-
1
-
-
54149090275
-
-
World Health Organization, WHO-Press, Geneva, Switzerland
-
World Health Organization (2008) The Global Burdon of Disease: 2004 update WHO-Press, Geneva, Switzerland.
-
(2008)
The Global Burdon of Disease: 2004 Update
-
-
-
2
-
-
0027501191
-
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome
-
Warburg M, Sjö O, Fledelius HC, Pedersen SA, (1993) Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome. Am J Dis Child 147: 1309-1312.
-
(1993)
Am J Dis Child
, vol.147
, pp. 1309-1312
-
-
Warburg, M.1
Sjö, O.2
Fledelius, H.C.3
Pedersen, S.A.4
-
3
-
-
0019802934
-
A case of Marfan's syndrome in a black African
-
Menez B, (1981) A case of Marfan's syndrome in a black African. Med Trop (Mars) 41: 569-571.
-
(1981)
Med Trop (Mars)
, vol.41
, pp. 569-571
-
-
Menez, B.1
-
4
-
-
0031137641
-
Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form
-
Sanchez E, Munier F, Evéquoz B, Marcoz JP, Balmer A, (1997) Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form. Klin Monatsbl Augenheilkd 210: 329-331.
-
(1997)
Klin Monatsbl Augenheilkd
, vol.210
, pp. 329-331
-
-
Sanchez, E.1
Munier, F.2
Evéquoz, B.3
Marcoz, J.P.4
Balmer, A.5
-
5
-
-
20144376966
-
Mutations of the catalytic subunit of RABGAP cause Warburg Micro syndrome
-
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, et al. (2005) Mutations of the catalytic subunit of RABGAP cause Warburg Micro syndrome. Nat Genet 37: 221-223.
-
(2005)
Nat Genet
, vol.37
, pp. 221-223
-
-
Aligianis, I.A.1
Johnson, C.A.2
Gissen, P.3
Chen, D.4
Hampshire, D.5
-
6
-
-
0025886783
-
Marfan syndrome caused by a recurrent de novo missence mutation in the fibrillin gene
-
Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, et al. (1991) Marfan syndrome caused by a recurrent de novo missence mutation in the fibrillin gene. Nature 352: 337-339.
-
(1991)
Nature
, vol.352
, pp. 337-339
-
-
Dietz, H.C.1
Cutting, G.R.2
Pyeritz, R.E.3
Maslen, C.L.4
Sakai, L.Y.5
-
7
-
-
0030946632
-
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
-
Braverman N, Steel G, Obie C, Moser A, Moser H, et al. (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15: 369-376.
-
(1997)
Nat Genet
, vol.15
, pp. 369-376
-
-
Braverman, N.1
Steel, G.2
Obie, C.3
Moser, A.4
Moser, H.5
-
8
-
-
0031003680
-
Rhizomelic chondrodysplasia punctata is a peroximal protein targeting disease caused by a non-functional PTS2 receptor
-
Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, et al. (1997) Rhizomelic chondrodysplasia punctata is a peroximal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 15: 377-380.
-
(1997)
Nat Genet
, vol.15
, pp. 377-380
-
-
Motley, A.M.1
Hettema, E.H.2
Hogenhout, E.M.3
Brites, P.4
ten Asbroek, A.L.5
-
9
-
-
1842335689
-
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
-
Purdue PE, Zhang JW, Skoneczny M, Lazarow PB, (1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 15: 381-384.
-
(1997)
Nat Genet
, vol.15
, pp. 381-384
-
-
Purdue, P.E.1
Zhang, J.W.2
Skoneczny, M.3
Lazarow, P.B.4
-
10
-
-
25844440918
-
A protein canyon in the FGF-FGF receptor dimer selects from an à la carte menu of heparin sulphate motifs
-
Mohammadi M, Olsen SK, Goetz R, (2005) A protein canyon in the FGF-FGF receptor dimer selects from an à la carte menu of heparin sulphate motifs. Curr Opin Struc Biol 15: 506-516.
-
(2005)
Curr Opin Struc Biol
, vol.15
, pp. 506-516
-
-
Mohammadi, M.1
Olsen, S.K.2
Goetz, R.3
-
11
-
-
0028912638
-
Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice
-
Robinson ML, Overbeek PA, Verran DJ, Grizzle WE, Stockard CR, et al. (1995) Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice. Development 121: 505-514.
