-
1
-
-
0035831046
-
EGF receptor and Notch signalling act upstream of eyeless/Pax6 to control eye specification
-
Kumar JP, Moses K (2001) EGF receptor and Notch signalling act upstream of eyeless/Pax6 to control eye specification. Cell 104:687-697
-
(2001)
Cell
, vol.104
, pp. 687-697
-
-
Kumar, J.P.1
Moses, K.2
-
2
-
-
0033198374
-
Pax6: Mastering eye morphogenesis and eye evolution
-
Gehring WJ, Ikeo K (1999) Pax6: Mastering eye morphogenesis and eye evolution. Trends Genet 15:371-377
-
(1999)
Trends Genet
, vol.15
, pp. 371-377
-
-
Gehring, W.J.1
Ikeo, K.2
-
3
-
-
0033649154
-
Early retinal development in Drosophila
-
Fini ME, ed. Springer-Verlag, Berlin
-
Heberlein U, Treisman JE (2000) Early retinal development in Drosophila, in Vertebrate Eye Development (Fini ME, ed.) pp. 37-50. Springer-Verlag, Berlin
-
(2000)
Vertebrate Eye Development
, pp. 37-50
-
-
Heberlein, U.1
Treisman, J.E.2
-
4
-
-
0033648497
-
Pax6 and the genetic control of early eye development
-
Fini ME, ed. Springer-Verlag, Berlin
-
Wawerski S, Purcell P, Maas RL (2000) Pax6 and the genetic control of early eye development, in Vertebrate Eye Development (Fini ME, ed.) pp. 15-36. Springer-Verlag, Berlin
-
(2000)
Vertebrate Eye Development
, pp. 15-36
-
-
Wawerski, S.1
Purcell, P.2
Maas, R.L.3
-
5
-
-
0003382907
-
Transcription factors in eye disease and ocular development
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. McGraw-Hill, New York
-
Horsford DJ, Hanson I, Freund C, McInnes RR, van Heyningen V (2000) Transcription factors in eye disease and ocular development, in The Metabolic and Molecular Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds) pp. 5987-6032. McGraw-Hill, New York
-
(2000)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 5987-6032
-
-
Horsford, D.J.1
Hanson, I.2
Freund, C.3
McInnes, R.R.4
Van Heyningen, V.5
-
6
-
-
0033573001
-
From insect eye to vertebrate muscle: Redeployment of a regulatory network
-
Relaix F, Buckingham M (1999) From insect eye to vertebrate muscle: Redeployment of a regulatory network. Genes Dev 13:3171-3178
-
(1999)
Genes Dev
, vol.13
, pp. 3171-3178
-
-
Relaix, F.1
Buckingham, M.2
-
7
-
-
0033105606
-
Twin of eyeless, a second Pax-6 gene of Drosophila, acts upstream of eyeless in the control of eye development
-
Czerny T, Halder G, Kloter U, Souabni A, Gehring WJ, Busslinger M (1999) Twin of eyeless, a second Pax-6 gene of Drosophila, acts upstream of eyeless in the control of eye development. Mol Cell 3:297-307
-
(1999)
Mol Cell
, vol.3
, pp. 297-307
-
-
Czerny, T.1
Halder, G.2
Kloter, U.3
Souabni, A.4
Gehring, W.J.5
Busslinger, M.6
-
8
-
-
0035815295
-
Pax6 is required for the multipotent state of retinal progenitor cells
-
Marquardt T, Ashery-Padan R, Andrejewski N, Scardigli R, Guillemot F, Gruss P (2001) Pax6 is required for the multipotent state of retinal progenitor cells. Cell 105:43-55
-
(2001)
Cell
, vol.105
, pp. 43-55
-
-
Marquardt, T.1
Ashery-Padan, R.2
Andrejewski, N.3
Scardigli, R.4
Guillemot, F.5
Gruss, P.6
-
9
-
-
0030219742
-
Lens development and crystallin gene expression: Many roles for Pax-6
-
Cvekl A, Piatigorsky J (1996) Lens development and crystallin gene expression: Many roles for Pax-6. BioEssays 18:621-630
-
(1996)
BioEssays
, vol.18
, pp. 621-630
-
-
