-
1
-
-
29144523957
-
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus
-
Abd El-Aziz M. M., El-Ashry M. F., Barragan I., Marcos I., Borrego S. & Antinolo G. (2005) Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. Curr Eye Res 30, 1081-1087.
-
(2005)
Curr Eye Res
, vol.30
, pp. 1081-1087
-
-
Abd El-Aziz, M.M.1
El-Ashry, M.F.2
Barragan, I.3
Marcos, I.4
Borrego, S.5
Antinolo, G.6
-
2
-
-
29144536174
-
Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa
-
Abd El-Aziz M. M., Patel R. J., El-Ashry M. F., Barragan I., Marcos I., Borrego S., Antinolo G. & Bhattacharya S. S. (2006) Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa. Ophthalmic Res 38, 19-23.
-
(2006)
Ophthalmic Res
, vol.38
, pp. 19-23
-
-
Abd El-Aziz, M.M.1
Patel, R.J.2
El-Ashry, M.F.3
Barragan, I.4
Marcos, I.5
Borrego, S.6
Antinolo, G.7
Bhattacharya, S.S.8
-
4
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis G. R., Cherny S. S., Cookson W. O. & Cardon L. R. (2001) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30, 97-101.
-
(2001)
Nat Genet
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
5
-
-
33644873577
-
Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa
-
Barragan I., Marcos I., Borrego S. & Antinolo G. (2005) Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa. Int J Mol Med 16, 1163-1167.
-
(2005)
Int J Mol Med
, vol.16
, pp. 1163-1167
-
-
Barragan, I.1
Marcos, I.2
Borrego, S.3
Antinolo, G.4
-
6
-
-
19644379058
-
Molecular analysis of RIMI in autosomal recessive retinitis pigmentosa
-
Barragn I., Marcos I., Borrego S. & Antinolo G. (2005) Molecular analysis of RIMI in autosomal recessive retinitis pigmentosa. Ophthalmic Res 37, 89-93.
-
(2005)
Ophthalmic Res
, vol.37
, pp. 89-93
-
-
Barragn, I.1
Marcos, I.2
Borrego, S.3
Antinolo, G.4
-
7
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein D. & Risch N. (2003) Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease. Nat Genet 33, 228-237.
-
(2003)
Nat Genet
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
8
-
-
0034791035
-
High-resolution haplotype structure in the human genome
-
Daly M. J., Rioux J. D., Schaffner S. F., Hudson T. J. & Lander E. (2001) High-resolution haplotype structure in the human genome. Nat Genet 29, 229-232.
-
(2001)
Nat Genet
, vol.29
, pp. 229-232
-
-
Daly, M.J.1
Rioux, J.D.2
Schaffner, S.F.3
Hudson, T.J.4
Lander, E.5
-
9
-
-
0032521129
-
Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3
-
Finckh U., Xu S., Kumaramanickavel G., Schurmann M., Mukkadan J. K., Fernandez S. T., John S., Weber J. L., Denton M. J. & Gal A. (1998) Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. Genomics 48, 341-345.
-
(1998)
Genomics
, vol.48
, pp. 341-345
-
-
Finckh, U.1
Xu, S.2
Kumaramanickavel, G.3
Schurmann, M.4
Mukkadan, J.K.5
Fernandez, S.T.6
John, S.7
Weber, J.L.8
Denton, M.J.9
Gal, A.10
-
10
-
-
0032830216
-
Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family
-
Gu S., Kumaramanickavel G., Srikumari C. R., Denton M. J. & Gal A. (1999) Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family. J Med Genet 36, 705-707.
-
(1999)
J Med Genet
, vol.36
, pp. 705-707
-
-
Gu, S.1
Kumaramanickavel, G.2
Srikumari, C.R.3
Denton, M.J.4
Gal, A.5
-
11
-
-
0035007067
-
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family
-
Hameed A., Khaliq S., Ismail M., Anwar K., Mehdi S. Q., Bessant D., Payne A. M. & Bhattacharya S. S. (2001) A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family. Invest Ophthalmol Vis Sci 42, 1436-1438.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1436-1438
-
-
Hameed, A.1
Khaliq, S.2
Ismail, M.3
Anwar, K.4
Mehdi, S.Q.5
Bessant, D.6
Payne, A.M.7
Bhattacharya, S.S.8
-
12
-
-
0034661280
-
RINX (VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina
-
Hayashi T., Huang J. & Deeb S. S. (2000) RINX (VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina. Genomics 67, 128-139.
