-
1
-
-
0036153367
-
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
-
Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, et al. (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 39: 16-22.
-
(2002)
J Med Genet
, vol.39
, pp. 16-22
-
-
Morrison, D.1
FitzPatrick, D.2
Hanson, I.3
Williamson, K.4
van Heyningen, V.5
-
2
-
-
0344953586
-
Mutations in SOX2 cause anophthalmia
-
Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, et al. (2003) Mutations in SOX2 cause anophthalmia. Nat Genet 33: 461-463.
-
(2003)
Nat Genet
, vol.33
, pp. 461-463
-
-
Fantes, J.1
Ragge, N.K.2
Lynch, S.A.3
McGill, N.I.4
Collin, J.R.5
-
3
-
-
20944448656
-
SOX2 anophthalmia syndrome
-
discussion 8
-
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, et al. (2005) SOX2 anophthalmia syndrome. Am J Med Genet A 135: 1-7 discussion 8.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 1-7
-
-
Ragge, N.K.1
Lorenz, B.2
Schneider, A.3
Bushby, K.4
de Sanctis, L.5
-
4
-
-
33646162880
-
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
-
Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, et al. (2006) Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 15: 1413-1422.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1413-1422
-
-
Williamson, K.A.1
Hever, A.M.2
Rainger, J.3
Rogers, R.C.4
Magee, A.5
-
5
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, et al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76: 1008-1022.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
-
6
-
-
73449095474
-
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
-
Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, et al. (2009) A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis 15: 2442-2447.
-
(2009)
Mol Vis
, vol.15
, pp. 2442-2447
-
-
Henderson, R.H.1
Williamson, K.A.2
Kennedy, J.S.3
Webster, A.R.4
Holder, G.E.5
-
7
-
-
33847215172
-
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
-
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, et al. (2007) Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 80: 550-560.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 550-560
-
-
Pasutto, F.1
Sticht, H.2
Hammersen, G.3
Gillessen-Kaesbach, G.4
Fitzpatrick, D.R.5
-
8
-
-
40749090053
-
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
-
Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, et al. (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82: 304-319.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 304-319
-
-
Bakrania, P.1
Efthymiou, M.2
Klein, J.C.3
Salt, A.4
Bunyan, D.J.5
-
9
-
-
79960949105
-
Autosomally-recessive anophthalmia with malformations of the hands and feet
-
In: P. J. Waardenburg AFaDK, editors
-
Waardenburg PJ, (1961) Autosomally-recessive anophthalmia with malformations of the hands and feet. In: P. J. Waardenburg AFaDK, editors. Vol I. Assen, The Netherlands: Royal Van Gorcum.
-
(1961)
Vol I. Assen, The Netherlands: Royal Van Gorcum
-
-
Waardenburg, P.J.1
-
10
-
-
78650887493
-
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome
-
Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, et al. (2011) Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet 88: 92-98.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 92-98
-
-
Abouzeid, H.1
Boisset, G.2
Favez, T.3
Youssef, M.4
Marzouk, I.5
-
11
-
-
0028096493
-
Microphthalmia and distal limb abnormalities in a child of consanguineous parents
-
LI AG, Sabarinathan DK A K, (1994) Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol 3: 258-262.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 258-262
-
-
Li, A.G.1
Sabarinathan, D.K.A.K.2
-
12
-
-
0036622647
-
Ophthalmo-acromelic syndrome in a Turkish infant: case report
-
Caksen H, Odabas D, Oner AF, Abuhandan M, Calebi V, (2002) Ophthalmo-acromelic syndrome in a Turkish infant: case report. East Afr Med J 79: 339-340.
-
(2002)
East Afr Med J
, vol.79
, pp. 339-340
-
-
Caksen, H.1
Odabas, D.2
Oner, A.F.3
Abuhandan, M.4
Calebi, V.5
-
13
-
-
0034677190
-
Waardenburg anophthalmia syndrome: report and review
-
Cogulu O, Ozkinay F, Gunduz C, Sapmaz G, Ozkinay C, (2000) Waardenburg anophthalmia syndrome: report and review. Am J Med Genet 90: 173-174.