Cvekl, A.1
Piatigorsky, J.2
-
10
-
-
0035873448
-
Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development
-
Kamachi Y, Uchikawa M, Tanouchi A, Sekido R, Kondoh H (2001) Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev 15:1272-1286
-
(2001)
Genes Dev
, vol.15
, pp. 1272-1286
-
-
Kamachi, Y.1
Uchikawa, M.2
Tanouchi, A.3
Sekido, R.4
Kondoh, H.5
-
11
-
-
0032506240
-
Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition
-
Jun S, Wallen RV, Goriely A, Kalionis B, Desplan C (1998) Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition. Proc Natl Acad Sci USA 95:13720-13725
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13720-13725
-
-
Jun, S.1
Wallen, R.V.2
Goriely, A.3
Kalionis, B.4
Desplan, C.5
-
12
-
-
0031027150
-
Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
-
Xu PX, Woo I, Her H, Beier DR, Maas RL (1997) Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development 124:219-231
-
(1997)
Development
, vol.124
, pp. 219-231
-
-
Xu, P.X.1
Woo, I.2
Her, H.3
Beier, D.R.4
Maas, R.L.5
-
13
-
-
0031046284
-
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
-
Abdelhak S et al. (1997) A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157-164
-
(1997)
Nat Genet
, vol.15
, pp. 157-164
-
-
Abdelhak, S.1
-
14
-
-
0032905164
-
EYA4, a novel vertebrate gene related to Drosophila eyes absent
-
Borsani G et al. (1999) EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 8:11-23
-
(1999)
Hum Mol Genet
, vol.8
, pp. 11-23
-
-
Borsani, G.1
-
15
-
-
0031444287
-
The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development
-
Pignoni F, Hu B, Zavitz KH, Xiao J, Garrity PA, Zipursky SL (1997) The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 91:881-891
-
(1997)
Cell
, vol.91
, pp. 881-891
-
-
Pignoni, F.1
Hu, B.2
Zavitz, K.H.3
Xiao, J.4
Garrity, P.A.5
Zipursky, S.L.6
-
16
-
-
0032825495
-
Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya
-
Ohto H, Kamada S, Tago K, Tominaga SI, Ozaki H, Sato S, Kawakami K (1999) Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. Mol Cell Biol 19:6815-6824
-
(1999)
Mol Cell Biol
, vol.19
, pp. 6815-6824
-
-
Ohto, H.1
Kamada, S.2
Tago, K.3
Tominaga, S.I.4
Ozaki, H.5
Sato, S.6
Kawakami, K.7
-
17
-
-
0034051280
-
Molecular analysis of Drosophila eyes absent mutants reveals features of the conserved Eya domain
-
Bui QT, Zimmerman JE, Liu H, Bonini NM (2000) Molecular analysis of Drosophila eyes absent mutants reveals features of the conserved Eya domain. Genetics 155:709-720
-
(2000)
Genetics
, vol.155
, pp. 709-720
-
-
Bui, Q.T.1
Zimmerman, J.E.2
Liu, H.3
Bonini, N.M.4
-
18
-
-
0031443669
-
Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye development in Drosophila
-
Chen R, Amoui M, Zhang Z, Mardon G (1997) Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye development in Drosophila. Cell 91:893-903
-
(1997)
Cell
, vol.91
, pp. 893-903
-
-
Chen, R.1
Amoui, M.2
Zhang, Z.3
Mardon, G.4
-
19
-
-
0033573003
-
Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation
-
Heanue TA, Reshef R, Davis RJ, Mardon G, Oliver G, Tomarev S, Lassar AB, Tabin CJ (1999) Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation. Genes Dev 13:3231-3243
-
(1999)
Genes Dev
, vol.13
, pp. 3231-3243
-
-
Heanue, T.A.1
Reshef, R.2
Davis, R.J.3
Mardon, G.4
