2
  • 31
    • 0030480563 scopus 로고    scopus 로고
    • Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome
    • Ponjavic V, Andreasson S, Tranebjaerg L, et al. Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome. Acta Ophthalmol Scand 1996;74:632-5.
    • (1996) Acta Ophthalmol Scand , vol.74 , pp. 632-635
    • Ponjavic, V.1    Andreasson, S.2    Tranebjaerg, L.3
  • 32
    • 0033503921 scopus 로고    scopus 로고
    • Pigmentary retinal dystrophy an the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation
    • Smith P, Bain S, Good P, et al. Pigmentary retinal dystrophy an the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. Ophthalmology 1999;106:1101-8.
    • (1999) Ophthalmology , vol.106 , pp. 1101-1108
    • Smith, P.1    Bain, S.2    Good, P.3
  • 33
    • 12944272137 scopus 로고    scopus 로고
    • Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness
    • Massin P, Virally-Monod M, Vialettes B, et al. Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. ophthalmology 1999;106:1821-7.
    • (1999) Ophthalmology , vol.106 , pp. 1821-1827
    • Massin, P.1    Virally-Monod, M.2    Vialettes, B.3
  • 34
    • 0030837435 scopus 로고    scopus 로고
    • Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mitochondrial heteroplasmy
    • Harrison T, Boles R, Johnson D, et al. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997;124:217-21.
    • (1997) Am J Ophthalmol , vol.124 , pp. 217-221
    • Harrison, T.1    Boles, R.2    Johnson, D.3
  • 35
    • 0031964692 scopus 로고    scopus 로고
    • Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion
    • Souied E, Sales M, Soubrane G, et al. Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion. Am J Ophthalmol 1998;125:100-3.
    • (1998) Am J Ophthalmol , vol.125 , pp. 100-103
    • Souied, E.1    Sales, M.2    Soubrane, G.3
  • 36
    • 0028231090 scopus 로고
    • The 1993-1994 Genethon human linkage map
    • Gyapay G, Morisette J, Vignal A, et al. The 1993-1994 Genethon human linkage map. Nat Genet 1994;7:246-339.
    • (1994) Nat Genet , vol.7 , pp. 246-339
    • Gyapay, G.1    Morisette, J.2    Vignal, A.3
  • 37
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 38
    • 0029946879 scopus 로고    scopus 로고
    • Faster linkage analysis computations for pedigrees with loops or unused alleles
    • Schaffer A. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 1996;46:226-35.
    • (1996) Hum Hered , vol.46 , pp. 226-235
    • Schaffer, A.1
  • 39
    • 0027366195 scopus 로고
    • Faster sequential genetic linkage computations
    • Cottingham R, Idury R, Schaffer A. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-63.
    • (1993) Am J Hum Genet , vol.53 , pp. 252-263
    • Cottingham, R.1    Idury, R.2    Schaffer, A.3
  • 40
    • 0032231941 scopus 로고    scopus 로고
    • Program for identification of genotype incompatibilities in linkage analysis
    • O'Connell J, Weeks D. Program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
    • (1998) Am J Hum Genet , vol.63 , pp. 259-266
    • O'Connell, J.1    Weeks, D.2
  • 41
    • 0028946003 scopus 로고
    • Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy
    • Holz F, Evans K, Gregory C, et al. Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. Arch Ophthalmol 1995;113:178-84.
    • (1995) Arch Ophthalmol , vol.113 , pp. 178-184
    • Holz, F.1    Evans, K.2    Gregory, C.3
  • 42
    • 0034753362 scopus 로고    scopus 로고
    • At the speed of sound: Gene discovery in the auditory system
    • Resendes B, Williamson R, Morton C. At the speed of sound: gene discovery in the auditory system. Am J Hum Genet 2001;69:923-35.
    • (2001) Am J Hum Genet , vol.69 , pp. 923-935
    • Resendes, B.1    Williamson, R.2    Morton, C.3
  • 43
    • 0032969992 scopus 로고    scopus 로고
    • Genomics and hearing impairment
    • Keats B, Berlin C. Genomics and hearing impairment. Genome Res 1999;9:7-16.
    • (1999) Genome Res , vol.9 , pp. 7-16
    • Keats, B.1    Berlin, C.2
  • 44
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-9.
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 45
    • 0033569513 scopus 로고    scopus 로고
    • Molecular genetics of Usher syndrome
    • Eudy J, Sumegi J. Molecular genetics of Usher syndrome. Cell Mol Life Sci 1999;56:258-67.
    • (1999) Cell Mol Life Sci , vol.56 , pp. 258-267
    • Eudy, J.1    Sumegi, J.2
  • 46
    • 0036241436 scopus 로고    scopus 로고
    • Mutations of RPGR in X-linked retinitis pigmentosa (RP3)
    • Vervoort R, Wright A. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat 2002;19:486-500.
    • (2002) Hum Mutat , vol.19 , pp. 486-500
    • Vervoort, R.1    Wright, A.2
  • 47
    • 0034835042 scopus 로고    scopus 로고
    • Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
    • Joensuu T, Hamalainen R, Yuan B, et al. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001;69:673-84.
    • (2001) Am J Hum Genet , vol.69 , pp. 673-684
    • Joensuu, T.1    Hamalainen, R.2    Yuan, B.3
  • 48
    • 0035421436 scopus 로고    scopus 로고
    • Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    • Alagramam K, Yuan H, Kuehn M, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001;10:1709-18.
    • (2001) Hum Mol Genet , vol.10 , pp. 1709-1718
    • Alagramam, K.1    Yuan, H.2    Kuehn, M.3


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