-
(2000)
Am J Med Genet
, vol.90
, pp. 173-174
-
-
Cogulu, O.1
Ozkinay, F.2
Gunduz, C.3
Sapmaz, G.4
Ozkinay, C.5
-
14
-
-
36248955412
-
Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
-
Galasso C, Bombardieri R, Cerminara C, Stranci G, Curatolo P, (2007) Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role? J Child Neurol 22: 1252-1255.
-
(2007)
J Child Neurol
, vol.22
, pp. 1252-1255
-
-
Galasso, C.1
Bombardieri, R.2
Cerminara, C.3
Stranci, G.4
Curatolo, P.5
-
15
-
-
77949351684
-
Ophthalmoacromelic syndrome: two further cases expanding the phenotype
-
Gambhir PS, Gambhir SP, Bankar SM, (2010) Ophthalmoacromelic syndrome: two further cases expanding the phenotype. Clin Dysmorphol 19: 91-94.
-
(2010)
Clin Dysmorphol
, vol.19
, pp. 91-94
-
-
Gambhir, P.S.1
Gambhir, S.P.2
Bankar, S.M.3
-
16
-
-
33847248856
-
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review
-
Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, et al. (2006) Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns 17: 449-455.
-
(2006)
Genet Couns
, vol.17
, pp. 449-455
-
-
Garavelli, L.1
Pedori, S.2
Dal Zotto, R.3
Franchi, F.4
Marinelli, M.5
-
17
-
-
61749089645
-
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23
-
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, et al. (2009) A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A 149A: 336-342.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 336-342
-
-
Hamanoue, H.1
Megarbane, A.2
Tohma, T.3
Nishimura, A.4
Mizuguchi, T.5
-
18
-
-
0036107258
-
A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg
-
Kara F, Yesildaglar N, Tuncer RA, Semerci N, Onat N, et al. (2002) A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg. Prenat Diagn 22: 395-397.
-
(2002)
Prenat Diagn
, vol.22
, pp. 395-397
-
-
Kara, F.1
Yesildaglar, N.2
Tuncer, R.A.3
Semerci, N.4
Onat, N.5
-
19
-
-
51449084068
-
Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?
-
Khan A, Zafar SN, (2008) Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome? Clin Dysmorphol 17: 187-188.
-
(2008)
Clin Dysmorphol
, vol.17
, pp. 187-188
-
-
Khan, A.1
Zafar, S.N.2
-
20
-
-
0024268477
-
Ophthalmo-acromelic syndrome
-
Le Merrer M, Nessmann C, Briard ML, Maroteaux P, (1988) Ophthalmo-acromelic syndrome. Ann Genet 31: 226-229.
-
(1988)
Ann Genet
, vol.31
, pp. 226-229
-
-
Le Merrer, M.1
Nessmann, C.2
Briard, M.L.3
Maroteaux, P.4
-
21
-
-
0031783761
-
Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly
-
Megarbane A, Souraty N, Tamraz J, (1998) Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. Genet Couns 9: 195-199.
-
(1998)
Genet Couns
, vol.9
, pp. 195-199
-
-
Megarbane, A.1
Souraty, N.2
Tamraz, J.3
-
22
-
-
84907113096
-
A syndrome with true anophthalmia, hand-foot defects and mental retardation
-
Pallotta R, Dallapiccola B, (1984) A syndrome with true anophthalmia, hand-foot defects and mental retardation. Ophthalmic Paediatr Genet 4: 19-23.
-
(1984)
Ophthalmic Paediatr Genet
, vol.4
, pp. 19-23
-
-
Pallotta, R.1
Dallapiccola, B.2
-
23
-
-
0029340242
-
Ophthalmo acromelic syndrome
-
Quarrell OW, (1995) Ophthalmo acromelic syndrome. Clin Dysmorphol 4: 272-273.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 272-273
-
-
Quarrell, O.W.1
-
24
-
-
0020558018
-
Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities-type Waardenburg
-
Richieri-Costa A, Gollop TR, Otto PG, (1983) Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities-type Waardenburg. Am J Med Genet 14: 607-615.
-
(1983)
Am J Med Genet
, vol.14
, pp. 607-615
-
-
Richieri-Costa, A.1
Gollop, T.R.2
Otto, P.G.3
-
25
-
-
0029155458
-
Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes
-
Sayli BS, Akarsu AN, Altan S, (1995) Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. Am J Med Genet 58: 18-20.
