-
1
-
-
84940818625
-
Über eine hereditäre Maculaffection: Beiträge zur Vererbungslehre
-
Best, F. (1905) Über eine hereditäre Maculaffection: Beiträge zur Vererbungslehre. Z. Augenheilkd., 13, 199-212.
-
(1905)
Z. Augenheilkd.
, vol.13
, pp. 199-212
-
-
Best, F.1
-
2
-
-
0019965037
-
Histopathology of Best's macular dystrophy
-
Weingeist, T.A., Kobrin, J.L. and Watzke, R.C, (1982) Histopathology of Best's macular dystrophy. Arch. Ophthalmol., 100, 1108-1114.
-
(1982)
Arch. Ophthalmol.
, vol.100
, pp. 1108-1114
-
-
Weingeist, T.A.1
Kobrin, J.L.2
Watzke, R.C.3
-
3
-
-
0001504390
-
New clinical test of retinal function based on the standing potential of the eye
-
Arden, G.B., Barrada, A. and Kelsey, J.H. (1962) New clinical test of retinal function based on the standing potential of the eye. Br. J. Ophthalmol., 46, 449-467.
-
(1962)
Br. J. Ophthalmol.
, vol.46
, pp. 449-467
-
-
Arden, G.B.1
Barrada, A.2
Kelsey, J.H.3
-
4
-
-
0026895234
-
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
-
Stone, E., Nichols, B.E., Streb, L.M., Kimura, A.E. and Sheffield, V.C. (1992) Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet., 1, 246-250.
-
(1992)
Nature Genet.
, vol.1
, pp. 246-250
-
-
Stone, E.1
Nichols, B.E.2
Streb, L.M.3
Kimura, A.E.4
Sheffield, V.C.5
-
5
-
-
0026662677
-
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family
-
Forsman, K., Graft, C., Nordstrom, S., Johansson, K., Westermark, E., Lundgren, E., Gustavson, K.H., Wadelius, C. and Holmgren, G. (1992) The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin. Genet., 42, 156-159.
-
(1992)
Clin. Genet.
, vol.42
, pp. 156-159
-
-
Forsman, K.1
Graft, C.2
Nordstrom, S.3
Johansson, K.4
Westermark, E.5
Lundgren, E.6
Gustavson, K.H.7
Wadelius, C.8
Holmgren, G.9
-
6
-
-
0028180063
-
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1
-
Nichols, B.E., Bascom, R., Litt, M., McInnes, R., Sheffield, V.C. and Stone. E.M. (1994) Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am. J Hum. Genet., 54, 95-103.
-
(1994)
Am. J Hum. Genet.
, vol.54
, pp. 95-103
-
-
Nichols, B.E.1
Bascom, R.2
Litt, M.3
McInnes, R.4
Sheffield, V.C.5
Stone, E.M.6
-
7
-
-
0028348283
-
Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: No evidence for locus heterogeneity
-
Weber, B.H.F., Walker. D., Müller, B. and Mar, L. (1994) Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. Genomics, 20, 267-274.
-
(1994)
Genomics
, vol.20
, pp. 267-274
-
-
Weber, B.H.F.1
Walker, D.2
Müller, B.3
Mar, L.4
-
8
-
-
0027942442
-
High-resolution meiotic and physical mapping of the Best's vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11
-
Weber, B.H.F., Vogt, G., Stöhr, H., Sander, S., Walker, D. and Jones, C. (1994) High-resolution meiotic and physical mapping of the Best's vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. Am. J. Hum. Genet., 55, 1182-1187.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1182-1187
-
-
Weber, B.H.F.1
Vogt, G.2
Stöhr, H.3
Sander, S.4
Walker, D.5
Jones, C.6
-
9
-
-
0028603301
-
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci
-
Graff, C., Forsman, K., Larsson, C., Nordstrom, S., Lind, L., Johansson, K., Sandgren, O., Weissenbach, J., Holmgren, G., Gustavson, K.H. and Wadelius, C. (1994) Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics, 24, 425-434.
-
(1994)
Genomics
, vol.24
, pp. 425-434
-
-
Graff, C.1
Forsman, K.2
Larsson, C.3
Nordstrom, S.4
Lind, L.5
Johansson, K.6
Sandgren, O.7
Weissenbach, J.8
Holmgren, G.9
Gustavson, K.H.10
Wadelius, C.11
-
10
-
-
0029948714
-
Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family
-
Hou, Y.C., Richards, J.E., Bingham, E.L., Pawar, H., Scott, K., Segal, M., Lunetta, K.L., Boehnke, M. and Sieving, P.A. (1996) Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. Hum. Hered., 46, 211-220.
-
(1996)
Hum. Hered.