Oliver, G.5
Tomarev, S.6
Lassar, A.B.7
Tabin, C.J.8
-
20
-
-
0034644469
-
The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins
-
Fan X, Brass LF, Poncz M, Spitz F, Maire P, Manning DR (2000) The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins. J Biol Chem 275:32129-32134
-
(2000)
J Biol Chem
, vol.275
, pp. 32129-32134
-
-
Fan, X.1
Brass, L.F.2
Poncz, M.3
Spitz, F.4
Maire, P.5
Manning, D.R.6
-
21
-
-
0032967569
-
Six class homeobox genes in drosophila belong to three distinct families and are involved in head development
-
Seo HC, Curtiss J, Mlodzik M, Fjose A (1999) Six class homeobox genes in drosophila belong to three distinct families and are involved in head development. Mech Dev 83:127-319
-
(1999)
Mech Dev
, vol.83
, pp. 127-319
-
-
Seo, H.C.1
Curtiss, J.2
Mlodzik, M.3
Fjose, A.4
-
22
-
-
0035838315
-
The Drosophila homologue of the myotonic dystrophy associated gene, SIX5, is required for muscle and gonad development
-
Kirby RJ, Hamilton G, Finnegan DJ, Johnson KJ, Jarman AP (2001) The Drosophila homologue of the myotonic dystrophy associated gene, SIX5, is required for muscle and gonad development. Curr Biol 11:1044-1049
-
(2001)
Curr Biol
, vol.11
, pp. 1044-1049
-
-
Kirby, R.J.1
Hamilton, G.2
Finnegan, D.J.3
Johnson, K.J.4
Jarman, A.P.5
-
23
-
-
0033924215
-
Six family genes - Structure and function as transcription factors and their roles in development
-
Kawakami K, Sato S, Ozaki H, Ikeda K (2000) Six family genes - Structure and function as transcription factors and their roles in development. BioEssays 22:616-626
-
(2000)
BioEssays
, vol.22
, pp. 616-626
-
-
Kawakami, K.1
Sato, S.2
Ozaki, H.3
Ikeda, K.4
-
24
-
-
0034023675
-
The Drosophila homeobox gene optix is capable of inducing ectopic eyes by an eyeless-independent mechanism
-
Seimiya M, Gehring WJ (2000) The Drosophila homeobox gene optix is capable of inducing ectopic eyes by an eyeless-independent mechanism. Development 127:1879-1886
-
(2000)
Development
, vol.127
, pp. 1879-1886
-
-
Seimiya, M.1
Gehring, W.J.2
-
25
-
-
0032564423
-
Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site
-
Spitz F, Demignon J, Porteu A, Kahn A, Concordet JP, Daegelen D, Maire P (1998) Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site. Proc Natl Acad Sci USA 95:14220-14225
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 14220-14225
-
-
Spitz, F.1
Demignon, J.2
Porteu, A.3
Kahn, A.4
Concordet, J.P.5
Daegelen, D.6
Maire, P.7
-
26
-
-
0032102759
-
Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb
-
Hammond KL, Hanson IM, Brown AG, Lettice LA, Hill RE (1998) Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb. Mech Dev 74:121-131
-
(1998)
Mech Dev
, vol.74
, pp. 121-131
-
-
Hammond, K.L.1
Hanson, I.M.2
Brown, A.G.3
Lettice, L.A.4
Hill, R.E.5
-
27
-
-
0035061027
-
Characterization of mouse Dach2, a homologue of Drosophila dachshund
-
Davis RJ, Shen W, Sandler YI, Heanue TA, Mardon G (2001) Characterization of mouse Dach2, a homologue of Drosophila dachshund. Mech Dev 102:169-179
-
(2001)
Mech Dev
, vol.102
, pp. 169-179
-
-
Davis, R.J.1
Shen, W.2
Sandler, Y.I.3
Heanue, T.A.4
Mardon, G.5
-
28
-
-
0033638083
-
Smad transcriptional core-pressors in TGF beta family signaling
-