-
(1995)
Am J Med Genet
, vol.58
, pp. 18-20
-
-
Sayli, B.S.1
Akarsu, A.N.2
Altan, S.3
-
26
-
-
0029965978
-
Anophthalmia-Waardenburg syndrome: a report of three cases
-
Suyugul Z, Seven M, Hacihanefioglu S, Kartal A, Suyugul N, et al. (1996) Anophthalmia-Waardenburg syndrome: a report of three cases. Am J Med Genet 62: 391-397.
-
(1996)
Am J Med Genet
, vol.62
, pp. 391-397
-
-
Suyugul, Z.1
Seven, M.2
Hacihanefioglu, S.3
Kartal, A.4
Suyugul, N.5
-
27
-
-
34848853287
-
Ophthalmo-acromelic syndrome: report of a case with vertebral anomalies
-
Teiber ML, Garrido JA, Barreiro CZ, (2007) Ophthalmo-acromelic syndrome: report of a case with vertebral anomalies. Am J Med Genet A 143A: 2460-2462.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2460-2462
-
-
Teiber, M.L.1
Garrido, J.A.2
Barreiro, C.Z.3
-
28
-
-
0034677214
-
Ophthalmo-acromelic syndrome: report and review
-
Tekin M, Tutar E, Arsan S, Atay G, Bodurtha J, (2000) Ophthalmo-acromelic syndrome: report and review. Am J Med Genet 90: 150-154.
-
(2000)
Am J Med Genet
, vol.90
, pp. 150-154
-
-
Tekin, M.1
Tutar, E.2
Arsan, S.3
Atay, G.4
Bodurtha, J.5
-
29
-
-
84907138037
-
Waardenburg's recessive anophthalmia syndrome
-
Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM, (1984) Waardenburg's recessive anophthalmia syndrome. Ophthalmic Paediatr Genet 4: 13-18.
-
(1984)
Ophthalmic Paediatr Genet
, vol.4
, pp. 13-18
-
-
Traboulsi, E.I.1
Nasr, A.M.2
Fahd, S.D.3
Jabbour, N.M.4
Der Kaloustian, V.M.5
-
30
-
-
35348923714
-
The bone morphogenetic protein 1/Tolloid-like metalloproteinases
-
Hopkins DR, Keles S, Greenspan DS, (2007) The bone morphogenetic protein 1/Tolloid-like metalloproteinases. Matrix Biol 26: 508-523.
-
(2007)
Matrix Biol
, vol.26
, pp. 508-523
-
-
Hopkins, D.R.1
Keles, S.2
Greenspan, D.S.3
-
31
-
-
70649083092
-
Recent advances in BMP receptor signaling
-
Sieber C, Kopf J, Hiepen C, Knaus P, (2009) Recent advances in BMP receptor signaling. Cytokine Growth Factor Rev 20: 343-355.
-
(2009)
Cytokine Growth Factor Rev
, vol.20
, pp. 343-355
-
-
Sieber, C.1
Kopf, J.2
Hiepen, C.3
Knaus, P.4
-
32
-
-
75649127963
-
Bone morphogenetic protein receptors and signal transduction
-
Miyazono K, Kamiya Y, Morikawa M, (2010) Bone morphogenetic protein receptors and signal transduction. J Biochem 147: 35-51.
-
(2010)
J Biochem
, vol.147
, pp. 35-51
-
-
Miyazono, K.1
Kamiya, Y.2
Morikawa, M.3
-
33
-
-
1842425809
-
P38MAPK acts in the BMP7-dependent stimulatory pathway during epithelial cell morphogenesis and is regulated by Smad1
-
Hu MC, Wasserman D, Hartwig S, Rosenblum ND, (2004) p38MAPK acts in the BMP7-dependent stimulatory pathway during epithelial cell morphogenesis and is regulated by Smad1. J Biol Chem 279: 12051-12059.
-
(2004)
J Biol Chem
, vol.279
, pp. 12051-12059
-
-
Hu, M.C.1
Wasserman, D.2
Hartwig, S.3
Rosenblum, N.D.4
-
34
-
-
33645785590
-
Spemann's organizer and self-regulation in amphibian embryos
-
De Robertis EM, (2006) Spemann's organizer and self-regulation in amphibian embryos. Nat Rev Mol Cell Biol 7: 296-302.
