-
1
-
-
0021867828
-
The ocular form of osteogenesis imperfecta: A new autosomal recessive syndrome
-
Beighton P, Winship I, Behari D (1985) The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clin Genet 28:69-75
-
(1985)
Clin Genet
, vol.28
, pp. 69-75
-
-
Beighton, P.1
Winship, I.2
Behari, D.3
-
2
-
-
0037118285
-
High bone density due to a mutation in LDL-receptor-related protein 5
-
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346:1513-1521
-
(2002)
N Engl J Med
, vol.346
, pp. 1513-1521
-
-
Boyden, L.M.1
Mao, J.2
Belsky, J.3
Mitzner, L.4
Farhi, A.5
Mitnick, M.A.6
Wu, D.7
Insogna, K.8
Lifton, R.P.9
-
3
-
-
0027367772
-
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
-
Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW (1993) A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 5:180-183
-
(1993)
Nat Genet
, vol.5
, pp. 180-183
-
-
Chen, Z.Y.1
Battinelli, E.M.2
Fielder, A.3
Bundey, S.4
Sims, K.5
Breakefield, X.O.6
Craig, I.W.7
-
6
-
-
14444268540
-
Autosomal recessive familial exudative vitreoretinopathy: Evidence for genetic heterogeneity
-
de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P (1998) Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet 54:315-320
-
(1998)
Clin Genet
, vol.54
, pp. 315-320
-
-
De Crecchio, G.1
Simonelli, F.2
Nunziata, G.3
Mazzeo, S.4
Greco, G.M.5
Rinaldi, E.6
Ventruto, V.7
Ciccodicola, A.8
Miano, M.G.9
Testa, F.10
Curci, A.11
D'Urso, M.12
Rinaldi, M.M.13
Cavaliere, M.L.14
Castelluccio, P.15
-
7
-
-
0027472861
-
Osteoporosis-pseudoglioma syndrome
-
De Paepe A, Leroy JG, Nuytinck L, Meire F, Capoen J (1993) Osteoporosis-pseudoglioma syndrome. Am J Med Genet 45:30-37
-
(1993)
Am J Med Genet
, vol.45
, pp. 30-37
-
-
De Paepe, A.1
Leroy, J.G.2
Nuytinck, L.3
Meire, F.4
Capoen, J.5
-
8
-
-
0035092388
-
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13
-
Downey LM, Keen TJ, Roberts E, Mansfield DC, Bamashmus M, Inglehearn CF (2001) A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 68:778-781
-
(2001)
Am J Hum Genet
, vol.68
, pp. 778-781
-
-
Downey, L.M.1
Keen, T.J.2
Roberts, E.3
Mansfield, D.C.4
Bamashmus, M.5
Inglehearn, C.F.6
-
9
-
-
0037422571
-
Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion
-
Fujino T, Asaba H, Kang MJ, Ikeda Y, Sone H, Takada S, Kim DH, Ioka RX, Ono M, Tomoyori H, Okubo M, Murase T, Kamataki A, Yamamoto J, Magoori K, Takahashi S, Miyamoto Y, Oishi H, Nose M, Okazaki M, Usui S, Imaizumi K, Yanagisawa M, Sakai J, Yamamoto TT (2003) Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion. Proc Natl Acad Sci USA 100:229-234
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 229-234
-
-
Fujino, T.1
Asaba, H.2
Kang, M.J.3
Ikeda, Y.4
Sone, H.5
Takada, S.6
Kim, D.H.7
Ioka, R.X.8
Ono, M.9
Tomoyori, H.10
Okubo, M.11
Murase, T.12
Kamataki, A.13
Yamamoto, J.14
Magoori, K.15
Takahashi, S.16
Miyamoto, Y.17
Oishi, H.18
Nose, M.19
Okazaki, M.20
Usui, S.21
Imaizumi, K.22
Yanagisawa, M.23
Sakai, J.24
Yamamoto, T.T.25
more..