-
(1995)
Development
, vol.121
, pp. 505-514
-
-
Robinson, M.L.1
Overbeek, P.A.2
Verran, D.J.3
Grizzle, W.E.4
Stockard, C.R.5
-
12
-
-
0023412001
-
Evidence that fibroblast growth factor promotes lens fibre differentiation
-
Chamberlain CG, McAvoy JW, (1987) Evidence that fibroblast growth factor promotes lens fibre differentiation. Curr Eye Res 6: 1165-1169.
-
(1987)
Curr Eye Res
, vol.6
, pp. 1165-1169
-
-
Chamberlain, C.G.1
McAvoy, J.W.2
-
13
-
-
0024152068
-
Induction of lens fibre differentiation by acidic and basic fibroblast growth factor (FGF)
-
Chamberlain CG, McAvoy JW, (1989) Induction of lens fibre differentiation by acidic and basic fibroblast growth factor (FGF). Growth factors 1: 125-134.
-
(1989)
Growth Factors
, vol.1
, pp. 125-134
-
-
Chamberlain, C.G.1
McAvoy, J.W.2
-
14
-
-
0024458628
-
Fibroblast growth factor (FGF) induces different responses in lens epithelial cells depending on its concentration
-
McAvoy JW, Chamberlain CG, (1989) Fibroblast growth factor (FGF) induces different responses in lens epithelial cells depending on its concentration. Development 107: 221-228.
-
(1989)
Development
, vol.107
, pp. 221-228
-
-
McAvoy, J.W.1
Chamberlain, C.G.2
-
15
-
-
0032101553
-
Disregulation of ocular morphogenesis by lens-specific expression of FGF-3/int-2 in transgenic mice
-
Robinson ML, Ohtaka-Maruyama C, Chan CC, Jamieson S, Dickson C, et al. (1998) Disregulation of ocular morphogenesis by lens-specific expression of FGF-3/int-2 in transgenic mice. Dev Biol 198: 13-31.
-
(1998)
Dev Biol
, vol.198
, pp. 13-31
-
-
Robinson, M.L.1
Ohtaka-Maruyama, C.2
Chan, C.C.3
Jamieson, S.4
Dickson, C.5
-
16
-
-
0031595782
-
Overlapping effects of different members of the FGF family on lens fiber differentiation in transgenic mice
-
Lovicu FJ, Overbeek PA, (1998) Overlapping effects of different members of the FGF family on lens fiber differentiation in transgenic mice. Development 125: 3365-3377.
-
(1998)
Development
, vol.125
, pp. 3365-3377
-
-
Lovicu, F.J.1
Overbeek, P.A.2
-
17
-
-
0035692004
-
Patterning the optic neuroepithelium by FGF signalling and Ras activation
-
Zhao S, Hung FC, Colvin JS, White A, Dai W, et al. (2001) Patterning the optic neuroepithelium by FGF signalling and Ras activation. Development 128: 5051-5060.
-
(2001)
Development
, vol.128
, pp. 5051-5060
-
-
Zhao, S.1
Hung, F.C.2
Colvin, J.S.3
White, A.4
Dai, W.5
-
18
-
-
0034956610
-
Lung hypoplasia and neonatal death in Fgf9-null mice identify this gene as an essential regulator of lung mesenchyme
-
Colvin JS, White AC, Pratt SJ, Ornitz DM, (2001) Lung hypoplasia and neonatal death in Fgf9-null mice identify this gene as an essential regulator of lung mesenchyme. Development 128: 2095-2106.
-
(2001)
Development
, vol.128
, pp. 2095-2106
-
-
Colvin, J.S.1
White, A.C.2
Pratt, S.J.3
Ornitz, D.M.4
-
19
-
-
0035937405
-
Male-to-female sex reversal in mice lacking fibroblast growth factor 9
-
Colvin JS, Green RP, Schmahl J, Capel B, Ornitz DM, (2001) Male-to-female sex reversal in mice lacking fibroblast growth factor 9. Cell 104: 875-889.