-
(2006)
Nat Rev Mol Cell Biol
, vol.7
, pp. 296-302
-
-
De Robertis, E.M.1
-
35
-
-
29144455975
-
Twisted gastrulation is required for forebrain specification and cooperates with Chordin to inhibit BMP signaling during X. tropicalis gastrulation
-
Wills A, Harland RM, Khokha MK, (2006) Twisted gastrulation is required for forebrain specification and cooperates with Chordin to inhibit BMP signaling during X. tropicalis gastrulation. Dev Biol 289: 166-178.
-
(2006)
Dev Biol
, vol.289
, pp. 166-178
-
-
Wills, A.1
Harland, R.M.2
Khokha, M.K.3
-
36
-
-
48549097726
-
Crossveinless-2 Is a BMP feedback inhibitor that binds Chordin/BMP to regulate Xenopus embryonic patterning
-
Ambrosio AL, Taelman VF, Lee HX, Metzinger CA, Coffinier C, et al. (2008) Crossveinless-2 Is a BMP feedback inhibitor that binds Chordin/BMP to regulate Xenopus embryonic patterning. Dev Cell 15: 248-260.
-
(2008)
Dev Cell
, vol.15
, pp. 248-260
-
-
Ambrosio, A.L.1
Taelman, V.F.2
Lee, H.X.3
Metzinger, C.A.4
Coffinier, C.5
-
37
-
-
0036895356
-
Xolloid-related: a novel BMP1/Tolloid-related metalloprotease is expressed during early Xenopus development
-
Dale L, Evans W, Goodman SA, (2002) Xolloid-related: a novel BMP1/Tolloid-related metalloprotease is expressed during early Xenopus development. Mech Dev 119: 177-190.
-
(2002)
Mech Dev
, vol.119
, pp. 177-190
-
-
Dale, L.1
Evans, W.2
Goodman, S.A.3
-
38
-
-
71049139747
-
Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling
-
Yan X, Lin Z, Chen F, Zhao X, Chen H, et al. (2009) Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling. J Biol Chem 284: 30097-30104.
-
(2009)
J Biol Chem
, vol.284
, pp. 30097-30104
-
-
Yan, X.1
Lin, Z.2
Chen, F.3
Zhao, X.4
Chen, H.5
-
39
-
-
0037064131
-
Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes
-
Vannahme C, Smyth N, Miosge N, Gosling S, Frie C, et al. (2002) Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes. J Biol Chem 277: 37977-37986.
-
(2002)
J Biol Chem
, vol.277
, pp. 37977-37986
-
-
Vannahme, C.1
Smyth, N.2
Miosge, N.3
Gosling, S.4
Frie, C.5
-
40
-
-
0043069845
-
Characterization of SMOC-2, a modular extracellular calcium-binding protein
-
Vannahme C, Gosling S, Paulsson M, Maurer P, Hartmann U, (2003) Characterization of SMOC-2, a modular extracellular calcium-binding protein. Biochem J 373: 805-814.
-
(2003)
Biochem J
, vol.373
, pp. 805-814
-
-
Vannahme, C.1
Gosling, S.2
Paulsson, M.3
Maurer, P.4
Hartmann, U.5
-
41
-
-
33644889933
-
Diversity and evolution of the thyroglobulin type-1 domain superfamily
-
Novinec M, Kordis D, Turk V, Lenarcic B, (2006) Diversity and evolution of the thyroglobulin type-1 domain superfamily. Mol Biol Evol 23: 744-755.
-
(2006)
Mol Biol Evol
, vol.23
, pp. 744-755
-
-
Novinec, M.1
Kordis, D.2
Turk, V.3
Lenarcic, B.4
-
42
-
-
67650514335
-
Xenopus SMOC-1 Inhibits bone morphogenetic protein signaling downstream of receptor binding and is essential for postgastrulation development in Xenopus
-
Thomas JT, Canelos P, Luyten FP, Moos MJ, (2009) Xenopus SMOC-1 Inhibits bone morphogenetic protein signaling downstream of receptor binding and is essential for postgastrulation development in Xenopus. J Biol Chem 284: 18994-19005.