Wotton D, Massague J (2001) Smad transcriptional core-pressors in TGF beta family signaling. Curr Top Microbiol Immunol 254:145-164
-
(2001)
Curr Top Microbiol Immunol
, vol.254
, pp. 145-164
-
-
Wotton, D.1
Massague, J.2
-
29
-
-
0033557219
-
Heterodimers of the SnoN and Ski oncoproteins form preferentially over homodimers and are more potent transforming agents
-
Cohen SB, Zheng G, Heyman HC, Stavnezer E (1999) Heterodimers of the SnoN and Ski oncoproteins form preferentially over homodimers and are more potent transforming agents. Nucleic Acids Res 27:1006-1014
-
(1999)
Nucleic Acids Res
, vol.27
, pp. 1006-1014
-
-
Cohen, S.B.1
Zheng, G.2
Heyman, H.C.3
Stavnezer, E.4
-
30
-
-
0343278977
-
Yeast two-hybrid system identifies the ubiquitin-conjugating enzyme mUbc9 as a potential partner of mouse Dac
-
Machon O, Backman M, Julin K, Krauss S (2000) Yeast two-hybrid system identifies the ubiquitin-conjugating enzyme mUbc9 as a potential partner of mouse Dac. Mech Dev 97:3-12
-
(2000)
Mech Dev
, vol.97
, pp. 3-12
-
-
Machon, O.1
Backman, M.2
Julin, K.3
Krauss, S.4
-
32
-
-
0034121519
-
Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye
-
Collinson JM, Hill RE, West JD (2000) Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye. Development 127:945-956
-
(2000)
Development
, vol.127
, pp. 945-956
-
-
Collinson, J.M.1
Hill, R.E.2
West, J.D.3
-
33
-
-
0034312313
-
Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye
-
Ashery-Padan R, Marquardt T, Zhou X, Gruss P (2000) Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye. Genes Dev 14:2701-2711
-
(2000)
Genes Dev
, vol.14
, pp. 2701-2711
-
-
Ashery-Padan, R.1
Marquardt, T.2
Zhou, X.3
Gruss, P.4
-
34
-
-
0033655705
-
Molecular control of cell diversification in the vertebrate retina
-
Fini ME, ed. Springer-Verlag, Berlin
-
Fuhrmann S, Chow L, Reh TA (2000) Molecular control of cell diversification in the vertebrate retina, in Vertebrate Eye Development (Fini ME, ed.) pp. 69-91. Springer-Verlag, Berlin
-
(2000)
Vertebrate Eye Development
, pp. 69-91
-
-
Fuhrmann, S.1
Chow, L.2
Reh, T.A.3
-
35
-
-
0032899711
-
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
-
Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, Meire F, van Heyningen V (1999) Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 8:165-172
-
(1999)
Hum Mol Genet
, vol.8
, pp. 165-172
-
-
Hanson, I.1
Churchill, A.2
Love, J.3
Axton, R.4
Moore, T.5
Clarke, M.6
Meire, F.7
Van Heyningen, V.8
-
36
-
-
0033362155
-
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
-
Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656-663
-
(1999)
Am J Hum Genet
, vol.65
, pp. 656-663
-
-
Azuma, N.1
Yamaguchi, Y.2
Handa, H.3
Hayakawa, M.4
Kanai, A.5
Yamada, M.6
-
37
-
-
0035871139
-
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
-
Singh S, Chao LY, Mishra R, Davies J, Saunders GF (2001) Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet 10:911-918
-
(2001)
Hum Mol Genet
, vol.10
, pp. 911-918
-
-
Singh, S.1
Chao, L.Y.2
Mishra, R.3
Davies, J.4
Saunders, G.F.5
-
38
-
-
0034610337
-
3′ deletions cause aniridia by preventing PAX6 gene expression
-
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T (2000) 3′ deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci USA 97:13755-13759
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13755-13759
-
-