-
(2000)
Genomics
, vol.67
, pp. 128-139
-
-
Hayashi, T.1
Huang, J.2
Deeb, S.S.3
-
13
-
-
0036566556
-
VSX1: A gene for posterior polymorphous dystrophy and keratoconus
-
Heon E., Greenberg A., Kopp K. K., Rootman D., Vincent A. L., Billingsley G., Priston M., Dorval K. M., Chow R. L., McInnes R. R., Heathcote G., Westall C., Sutphin J. E., Semina E., Bremner R. & Stone E. M. (2002) VSX1: A gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 11, 1029-1036.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Heon, E.1
Greenberg, A.2
Kopp, K.K.3
Rootman, D.4
Vincent, A.L.5
Billingsley, G.6
Priston, M.7
Dorval, K.M.8
Chow, R.L.9
McInnes, R.R.10
Heathcote, G.11
Westall, C.12
Sutphin, J.E.13
Semina, E.14
Bremner, R.15
Stone, E.M.16
-
14
-
-
0023230020
-
Prevalence and mode of inheritance of major genetic diseases in China
-
Hu D. N. (1987) Prevalence and mode of inheritance of major genetic diseases in China. J Med Genet 24, 584-588.
-
(1987)
J Med Genet
, vol.24
, pp. 584-588
-
-
Hu, D.N.1
-
15
-
-
0033365206
-
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
-
Khaliq S., Hameed A., Ismail M., Mehdi S. Q., Bessant D. A., Payne A. M. & Bhattacharya S. S. (1999) Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. J Hum Genet 65, 571-574.
-
(1999)
J Hum Genet
, vol.65
, pp. 571-574
-
-
Khaliq, S.1
Hameed, A.2
Ismail, M.3
Mehdi, S.Q.4
Bessant, D.A.5
Payne, A.M.6
Bhattacharya, S.S.7
-
16
-
-
9444239273
-
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers
-
Kondo H., Qin M., Mizota A., Kondo M., Hayashi H., Hayashi K., Oshima K., Tahira T. & Hayashi K. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest Ophthalmol Vis Sci 45, 4433-4439.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 4433-4439
-
-
Kondo, H.1
Qin, M.2
Mizota, A.3
Kondo, M.4
Hayashi, H.5
Hayashi, K.6
Oshima, K.7
Tahira, T.8
Hayashi, K.9
-
17
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander E. S. & Botetein D. (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botetein, D.2
-
18
-
-
0034946654
-
Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus
-
Li Y., Marcos I., Borrego S., Yu Z., Zhang K. & Antinolo G. (2001) Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. J Med Genet 38, 478-480.
-
(2001)
J Med Genet
, vol.38
, pp. 478-480
-
-
Li, Y.1
Marcos, I.2
Borrego, S.3
Yu, Z.4
Zhang, K.5
Antinolo, G.6
-
19
-
-
85015920782
-
Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases
-
Marcos I., Borrego S. & Antinolo G. (2003) Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases. Int J Mol Med 12, 983-987.
-
(2003)
Int J Mol Med
, vol.12
, pp. 983-987
-
-
Marcos, I.1
Borrego, S.2
Antinolo, G.3
-
20
-
-
0036952252
-
Cloning, characterization, and chromosome mapping of the human GlcAT-S gene
-
Marcos I., Galan J. J., Borrego S. & Antinolo G. (2002) Cloning, characterization, and chromosome mapping of the human GlcAT-S gene. J Hum Genet 47, 677-680.
-
(2002)
J Hum Genet
, vol.47
, pp. 677-680
-
-
Marcos, I.1
Galan, J.J.2
Borrego, S.3
Antinolo, G.4
-
21
-
-
0034200702
-
Mutation analysis of GABRR1 and GABRR2 in autososmal recessive retinitis pigmentosa
-
Marcos I., Ruiz A., Blaschak C. J., Borrego S., Cutting G. R. & Antinolo G. (2000) Mutation analysis of GABRR1 and GABRR2 in autososmal recessive retinitis pigmentosa. J Med Genet 37, E5.
