SCOPUS 정보 검색 플랫폼

Advances in Experimental Medicine and Biology

Volumn 801, Issue , 2014, Pages 177-183

Genetic heterogeneity and clinical outcome in a swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes

(5) Jonsson, Frida a Burstedt, Marie S b Sandgren, Ola b Norberg, Anna a Golovleva, Irina a

a UMEÅ UNIVERSITY HOSPITAL (Sweden)

b UMEÅ UNIVERSITY (Sweden)

Author keywords

ABCA4; CRB1; Leber congenital amaurosis; Mutation; SNP array; Stargardt disease

Indexed keywords

ABCA4 GENE; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; CRB1 GENE; FAMILY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MOLECULAR GENETICS; PRIORITY JOURNAL; RETINA DEGENERATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STARGARDT DISEASE; SWEDISH CITIZEN; VISUAL ACUITY; ADULT; CHILD; FAMILY HEALTH; FEMALE; GENETICS; HAPLOTYPE; MALE; PHENOTYPE; RETINA MACULA DEGENERATION; SWEDEN;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; CRB1 PROTEIN, HUMAN; EYE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; LEBER CONGENITAL AMAUROSIS; MACULAR DEGENERATION; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEDEN;

EID: 84904806996 PISSN: 00652598 EISSN: 22148019 Source Type: Book Series
DOI: 10.1007/978-1-4614-3209-8_23 Document Type: Article

Times cited : (3)

References (9)

1
- 71649113982
- Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
- Chung DC, Traboulsi EI (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 13(6):587-592
- (2009) J AAPOS , vol.13 , Issue.6 , pp. 587-592
- Chung, D.C.¹ Traboulsi, E.I.²

2
- 0034964652
- Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 ( CRB1) gene
- den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP (2001) Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 ( CRB1) gene. Am J Hum Genet 69(1):198-203
- (2001) Am J Hum Genet , vol.69 , Issue.1 , pp. 198-203
- den Hollander, A.I.¹ Heckenlively, J.R.² van den Born, L.I.³ de Kok, Y.J.⁴ van der Velde-Visser, S.D.⁵ Kellner, U.⁶ Jurklies, B.⁷ van Schooneveld, M.J.⁸ Blankenagel, A.⁹ Rohrschneider, K.¹⁰ Wissinger, B.¹¹ Cruysberg, J.R.¹² Deutman, A.F.¹³ Brunner, H.G.¹⁴ Apfelstedt-Sylla, E.¹⁵ Hoyng, C.B.¹⁶ Cremers, F.P.¹⁷

3
- 0032833350
- Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
- den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 23(2):217-221
- (1999) Nat Genet , vol.23 , Issue.2 , pp. 217-221
- den Hollander, A.I.¹ ten Brink, J.B.² de Kok, Y.J.³ van Soest, S.⁴ van den Born, L.I.⁵ van Driel, M.A.⁶ van de Pol, D.J.⁷ Payne, A.M.⁸ Bhattacharya, S.S.⁹ Kellner, U.¹⁰ Hoyng, C.B.¹¹ Westerveld, A.¹² Brunner, H.G.¹³ Bleeker-Wagemakers, E.M.¹⁴ Deutman, A.F.¹⁵ Heckenlively, J.R.¹⁶ Cremers, F.P.¹⁷ Bergen, A.A.¹⁸

4
- 84856077133
- Analysis of the ABCA4 gene by next-generation sequencing
- Zernant J, Schubert C, Im KM, Burke T, Brown CM, Fishman GA, Tsang SH, Gouras P, Dean M, Allikmets R (2011) Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci 52(11):8479-8487
- (2011) Invest Ophthalmol Vis Sci , vol.52 , Issue.11 , pp. 8479-8487
- Zernant, J.¹ Schubert, C.² Im, K.M.³ Burke, T.⁴ Brown, C.M.⁵ Fishman, G.A.⁶ Tsang, S.H.⁷ Gouras, P.⁸ Dean, M.⁹ Allikmets, R.¹⁰

5
- 6844259885
- Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
- Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7(3):355-362
- (1998) Hum Mol Genet , vol.7 , Issue.3 , pp. 355-362
- Cremers, F.P.¹ van de Pol, D.J.² van Driel, M.³ den Hollander, A.I.⁴ van Haren, F.J.⁵ Knoers, N.V.⁶ Tijmes, N.⁷ Bergen, A.A.⁸ Rohrschneider, K.⁹ Blankenagel, A.¹⁰ Pinckers, A.J.¹¹ Deutman, A.F.¹² Hoyng, C.B.¹³

6
- 0033794939
- Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
- Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP (2000) Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 67(4):960-966
- (2000) Am J Hum Genet , vol.67 , Issue.4 , pp. 960-966
- Maugeri, A.¹ Klevering, B.J.² Rohrschneider, K.³ Blankenagel, A.⁴ Brunner, H.G.⁵ Deutman, A.F.⁶ Hoyng, C.B.⁷ Cremers, F.P.⁸

7
- 0033237315
- The 2588G-CC mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
- Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP (1999) The 2588G-CC mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 64(4):1024-1035
- (1999) Am J Hum Genet , vol.64 , Issue.4 , pp. 1024-1035
- Maugeri, A.¹ van Driel, M.A.² van de Pol, D.J.³ Klevering, B.J.⁴ van Haren, F.J.⁵ Tijmes, N.⁶ Bergen, A.A.⁷ Rohrschneider, K.⁸ Blankenagel, A.⁹ Pinckers, A.J.¹⁰ Dahl, N.¹¹ Brunner, H.G.¹² Deutman, A.F.¹³ Hoyng, C.B.¹⁴ Cremers, F.P.¹⁵

8
- 45749149163
- ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
- Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jagle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B (2008) ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet 16(7):812-819
- (2008) Eur J Hum Genet , vol.16 , Issue.7 , pp. 812-819
- Kitiratschky, V.B.¹ Grau, T.² Bernd, A.³ Zrenner, E.⁴ Jagle, H.⁵ Renner, A.B.⁶ Kellner, U.⁷ Rudolph, G.⁸ Jacobson, S.G.⁹ Cideciyan, A.V.¹⁰ Schaich, S.¹¹ Kohl, S.¹² Wissinger, B.¹³

9
- 84861130906
- A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene
- Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mossner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH (2012) A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. Invest Ophthalmol Vis Sci 53(4):2112-2118
- (2012) Invest Ophthalmol Vis Sci , vol.53 , Issue.4 , pp. 2112-2118
- Fritsche, L.G.¹ Fleckenstein, M.² Fiebig, B.S.³ Schmitz-Valckenberg, S.⁴ Bindewald-Wittich, A.⁵ Keilhauer, C.N.⁶ Renner, A.B.⁷ Mackensen, F.⁸ Mossner, A.⁹ Pauleikhoff, D.¹⁰ Adrion, C.¹¹ Mansmann, U.¹² Scholl, H.P.¹³ Holz, F.G.¹⁴ Weber, B.H.¹⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.