-
(2001)
Cell
, vol.104
, pp. 875-889
-
-
Colvin, J.S.1
Green, R.P.2
Schmahl, J.3
Capel, B.4
Ornitz, D.M.5
-
20
-
-
42049119397
-
Cellular signalling by fibroblast growth factors (FGFs) and their receptors (FGFRs) in male reproduction
-
Cotton LM, O'Bryan MK, Hinton BT, (2008) Cellular signalling by fibroblast growth factors (FGFs) and their receptors (FGFRs) in male reproduction. Endocr Rev 29: 193-216.
-
(2008)
Endocr Rev
, vol.29
, pp. 193-216
-
-
Cotton, L.M.1
O'Bryan, M.K.2
Hinton, B.T.3
-
21
-
-
0036017941
-
Elbow knee synostosis (Eks): a new mutation on mouse chromosome 14
-
Murakami H, Okawa A, Yoshida H, Nishikawa S, Moriya H, et al. (2002) Elbow knee synostosis (Eks): a new mutation on mouse chromosome 14. Mamm Gen 13: 341-344.
-
(2002)
Mamm Gen
, vol.13
, pp. 341-344
-
-
Murakami, H.1
Okawa, A.2
Yoshida, H.3
Nishikawa, S.4
Moriya, H.5
-
22
-
-
61349091627
-
FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion
-
Harada M, Murakami H, Okawa A, Okimoto N, Hiraoka S, et al. (2009) FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion. Nat Genet 41: 289-298.
-
(2009)
Nat Genet
, vol.41
, pp. 289-298
-
-
Harada, M.1
Murakami, H.2
Okawa, A.3
Okimoto, N.4
Hiraoka, S.5
-
23
-
-
0034425715
-
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
-
Hrabé de Angelis M, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, et al. (2000) Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 25: 444-447.
-
(2000)
Nat Genet
, vol.25
, pp. 444-447
-
-
Hrabé de Angelis, M.1
Flaswinkel, H.2
Fuchs, H.3
Rathkolb, B.4
Soewarto, D.5
-
24
-
-
33747151091
-
Variations of eye size parameters among different strains of mice
-
Puk O, Dalke C, Favor J, Hrabé de Angelis M, Graw J, (2006) Variations of eye size parameters among different strains of mice. Mamm Gen 17: 851-857.
-
(2006)
Mamm Gen
, vol.17
, pp. 851-857
-
-
Puk, O.1
Dalke, C.2
Favor, J.3
Hrabé de Angelis, M.4
Graw, J.5
-
25
-
-
0031283282
-
Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice
-
Gong X, Li E, Klier G, Huang Q, Wu Y, et al. (1997) Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 91: 833-843.
-
(1997)
Cell
, vol.91
, pp. 833-843
-
-
Gong, X.1
Li, E.2
Klier, G.3
Huang, Q.4
Wu, Y.5
-
26
-
-
0036544554
-
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
-
Pazour GJ, Baker SA, Deane JA, Cole DG, Dickert BL, et al. (2002) The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J Cell Biol 157: 103-113.
-
(2002)
J Cell Biol
, vol.157
, pp. 103-113
-
-
Pazour, G.J.1
Baker, S.A.2
Deane, J.A.3
Cole, D.G.4
Dickert, B.L.5
-
27
-
-
14044250869
-
Expression and possible function of fibroblast growth factor 9 (FGF9) and its cognate receptors FGFR2 and FGFR3 in postnatal and adult retina
-
Cinaroglu A, Ozmen Y, Ozdemir A, Ozcan F, Ergorul C, et al. (2005) Expression and possible function of fibroblast growth factor 9 (FGF9) and its cognate receptors FGFR2 and FGFR3 in postnatal and adult retina. J Neurosci Res 79: 329-339.
-
(2005)
J Neurosci Res
, vol.79
, pp. 329-339
-
-
Cinaroglu, A.1
Ozmen, Y.2
Ozdemir, A.3
Ozcan, F.4
Ergorul, C.5
-
28
-
-
68849110534
-
Homodimerization controls the fibroblast growth factor 9 subfamily's receptor binding and heparan sulfate-dependent diffusion in the extracellular matrix
-
Kalinina J, Byron SA, Makarenkova HP, Olsen SK, Eliseenkova AV, et al. (2009) Homodimerization controls the fibroblast growth factor 9 subfamily's receptor binding and heparan sulfate-dependent diffusion in the extracellular matrix. Mol Cell Biol 29: 4663-4678.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 4663-4678
-
-
Kalinina, J.1
Byron, S.A.2
Makarenkova, H.P.3
Olsen, S.K.4
Eliseenkova, A.V.5
-
29
-
-
67649861367
-
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene
-
Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, et al. (2009) Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet 85: 53-63.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 53-63
-
-
Wu, X.L.1
Gu, M.M.2
Huang, L.3
Liu, X.S.4
Zhang, H.X.5
-
30
-
-
0035830878
-
Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition
-
Plotnikov AN, Eliseenkova AV, Ibrahimi OA, Shriver Z, Sasisekharan R, et al. (2001) Crystal structure of fibroblast growth factor 9 reveals regions implicated in dimerization and autoinhibition. J Biol Chem 276: 4322-4329.