Lauderdale, J.D.1
Wilensky, J.S.2
Oliver, E.R.3
Walton, D.S.4
Glaser, T.5
-
39
-
-
0034782502
-
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison, and transgenic analysis redefine the functional domain of PAX6
-
in press
-
Kleinjan DA, Seawright A, Schedl A, Quinlan RA, Danes S, van Heyningen V (2001) Aniridia-associated translocations, DNase hypersensitivity, sequence comparison, and transgenic analysis redefine the functional domain of PAX6. Hum Mol Genet (in press)
-
(2001)
Hum Mol Genet
-
-
Kleinjan, D.A.1
Seawright, A.2
Schedl, A.3
Quinlan, R.A.4
Danes, S.5
Van Heyningen, V.6
-
40
-
-
0032842838
-
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
-
Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R (1999) Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23:113-117
-
(1999)
Nat Genet
, vol.23
, pp. 113-117
-
-
Xu, P.X.1
Adams, J.2
Peters, H.3
Brown, M.C.4
Heaney, S.5
Maas, R.6
-
41
-
-
0002680860
-
Hereditary hearing loss
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. McGraw-Hill, New York
-
Petit C, Levilliers J, Marlin S, Hardelin J-P (2000) Hereditary hearing loss, in The Metabolic and Molecular Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds) pp. 6281-6328. McGraw-Hill, New York
-
(2000)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 6281-6328
-
-
Petit, C.1
Levilliers, J.2
Marlin, S.3
Hardelin, J.-P.4
-
42
-
-
0034639683
-
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies
-
Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 9:363-366
-
(2000)
Hum Mol Genet
, vol.9
, pp. 363-366
-
-
Azuma, N.1
Hirakiyama, A.2
Inoue, T.3
Asaka, A.4
Yamada, M.5
-
43
-
-
0035253743
-
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
-
Wayne S et al. (2001) Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 10:195-200
-
(2001)
Hum Mol Genet
, vol.10
, pp. 195-200
-
-
Wayne, S.1
-
44
-
-
0032169577
-
The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes
-
Toy J, Yang JM, Leppert GS, Sundin OH (1998) The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes. Proc Natl Acad Sci USA 95:10643-10648
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10643-10648
-
-
Toy, J.1
Yang, J.M.2
Leppert, G.S.3
Sundin, O.H.4
-
45
-
-
0032826288
-
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies
-
Gallardo ME et al. (1999) Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics 61:82-91
-
(1999)
Genomics
, vol.61
, pp. 82-91
-
-
Gallardo, M.E.1
-
46
-
-
0033558871
-
Six3 overexpression initiates the formation of ectopic retina
-
Loosli F, Winkler S, Wittbrodt J (1999) Six3 overexpression initiates the formation of ectopic retina. Genes Dev 13:649-654
-
(1999)
Genes Dev
, vol.13
, pp. 649-654
-
-
Loosli, F.1
Winkler, S.2
Wittbrodt, J.3
-
47
-
-
0033529653
-
Giant eyes in Xenopus laevis by overexpression of XOptx2
-
Zuber ME, Perron M, Philpott A, Bang A, Harris WA (1999) Giant eyes in Xenopus laevis by overexpression of XOptx2. Cell 98:341-352
-
(1999)
Cell
, vol.98
, pp. 341-352
-
-
Zuber, M.E.1
Perron, M.2
Philpott, A.3
Bang, A.4
Harris, W.A.5
-
48
-
-
0035863935
-
Antagonistic action of Six3 and Prox1 at the gamma-crystallin promoter
-
Lengler J, Krausz E, Tomarev S, Prescott A, Quinlan RA, Graw J (2001) Antagonistic action of Six3 and Prox1 at the gamma-crystallin promoter. Nucleic Acids Res 29:515-526