-
(2000)
J Med Genet
, vol.37
-
-
Marcos, I.1
Ruiz, A.2
Blaschak, C.J.3
Borrego, S.4
Cutting, G.R.5
Antinolo, G.6
-
22
-
-
0032231941
-
PedCheck: A program for identification of genotype incompatibilities in linkage analysis
-
O'Connell J. R. & Weeks D. E. (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63, 259-266.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 259-266
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
23
-
-
0031748893
-
A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobu tyric acid-receptor clusters
-
Ruiz A., Borrego S., Marcos I. & Antinolo G. (1998) A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobu tyric acid-receptor clusters. Am J Hum Genet 62, 1452-1459.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1452-1459
-
-
Ruiz, A.1
Borrego, S.2
Marcos, I.3
Antinolo, G.4
-
24
-
-
17444373392
-
ALOHOMORA: A tool for linkage analysis using 10K SNP array data
-
Rüschendorf F. & Nürnberg P. (2005) ALOHOMORA: A tool for linkage analysis using 10K SNP array data. Bioinformatics 21, 2123-2125.
-
(2005)
Bioinformatics
, vol.21
, pp. 2123-2125
-
-
Rüschendorf, F.1
Nürnberg, P.2
-
25
-
-
15444364646
-
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays
-
Sellick G. S., Longman C., Tolmie J., Newbury-Ecob R., Geenhalgh L., Hughes S., Whiteford M., Garrett C. & Houlston R. S. (2004) Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res 32, e164.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Sellick, G.S.1
Longman, C.2
Tolmie, J.3
Newbury-Ecob, R.4
Geenhalgh, L.5
Hughes, S.6
Whiteford, M.7
Garrett, C.8
Houlston, R.S.9
-
26
-
-
0031790040
-
Use of isolated inbred human populations for identification of disease genes
-
Sheffield V. C., Stone E. M. & Carmi R. (1998) Use of isolated inbred human populations for identification of disease genes. Trends Genet 14, 391-396.
-
(1998)
Trends Genet
, vol.14
, pp. 391-396
-
-
Sheffield, V.C.1
Stone, E.M.2
Carmi, R.3
-
27
-
-
0346373649
-
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
-
Tuson M., Marfany G. & Gonzalez-Duarte R. (2004) Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). Am J Hum Genet 74, 128-138.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 128-138
-
-
Tuson, M.1
Marfany, G.2
Gonzalez-Duarte, R.3
-
28
-
-
0000336286
-
Retinitis pigmentosa and allied disorders
-
in: S.J. Ryan ed. St. Louis Mosby 2nd ed. St. Louis: Mosby, 1994
-
Weleber R. G. (1994) Retinitis pigmentosa and allied disorders; in: Ryan S. J., 335 ed. Retina. 2nd ed. St. Louis: Mosby, 1994, pp 335-466.
-
(1994)
Retina
, pp. 335-466
-
-
Weleber, R.G.1
-
29
-
-
16544370230
-
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and excludeAR
-
Woods C. G., Valente E. M., Bond J. & Roberts E. (2004) A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and excludeAR. J Med Genet 41, e101.
-
(2004)
J Med Genet
, vol.41
-
-
Woods, C.G.1
Valente, E.M.2
Bond, J.3
Roberts, E.4
-
30
-
-
30744476776
-
Severe autosomal recessive retinitis Pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4
-
Zhang Q., Zulfiqar F., Xiao X., Riazuddin S. A., Ayyagari R., Sabar F., Caruso R., Sieving P. A., Riazuddin S. & Hejtmancik J. F. (2005) Severe autosomal recessive retinitis Pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Gene t 118, 356-365.
-
(2005)
Hum Genet
, vol.118
, pp. 356-365
-
-
Zhang, Q.1
Zulfiqar, F.2
Xiao, X.3
Riazuddin, S.A.4
Ayyagari, R.5
Sabar, F.6
Caruso, R.7
Sieving, P.A.8
Riazuddin, S.9
Hejtmancik, J.F.10
|