, vol.46
, pp. 211-220
-
-
Hou, Y.C.1
Richards, J.E.2
Bingham, E.L.3
Pawar, H.4
Scott, K.5
Segal, M.6
Lunetta, K.L.7
Boehnke, M.8
Sieving, P.A.9
-
11
-
-
0028837439
-
A recombination event excludes the ROMI locus from the Best's vitelliform macular dystrophy region
-
Stöhr, H. and Weber, B.H.F. (1995) A recombination event excludes the ROMI locus from the Best's vitelliform macular dystrophy region. Hum. Genet., 95, 219-222.
-
(1995)
Hum. Genet.
, vol.95
, pp. 219-222
-
-
Stöhr, H.1
Weber, B.H.F.2
-
12
-
-
0031433105
-
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids
-
Graff, C., Eriksson, A., Foreman, K., Sandgren, O., Holmgren, G. and Wadelius, C. (1997) Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum. Genet., 101, 263-270.
-
(1997)
Hum. Genet.
, vol.101
, pp. 263-270
-
-
Graff, C.1
Eriksson, A.2
Foreman, K.3
Sandgren, O.4
Holmgren, G.5
Wadelius, C.6
-
13
-
-
9244250305
-
A high-resolution map of human chromosome 11
-
Qin, S., Nowak, N.J., Zhang, J., Sait, S.N.J., Mayers, P.C., Higgins, M.J., Cheng, Y., Li, L., Munroe, D.J., Gerhard, D.S., Weber, B.H.F., Bric, E., Housman, D.E., Evans, G.A. and Shows, T.B. (1996) A high-resolution map of human chromosome 11. Proc. Natl Acad. Sci. USA, 93, 3149-3154.
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 3149-3154
-
-
Qin, S.1
Nowak, N.J.2
Zhang, J.3
Sait, S.N.J.4
Mayers, P.C.5
Higgins, M.J.6
Cheng, Y.7
Li, L.8
Munroe, D.J.9
Gerhard, D.S.10
Weber, B.H.F.11
Bric, E.12
Housman, D.E.13
Evans, G.A.14
Shows, T.B.15
-
14
-
-
0031569886
-
A sequence ready high resolution physical map of the Best's macular dystrophy gene region in 11q12-q13
-
Cooper, P., Nowak, N.J., Higgins, M.J., Simpson, S.A., Stöhr, H., Marquardt, A., Weber, B.H.F., Gerhard, D.S., deJong, P. and Shows, T.B. (1997) A sequence ready high resolution physical map of the Best's macular dystrophy gene region in 11q12-q13. Genomics, 41, 185-192.
-
(1997)
Genomics
, vol.41
, pp. 185-192
-
-
Cooper, P.1
Nowak, N.J.2
Higgins, M.J.3
Simpson, S.A.4
Stöhr, H.5
Marquardt, A.6
Weber, B.H.F.7
Gerhard, D.S.8
DeJong, P.9
Shows, T.B.10
-
15
-
-
0031807559
-
Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes
-
Cooper, P.R., Nowak, N.J., Higgins, M.J., Church, D.M. and Shows, T.B. (1998) Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes. Genomics, 49, 419-429.
-
(1998)
Genomics
, vol.49
, pp. 419-429
-
-
Cooper, P.R.1
Nowak, N.J.2
Higgins, M.J.3
Church, D.M.4
Shows, T.B.5
-
16
-
-
2642710007
-
A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1
-
Stöhr, H., Marquardt, A., Rivera, A., Cooper, P.R., Nowak, N.J., Shows, T.B., Gerhard, D.S. and Weber, B.H.F. (1998) A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. Genome Res., 8, 48-56.
-
(1998)
Genome Res.
, vol.8
, pp. 48-56
-
-
Stöhr, H.1
Marquardt, A.2
Rivera, A.3
Cooper, P.R.4
Nowak, N.J.5
Shows, T.B.6
Gerhard, D.S.7
Weber, B.H.F.8
-
17
-
-
0014096627
-
Electrooculography in vitelliform degeneration of the macula
-
Francois, J., De Rouck, A. and Fernandez-Sasso, D. (1967) Electrooculography in vitelliform degeneration of the macula. Arch. Ophthalmol., 77, 726-733.
-
(1967)
Arch. Ophthalmol.
, vol.77
, pp. 726-733
-
-
Francois, J.1
De Rouck, A.2
Fernandez-Sasso, D.3
-
18
-
-
0023695215
-
Histopathologic findings in Best's vitelliform macular dystrophy
-
O'Gorman, S., Flaherty, W.A., Fishman, G.A. and Berson. E.A. (1988) Histopathologic findings in Best's vitelliform macular dystrophy. Arch. Ophthalmol., 106, 1261-1268.
-
(1988)
Arch. Ophthalmol.
, vol.106
, pp. 1261-1268
-
-
O'Gorman, S.1
Flaherty, W.A.2
Fishman, G.A.3
Berson, E.A.4
-
19
-
-
0030213227
-
Interpreting cDNA sequences: Some insights from studies on translation
-
Kozak, M. (1996) Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome, 7, 563-574.