-
10
-
-
0027538554
-
X linked exudative vitreoretinopathy: Clinical features and genetic linkage analysis
-
Fullwood P, Jones J, Bundey S, Dudgeon J, Fielder AR, Kilpatrick MW (1993) X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol 77:168-170
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 168-170
-
-
Fullwood, P.1
Jones, J.2
Bundey, S.3
Dudgeon, J.4
Fielder, A.R.5
Kilpatrick, M.W.6
-
11
-
-
18044386744
-
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
-
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, et al (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523
-
(2001)
Cell
, vol.107
, pp. 513-523
-
-
Gong, Y.1
Slee, R.B.2
Fukai, N.3
Rawadi, G.4
Roman-Roman, S.5
Reginato, A.M.6
Wang, H.7
-
12
-
-
0032541395
-
Cloning of a novel member of the low-density lipoprotein receptor family
-
Hey PJ, Twells RC, Phillips MS, Yusuke N, Brown SD, Kawaguchi Y, Cox R, Guochun X, Dugan V, Hammond H, Metzker ML, Todd JA, Hess JF (1998) Cloning of a novel member of the low-density lipoprotein receptor family. Gene 216:103-111
-
(1998)
Gene
, vol.216
, pp. 103-111
-
-
Hey, P.J.1
Twells, R.C.2
Phillips, M.S.3
Yusuke, N.4
Brown, S.D.5
Kawaguchi, Y.6
Cox, R.7
Guochun, X.8
Dugan, V.9
Hammond, H.10
Metzker, M.L.11
Todd, J.A.12
Hess, J.F.13
-
13
-
-
0033764924
-
Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35
-
Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF (2000) Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 67:1309-1313
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1309-1313
-
-
Jiao, X.1
Munier, F.L.2
Iwata, F.3
Hayakawa, M.4
Kanai, A.5
Lee, J.6
Schorderet, D.F.7
Chen, M.S.8
Kaiser-Kupfer, M.9
Hejtmancik, J.F.10
-
14
-
-
0037092049
-
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
-
Kato M, Patel MS, Levasseur R, Lobov I, Chang BH, Glass DA, Hartmann C, Li L, Hwang TH, Brayton CF, Lang RA, Karsenty G, Chan L (2002) Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor. J Cell Biol 157:303-314
-
(2002)
J Cell Biol
, vol.157
, pp. 303-314
-
-
Kato, M.1
Patel, M.S.2
Levasseur, R.3
Lobov, I.4
Chang, B.H.5
Glass, D.A.6
Hartmann, C.7
Li, L.8
Hwang, T.H.9
Brayton, C.F.10
Lang, R.A.11
Karsenty, G.12
Chan, L.13
-
15
-
-
0035015985
-
Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis
-
Kondo H, Ohno K, Tahira T, Hayashi H, Oshima K, Hayashi K (2001) Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis. Hum Genet 108:368-375
-
(2001)
Hum Genet
, vol.108
, pp. 368-375
-
-
Kondo, H.1
Ohno, K.2
Tahira, T.3
Hayashi, H.4
Oshima, K.5
Hayashi, K.6
-
16
-
-
0021344005
-
Easy calculations of LOD scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
17
-
-
0026756530
-
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533
-
Li Y, Müller B, Fuhrmann C, van Nouhuys CE, Laqua H, Humphries P, Schwinger E, Gal A (1992) The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 51:749-754
-
(1992)
Am J Hum Genet
, vol.51
, pp. 749-754
-
-
Li, Y.1
Müller, B.2
Fuhrmann, C.3
Van Nouhuys, C.E.4
Laqua, H.5
Humphries, P.6
Schwinger, E.7
Gal, A.8
-
18
-
-
0036138175
-
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
-
Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, et al (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11-19