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 515-526
-
-
Lengler, J.1
Krausz, E.2
Tomarev, S.3
Prescott, A.4
Quinlan, R.A.5
Graw, J.6
-
49
-
-
0033064156
-
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
-
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M (1999) Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 22:196-198
-
(1999)
Nat Genet
, vol.22
, pp. 196-198
-
-
Wallis, D.E.1
Roessler, E.2
Hehr, U.3
Nanni, L.4
Wiltshire, T.5
Richieri-Costa, A.6
Gillessen-Kaesbach, G.7
Zackai, E.H.8
Rommens, J.9
Muenke, M.10
-
50
-
-
0001373955
-
Holoprosencephaly
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. McGraw-Hill, New York
-
Meunke M, Beachy PA (2001) Holoprosencephaly, in The Metabolic and Molecular Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds) pp. 6203-6230. McGraw-Hill, New York
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 6203-6230
-
-
Meunke, M.1
Beachy, P.A.2
-
51
-
-
0001810823
-
Myotonic dystrophy
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. McGraw-Hill, New York
-
Harper PS, Johnson K (2001) Myotonic dystrophy, in The Metabolic and Molecular Basis of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, eds) pp. 5525-5527. McGraw-Hill, New York
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 5525-5527
-
-
Harper, P.S.1
Johnson, K.2
-
52
-
-
0032977087
-
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
-
Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson (1999) Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet 8:481-492
-
(1999)
Hum Mol Genet
, vol.8
, pp. 481-492
-
-
Winchester, C.L.1
Ferrier, R.K.2
Sermoni, A.3
Clark, B.J.4
Johnson5
-
53
-
-
0034103010
-
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts
-
Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W, Chai Y, Stout JT, Reddy S (2000) Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 25:110-114
-
(2000)
Nat Genet
, vol.25
, pp. 110-114
-
-
Sarkar, P.S.1
Appukuttan, B.2
Han, J.3
Ito, Y.4
Ai, C.5
Tsai, W.6
Chai, Y.7
Stout, J.T.8
Reddy, S.9
-
54
-
-
0034019306
-
Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
-
Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L, Yuen EC, Soriano P, Tapscott SJ (2000) Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy. Nat Genet 25:105-109
-
(2000)
Nat Genet
, vol.25
, pp. 105-109
-
-
Klesert, T.R.1
Cho, D.H.2
Clark, J.I.3
Maylie, J.4
Adelman, J.5
Snider, L.6
Yuen, E.C.7
Soriano, P.8
Tapscott, S.J.9
-
55
-
-
0035135340
-
Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality
-
Davis RJ, Shen W, Sandler YI, Amoui M, Purcell P, Maas R, Ou CN, Vogel H, Beaudet AL, Mardon G (2001) Dach1 mutant mice bear no gross abnormalities in eye, limb, and brain development and exhibit postnatal lethality. Mol Cell Biol 21:1484-1490
-
(2001)
Mol Cell Biol
, vol.21
, pp. 1484-1490
-
-
Davis, R.J.1
Shen, W.2
Sandler, Y.I.3
Amoui, M.4
Purcell, P.5
Maas, R.6
Ou, C.N.7
Vogel, H.8
Beaudet, A.L.9
Mardon, G.10
-
56
-
-
0034938449
-
PAX6 haploinsufficiency causes cerebral malformations and olfactory dysfunction in humans
-
Sisodiya S et al. (2001) PAX6 haploinsufficiency causes cerebral malformations and olfactory dysfunction in humans. Nat Genet 28:214-216
-
(2001)
Nat Genet
, vol.28
, pp. 214-216
-
-
Sisodiya, S.1
|