-
(2001)
J Biol Chem
, vol.276
, pp. 4322-4329
-
-
Plotnikov, A.N.1
Eliseenkova, A.V.2
Ibrahimi, O.A.3
Shriver, Z.4
Sasisekharan, R.5
-
31
-
-
24644519490
-
The transcriptional landscape of the mammalian genome
-
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, et al. (2005) The transcriptional landscape of the mammalian genome. Science 309: 1559-1563.
-
(2005)
Science
, vol.309
, pp. 1559-1563
-
-
Carninci, P.1
Kasukawa, T.2
Katayama, S.3
Gough, J.4
Frith, M.C.5
-
32
-
-
0032857909
-
Genomic organization and embryonic expression of the mouse fibroblast growth factor 9 gene
-
Colvin JS, Feldman B, Nadeau JH, Goldfarb M, Ornitz DM, (1999) Genomic organization and embryonic expression of the mouse fibroblast growth factor 9 gene. Dev Dyn 216: 72-88.
-
(1999)
Dev Dyn
, vol.216
, pp. 72-88
-
-
Colvin, J.S.1
Feldman, B.2
Nadeau, J.H.3
Goldfarb, M.4
Ornitz, D.M.5
-
33
-
-
21244473773
-
Comprehensive expression atlas of fibroblast growth factors and their receptors generated by a novel robotic in situ hybridization platform
-
Yaylaoglu MB, Titmus A, Visel A, Alvarez-Bolado G, Thaller C, et al. (2005) Comprehensive expression atlas of fibroblast growth factors and their receptors generated by a novel robotic in situ hybridization platform. Dev Dyn 234: 371-386.
-
(2005)
Dev Dyn
, vol.234
, pp. 371-386
-
-
Yaylaoglu, M.B.1
Titmus, A.2
Visel, A.3
Alvarez-Bolado, G.4
Thaller, C.5
-
34
-
-
14844323116
-
Growth factor regulation of lens development
-
Lovicu FJ, McAvoy JW, (2005) Growth factor regulation of lens development. Dev Biol 280: 1-14.
-
(2005)
Dev Biol
, vol.280
, pp. 1-14
-
-
Lovicu, F.J.1
McAvoy, J.W.2
-
35
-
-
33846401811
-
An essential role for FGF receptor signalling in lens development
-
Robinson ML, (2006) An essential role for FGF receptor signalling in lens development. Semin Cell Dev Biol 17: 726-740.
-
(2006)
Semin Cell Dev Biol
, vol.17
, pp. 726-740
-
-
Robinson, M.L.1
-
36
-
-
45549100531
-
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype
-
Puk O, Löster J, Dalke C, Soewarto D, Fuchs H, et al. (2008) Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Invest Ophthalmol Vis Sci 49: 1525-1532.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 1525-1532
-
-
Puk, O.1
Löster, J.2
Dalke, C.3
Soewarto, D.4
Fuchs, H.5
-
37
-
-
0031833887
-
Structural changes in lenses of mice lacking the gap junction protein connexin 43
-
Gao Y, Spray DC, (1998) Structural changes in lenses of mice lacking the gap junction protein connexin 43. Invest Ophthalmol Vis Sci 39: 1198-1209.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 1198-1209
-
-
Gao, Y.1
Spray, D.C.2
-
38
-
-
33746085618
-
Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout mice
-
Dunia I, Cibert C, Gong X, Xia C, Recouvreur M, et al. (2006) Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout mice. Eur J Cell Biol 85: 729-752.