-
(2002)
Am J Hum Genet
, vol.70
, pp. 11-19
-
-
Little, R.D.1
Carulli, J.P.2
Del Mastro, R.G.3
Dupuis, J.4
Osborne, M.5
Folz, C.6
Manning, S.P.7
-
19
-
-
18244427021
-
Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway
-
Mao J, Wang J, Liu B, Pan W, Farr GH III, Flynn C, Yuan H, Takada S, Kimelman D, Li L, Wu D (2001) Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway. Mol Cell 7:801-809
-
(2001)
Mol Cell
, vol.7
, pp. 801-809
-
-
Mao, J.1
Wang, J.2
Liu, B.3
Pan, W.4
Farr III, G.H.5
Flynn, C.6
Yuan, H.7
Takada, S.8
Kimelman, D.9
Li, L.10
Wu, D.11
-
20
-
-
12144287023
-
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
-
Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura K (2004) LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. J Hum Genet 49:80-86
-
(2004)
J Hum Genet
, vol.49
, pp. 80-86
-
-
Mizuguchi, T.1
Furuta, I.2
Watanabe, Y.3
Tsukamoto, K.4
Tomita, H.5
Tsujihata, M.6
Ohta, T.7
Kishino, T.8
Matsumoto, N.9
Minakami, H.10
Niikawa, N.11
Yoshiura, K.12
-
21
-
-
0028280907
-
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families
-
Müller B, Orth U, van Nouhuys CE, Duvigneau C, Fuhrmann C, Schwinger E, Laqua H, Gal A (1994) Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics 20:317-319
-
(1994)
Genomics
, vol.20
, pp. 317-319
-
-
Müller, B.1
Orth, U.2
Van Nouhuys, C.E.3
Duvigneau, C.4
Fuhrmann, C.5
Schwinger, E.6
Laqua, H.7
Gal, A.8
-
22
-
-
0034727078
-
An LDL-receptor-related protein mediates Wnt signalling in mice
-
Pinson KI, Brennan J, Monkley S, Avery BJ, Skarnes WC (2000) An LDL-receptor-related protein mediates Wnt signalling in mice. Nature 407:535-538
-
(2000)
Nature
, vol.407
, pp. 535-538
-
-
Pinson, K.I.1
Brennan, J.2
Monkley, S.3
Avery, B.J.4
Skarnes, W.C.5
-
23
-
-
0029887050
-
Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity
-
Price SM, Periam N, Humphries A, Woodruff G, Trembath RC (1996) Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic Genet 17:53-57
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 53-57
-
-
Price, S.M.1
Periam, N.2
Humphries, A.3
Woodruff, G.4
Trembath, R.C.5
-
24
-
-
0036789449
-
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
-
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME (2002) Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 32:326-330
-
(2002)
Nat Genet
, vol.32
, pp. 326-330
-
-
Robitaille, J.1
MacDonald, M.L.2
Kaykas, A.3
Sheldahl, L.C.4
Zeisler, J.5
Dube, M.P.6
Zhang, L.H.7
Singaraja, R.R.8
Guernsey, D.L.9
Zheng, B.10
Siebert, L.F.11
Hoskin-Mott, A.12
Trese, M.T.13
Pimstone, S.N.14
Shastry, B.S.15
Moon, R.T.16
Hayden, M.R.17
Goldberg, Y.P.18
Samuels, M.E.19
-
25
-
-
0033809655
-
Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy
-
Shastry BS, Hejtmancik JF, Hiraoka M, Ibaraki N, Okubo Y, Okubo A, Han DP, Trese MT (2000) Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. Clin Genet 58:329-332
-
(2000)
Clin Genet
, vol.58
, pp. 329-332
-
-
Shastry, B.S.1
Hejtmancik, J.F.2
Hiraoka, M.3
Ibaraki, N.4
Okubo, Y.5
Okubo, A.6
Han, D.P.7
Trese, M.T.8
-
26
-
-
0029039849
-
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy
-
Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT (1995) Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics 27:341-344