-
(2009)
J Biol Chem
, vol.284
, pp. 18994-19005
-
-
Thomas, J.T.1
Canelos, P.2
Luyten, F.P.3
Moos, M.J.4
-
43
-
-
41449105438
-
EUCOMM-the European conditional mouse mutagenesis program
-
Friedel RH, Seisenberger C, Kaloff C, Wurst W, (2007) EUCOMM-the European conditional mouse mutagenesis program. Brief Funct Genomic Proteomic 6: 180-185.
-
(2007)
Brief Funct Genomic Proteomic
, vol.6
, pp. 180-185
-
-
Friedel, R.H.1
Seisenberger, C.2
Kaloff, C.3
Wurst, W.4
-
44
-
-
0034680757
-
Thyroglobulin type-I-like domains in invariant chain fusion proteins mediate resistance to cathepsin L digestion
-
Hitzel C, Kanzler H, Konig A, Kummer MP, Brix K, et al. (2000) Thyroglobulin type-I-like domains in invariant chain fusion proteins mediate resistance to cathepsin L digestion. FEBS Lett 485: 67-70.
-
(2000)
FEBS Lett
, vol.485
, pp. 67-70
-
-
Hitzel, C.1
Kanzler, H.2
Konig, A.3
Kummer, M.P.4
Brix, K.5
-
45
-
-
0036869527
-
Individual recombinant thyroglobulin type-1 domains are substrates for lysosomal cysteine proteinases
-
Pungercic G, Dolenc I, Dolinar M, Bevec T, Jenko S, et al. (2002) Individual recombinant thyroglobulin type-1 domains are substrates for lysosomal cysteine proteinases. Biol Chem 383: 1809-1812.
-
(2002)
Biol Chem
, vol.383
, pp. 1809-1812
-
-
Pungercic, G.1
Dolenc, I.2
Dolinar, M.3
Bevec, T.4
Jenko, S.5
-
46
-
-
34547609892
-
Cathespin H is an Fgf10 target involved in Bmp4 degradation during lung branching morphogenesis
-
Lu J, Qian J, Keppler D, Cardoso WV, (2007) Cathespin H is an Fgf10 target involved in Bmp4 degradation during lung branching morphogenesis. J Biol Chem 282: 22176-22184.
-
(2007)
J Biol Chem
, vol.282
, pp. 22176-22184
-
-
Lu, J.1
Qian, J.2
Keppler, D.3
Cardoso, W.V.4
-
47
-
-
33846252836
-
Inhibition of Sonic hedgehog signaling leads to posterior digit loss in Ambystoma mexicanum: parallels to natural digit reduction in urodeles
-
Stopper GF, Wagner GP, (2007) Inhibition of Sonic hedgehog signaling leads to posterior digit loss in Ambystoma mexicanum: parallels to natural digit reduction in urodeles. Dev Dyn 236: 321-331.
-
(2007)
Dev Dyn
, vol.236
, pp. 321-331
-
-
Stopper, G.F.1
Wagner, G.P.2
-
48
-
-
42249088278
-
Integration of growth and specification in chick wing digit-patterning
-
Towers M, Mahood R, Yin Y, Tickle C, (2008) Integration of growth and specification in chick wing digit-patterning. Nature 452: 882-886.
-
(2008)
Nature
, vol.452
, pp. 882-886
-
-
Towers, M.1
Mahood, R.2
Yin, Y.3
Tickle, C.4
-
49
-
-
0031860389
-
Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice
-
Katagiri T, Boorla S, Frendo JL, Hogan BL, Karsenty G, (1998) Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Dev Genet 22: 340-348.
-
(1998)
Dev Genet
, vol.22
, pp. 340-348
-
-
Katagiri, T.1
Boorla, S.2
Frendo, J.L.3
Hogan, B.L.4
Karsenty, G.5
-
50
-
-
34547469975
-
Bone morphogenetic protein signaling in limb outgrowth and patterning
-
Robert B, (2007) Bone morphogenetic protein signaling in limb outgrowth and patterning. Dev Growth Differ 49: 455-468.
-
(2007)
Dev Growth Differ
, vol.49
, pp. 455-468
-
-
Robert, B.1
-
51
-
-
33244485265
-
The interpretation of morphogen gradients
-
Ashe HL, Briscoe J, (2006) The interpretation of morphogen gradients. Development 133: 385-394.