-
(1996)
Mamm. Genome
, vol.7
, pp. 563-574
-
-
Kozak, M.1
-
20
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets, R., Shroyer, N.F., Singh, N., Seddon, J.M., Lewis, R.A., Bemstein, P.S., Peiffer, A., Zabriskie, N.A., Li, Y. Hutchinson, A., Dean, M., Lupski, J.R. and Leppert, M. (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science, 277, 1805-1807.
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
Shroyer, N.F.2
Singh, N.3
Seddon, J.M.4
Lewis, R.A.5
Bemstein, P.S.6
Peiffer, A.7
Zabriskie, N.A.8
Li, Y.9
Hutchinson, A.10
Dean, M.11
Lupski, J.R.12
Leppert, M.13
-
21
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers, F.P., van de Pol, D.J., van Driel, M., den Hollander, A.I., van Haren, F.J., Knoers, N.V. Tijmes, N., Bergen, A.A., Rohrschneider, K., Blankenagel, A., Pinckers, A.J., Deutman, A.F. and Hoyng, C.B. (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, 355-362.
-
(1998)
Hum. Mol Genet.
, vol.7
, 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
-
22
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
Martinez-Mir, A., Paloma, E., Allikmets, R., Ayuso, C., del Rio, T., Dean, M., Vilageliu, L., Gonzalez-Duarte, R. and Balcells, S. (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genet., 18, 11-12.
-
(1998)
Nature Genet.
, vol.18
, pp. 11-12
-
-
Martinez-Mir, A.1
Paloma, E.2
Allikmets, R.3
Ayuso, C.4
Del Rio, T.5
Dean, M.6
Vilageliu, L.7
Gonzalez-Duarte, R.8
Balcells, S.9
-
23
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Staufter, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M. and Lupski, J.R. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet., 15, 236-246.
-
(1997)
Nature Genet.
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
Chidambaram, A.6
Gerrard, B.7
Baird, L.8
Staufter, D.9
Peiffer, A.10
Rattner, A.11
Smallwood, P.12
Li, Y.13
Anderson, K.L.14
Lewis, R.A.15
Nathans, J.16
Leppert, M.17
Dean, M.18
Lupski, J.R.19
-
24
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
-
Gu, S.M., Thompson, D.A., Srikumari, C.R., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K.R., Rathmann, M., Kumaramanickavel, G., Denton, M.J. and Gal, A. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet., 17, 194-197.
-
(1997)
Nature Genet.
, vol.17
, pp. 194-197
-
-
Gu, S.M.1
Thompson, D.A.2
Srikumari, C.R.3
Lorenz, B.4
Finckh, U.5
Nicoletti, A.6
Murthy, K.R.7
Rathmann, M.8
Kumaramanickavel, G.9
Denton, M.J.10
Gal, A.11
-
25
-
-
0031252434
-
Mutations in RPE65 cause Leber's congenital amaurosis
-
Marlhens, F., Bareil, C., Griffoin, J.M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.Y, Harris, E., Redmond, T.M., Amaud, B., Claustres, M. and Hamel, C. P. (1997) Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet., 17, 139-141.
-
(1997)
Nature Genet.
, vol.17
, pp. 139-141
-
-
Marlhens, F.1
Bareil, C.2
Griffoin, J.M.3
Zrenner, E.4
Amalric, P.5
Eliaou, C.6
Liu, S.Y.7
Harris, E.8
Redmond, T.M.9
Amaud, B.10
Claustres, M.11
Hamel, C.P.12
-
27
-
-
0028185620
-
Recognizing exons in genomic sequence using GRAIL II
-
Xu, Y., Mural, R., Shah, M. and Uberbacher, E. (1994) Recognizing exons in genomic sequence using GRAIL II. Genet. Eng. NY, 16, 241-253.
-
(1994)
Genet. Eng. NY
, vol.16
, pp. 241-253
-
-
Xu, Y.1
Mural, R.2
Shah, M.3
Uberbacher, E.4
-
28
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomezynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem., 162, 156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomezynski, P.1
Sacchi, N.2
-
30
-
-
0028338871
-
Molecular evidence for non-penetrance in Best's disease
-
Weber, B.H.F., Walker, D. and Müller, B. (1994) Molecular evidence for non-penetrance in Best's disease. J. Med. Genet., 31, 388-392.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 388-392
-
-
Weber, B.H.F.1
Walker, D.2
Müller, B.3
-
31
-
-
0031876618
-
Refined mapping of the gene encoding the p127kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy
-
in press
-
Stöhr, H., Marquardt, A., Rivera, A., Kellner, U. and Weber, B.H.F. (1998) Refined mapping of the gene encoding the p127kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy, Eur. J. Hum. Genet., in press.
-
(1998)
Eur. J. Hum. Genet.
-
-
Stöhr, H.1
Marquardt, A.2
Rivera, A.3
Kellner, U.4
Weber, B.H.F.5
|