-
(1995)
Genomics
, vol.27
, pp. 341-344
-
-
Shastry, B.S.1
Hejtmancik, J.F.2
Plager, D.A.3
Hartzer, M.K.4
Trese, M.T.5
-
27
-
-
0030902358
-
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
-
Shastry BS, Hejtmancik JF, Trese MT (1997a) Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat 9:396-401
-
(1997)
Hum Mutat
, vol.9
, pp. 396-401
-
-
Shastry, B.S.1
Hejtmancik, J.F.2
Trese, M.T.3
-
28
-
-
0005640096
-
Molecular genetics of familial exudative vitreoretinopathy and Norrie disease
-
Shastry BS, Hiraoka M (2000) Molecular genetics of familial exudative vitreoretinopathy and Norrie disease. Curr Genomics 1:259-269
-
(2000)
Curr Genomics
, vol.1
, pp. 259-269
-
-
Shastry, B.S.1
Hiraoka, M.2
-
29
-
-
0031238615
-
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy
-
Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT (1997b) Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics 44:247-248
-
(1997)
Genomics
, vol.44
, pp. 247-248
-
-
Shastry, B.S.1
Liu, X.2
Hejtmancik, J.F.3
Plager, D.A.4
Trese, M.T.5
-
30
-
-
0031575703
-
Familial exudative vitreoretinopathy: Further evidence for genetic heterogeneity
-
Shastry BS, Trese MT (1997) Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 69:217-218
-
(1997)
Am J Med Genet
, vol.69
, pp. 217-218
-
-
Shastry, B.S.1
Trese, M.T.2
-
31
-
-
0024462304
-
Exclusion of Usher syndrome gene from much of chromosome 4
-
Smith RJH, Holcomb JD, Daiger SP, Caskey CT, Pelias MZ, Alford BR, Fontenot DD, Hejtmancik JF (1989) Exclusion of Usher syndrome gene from much of chromosome 4. Cytogenet Cell Genet 50:102-106
-
(1989)
Cytogenet Cell Genet
, vol.50
, pp. 102-106
-
-
Smith, R.J.H.1
Holcomb, J.D.2
Daiger, S.P.3
Caskey, C.T.4
Pelias, M.Z.5
Alford, B.R.6
Fontenot, D.D.7
Hejtmancik, J.F.8
-
32
-
-
12144288372
-
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
-
Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GCM, Downey LM, Zhang K, Inglehearn CF (2004) Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 74:721-730
-
(2004)
Am J Hum Genet
, vol.74
, pp. 721-730
-
-
Toomes, C.1
Bottomley, H.M.2
Jackson, R.M.3
Towns, K.V.4
Scott, S.5
Mackey, D.A.6
Craig, J.E.7
Jiang, L.8
Yang, Z.9
Trembath, R.10
Woodruff, G.11
Gregory-Evans, C.Y.12
Gregory-Evans, K.13
Parker, M.J.14
Black, G.C.M.15
Downey, L.M.16
Zhang, K.17
Inglehearn, C.F.18
-
33
-
-
0037373341
-
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
-
Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, de Vernejoul MC, Bollerslev J, Van Hul W (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72:763-771
-
(2003)
Am J Hum Genet
, vol.72
, pp. 763-771
-
-
Van Wesenbeeck, L.1
Cleiren, E.2
Gram, J.3
Beals, R.K.4
Bénichou, O.5
Scopelliti, D.6
Key, L.7
Renton, T.8
Bartels, C.9
Gong, Y.10
Warman, M.L.11
De Vernejoul, M.C.12
Bollerslev, J.13
Van Hul, W.14
-
34
-
-
12144289950
-
Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair
-
Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J (2004) Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 116:883-895
-
(2004)
Cell
, vol.116
, pp. 883-895
-
-
Xu, Q.1
Wang, Y.2
Dabdoub, A.3
Smallwood, P.M.4
Williams, J.5
Woods, C.6
Kelley, M.W.7
Jiang, L.8
Tasman, W.9
Zhang, K.10
Nathans, J.11
|