-
(2006)
Eur J Cell Biol
, vol.85
, pp. 729-752
-
-
Dunia, I.1
Cibert, C.2
Gong, X.3
Xia, C.4
Recouvreur, M.5
-
39
-
-
0036023359
-
Disruption of Gja8 (α8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation
-
Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, et al. (2002) Disruption of Gja8 (α8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development 129: 167-174.
-
(2002)
Development
, vol.129
, pp. 167-174
-
-
Rong, P.1
Wang, X.2
Niesman, I.3
Wu, Y.4
Benedetti, L.E.5
-
41
-
-
44349136203
-
Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation
-
Zhao H, Yang T, Madakashira BP, Thiels CA, Bechtle CA, et al. (2008) Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation. Dev Biol 318: 276-288.
-
(2008)
Dev Biol
, vol.318
, pp. 276-288
-
-
Zhao, H.1
Yang, T.2
Madakashira, B.P.3
Thiels, C.A.4
Bechtle, C.A.5
-
42
-
-
0022256847
-
Induction of gene mutations in mice: the multiple endpoint approach
-
Ehling UH, Charles DJ, Favor J, Graw J, Kratochvilova J, et al. (1985) Induction of gene mutations in mice: the multiple endpoint approach. Mutat Res 150: 393-401.
-
(1985)
Mutat Res
, vol.150
, pp. 393-401
-
-
Ehling, U.H.1
Charles, D.J.2
Favor, J.3
Graw, J.4
Kratochvilova, J.5
-
43
-
-
34248187585
-
Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe b-cell loss in Munich Ins2C95S mutant mice
-
Herbach N, Rathkolb B, Kemter E, Pichl L, Klaften M, et al. (2007) Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe b-cell loss in Munich Ins2C95S mutant mice. Diabetes 56: 1268-1276.
-
(2007)
Diabetes
, vol.56
, pp. 1268-1276
-
-
Herbach, N.1
Rathkolb, B.2
Kemter, E.3
Pichl, L.4
Klaften, M.5
-
44
-
-
0035747672
-
Enhancement of protein modelling by human intervention in applying the automatic programs 3D-JIGSAW and 3D-PSSM
-
Bates PA, Kelley LA, MacCallum RM, Sternberg MJE, (2001) Enhancement of protein modelling by human intervention in applying the automatic programs 3D-JIGSAW and 3D-PSSM. Proteins Suppl 5: 39-46.
-
(2001)
Proteins
, vol.Suppl 5
, pp. 39-46
-
-
Bates, P.A.1
Kelley, L.A.2
MacCallum, R.M.3
Sternberg, M.J.E.4
-
45
-
-
0035047419
-
Improved preparation and crystallization of 25 kDa human fibroblast growth factor - 9
-
Koyama N, Ohmae H, Tsuji S, Tanaka Y, Kurokawa T, et al. (2001) Improved preparation and crystallization of 25 kDa human fibroblast growth factor - 9. Biotechnol Appl Biochem 33: 117-121.
-
(2001)
Biotechnol Appl Biochem
, vol.33
, pp. 117-121
-
-
Koyama, N.1
Ohmae, H.2
Tsuji, S.3
Tanaka, Y.4
Kurokawa, T.5
-
46
-
-
3242809001
-
In vivo biometry in the mouse eye with low coherence interferometry
-
Schmucker C, Schäffel F, (2004) In vivo biometry in the mouse eye with low coherence interferometry. Vis Res 44: 2445-2456.
-
(2004)
Vis Res
, vol.44
, pp. 2445-2456
-
-
Schmucker, C.1
Schäffel, F.2
-
47
-
-
9444222740
-
Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system
-
Prusky GT, Alam NM, Beekman S, Douglas RM, (2004) Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system. Invest Ophthalmol Vis Sci 45: 4611-4616.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 4611-4616
-
-
Prusky, G.T.1
Alam, N.M.2
Beekman, S.3
Douglas, R.M.4
-
48
-
-
9144242396
-
Electroretinography as a screening method for mutations causing retinal dysfunction in mice
-
Dalke C, Löster J, Fuchs H, Gailus-Durner V, Soewarto D, et al. (2004) Electroretinography as a screening method for mutations causing retinal dysfunction in mice. Invest Ophthalmol Vis Sci 45: 601-609.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 601-609
-
-
Dalke, C.1
Löster, J.2
Fuchs, H.3
Gailus-Durner, V.4
Soewarto, D.5
|