-
(2006)
Development
, vol.133
, pp. 385-394
-
-
Ashe, H.L.1
Briscoe, J.2
-
53
-
-
34548049239
-
The Decapentaplegic morphogen gradient: from pattern formation to growth regulation
-
Affolter M, Basler K, (2007) The Decapentaplegic morphogen gradient: from pattern formation to growth regulation. Nat Rev Genet 8: 663-674.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 663-674
-
-
Affolter, M.1
Basler, K.2
-
54
-
-
77953095048
-
Control of Dpp morphogen signalling by a secreted feedback regulator
-
Vuilleumier R, Springhorn A, Patterson L, Koidl S, Hammerschmidt M, et al. (2010) Control of Dpp morphogen signalling by a secreted feedback regulator. Nat Cell Biol 12: 611-617.
-
(2010)
Nat Cell Biol
, vol.12
, pp. 611-617
-
-
Vuilleumier, R.1
Springhorn, A.2
Patterson, L.3
Koidl, S.4
Hammerschmidt, M.5
-
55
-
-
27544512594
-
Regulation of cell proliferation by a morphogen gradient
-
Rogulja D, Irvine KD, (2005) Regulation of cell proliferation by a morphogen gradient. Cell 123: 449-461.
-
(2005)
Cell
, vol.123
, pp. 449-461
-
-
Rogulja, D.1
Irvine, K.D.2
-
56
-
-
60549103019
-
In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth
-
Maatouk DM, Choi KS, Bouldin CM, Harfe BD, (2009) In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth. Dev Biol 327: 516-523.
-
(2009)
Dev Biol
, vol.327
, pp. 516-523
-
-
Maatouk, D.M.1
Choi, K.S.2
Bouldin, C.M.3
Harfe, B.D.4
-
57
-
-
34347329271
-
BMP signals control limb bud interdigital programmed cell death by regulating FGF signaling
-
Pajni-Underwood S, Wilson CP, Elder C, Mishina Y, Lewandoski M, (2007) BMP signals control limb bud interdigital programmed cell death by regulating FGF signaling. Development 134: 2359-2368.
-
(2007)
Development
, vol.134
, pp. 2359-2368
-
-
Pajni-Underwood, S.1
Wilson, C.P.2
Elder, C.3
Mishina, Y.4
Lewandoski, M.5
-
58
-
-
18744366421
-
Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
-
Chang B, Smith RS, Peters M, Savinova OV, Hawes NL, et al. (2001) Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. BMC Genet 2: 18.
-
(2001)
BMC Genet
, vol.2
, pp. 18
-
-
Chang, B.1
Smith, R.S.2
Peters, M.3
Savinova, O.V.4
Hawes, N.L.5
-
59
-
-
0032430772
-
BMP4 is essential for lens induction in the mouse embryo
-
Furuta Y, Hogan BL, (1998) BMP4 is essential for lens induction in the mouse embryo. Genes Dev 12: 3764-3775.
-
(1998)
Genes Dev
, vol.12
, pp. 3764-3775
-
-
Furuta, Y.1
Hogan, B.L.2
-
60
-
-
61849147400
-
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
-
Suzuki S, Marazita ML, Cooper ME, Miwa N, Hing A, et al. (2009) Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 84: 406-411.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 406-411
-
-
Suzuki, S.1
Marazita, M.L.2
Cooper, M.E.3
Miwa, N.4
Hing, A.5
-
61
-
-
78650922818
-
SMOC1 is essential for ocular and limb development in humans and mice
-
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, et al. (2011) SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 88: 30-41.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 30-41
-
-
Okada, I.1
Hamanoue, H.2
Terada, K.3
Tohma, T.4
Megarbane, A.5
-
62
-
-
77957885452
-
Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations
-
doi:10.1371/journal.pone.0012375
-
Harewood L, Liu M, Keeling J, Howatson A, Whiteford M, et al. (2010) Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. PLoS ONE 5: e12375 doi:10.1371/journal.pone.0012375.
-
(2010)
PLoS ONE
, vol.5
-
-
Harewood, L.1
Liu, M.2
Keeling, J.3
Howatson, A.4
Whiteford, M.5
|