-
1
-
-
0032872336
-
Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5
-
Acampora, D., Merlo, G.R., Paleari, L., Zerega, B., Postiglione, M.P., Mantero, S., Bober, E., Barbieri, O., Simeone, A. and Levi, G. (1999) Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5. Development, 126, 3795-3809.
-
(1999)
Development
, vol.126
, pp. 3795-3809
-
-
Acampora, D.1
Merlo, G.R.2
Paleari, L.3
Zerega, B.4
Postiglione, M.P.5
Mantero, S.6
Bober, E.7
Barbieri, O.8
Simeone, A.9
Levi, G.10
-
2
-
-
53349129583
-
Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programs
-
Jeong, J., Li, X., McEvilly, R.J., Rosenfeld, M.G., Lufkin, T. and Rubenstein, J.L. (2008) Dlx genes pattern mammalian jaw primordium by regulating both lower jaw-specific and upper jaw-specific genetic programs. Development, 135, 2905-2916.
-
(2008)
Development
, vol.135
, pp. 2905-2916
-
-
Jeong, J.1
Li, X.2
McEvilly, R.J.3
Rosenfeld, M.G.4
Lufkin, T.5
Rubenstein, J.L.6
-
3
-
-
37249038477
-
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4
-
Suzuki, K., Haraguchi, R., Ogata, T., Barbieri, O., Alegria, O., Vieux-Rochas, M., Nakagata, N., Ito, M., Mills, A.A., Kurita, T. et al. (2008) Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. Eur. J. Hum. Genet., 16, 36-44.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 36-44
-
-
Suzuki, K.1
Haraguchi, R.2
Ogata, T.3
Barbieri, O.4
Alegria, O.5
Vieux-Rochas, M.6
Nakagata, N.7
Ito, M.8
Mills, A.A.9
Kurita, T.10
-
4
-
-
0036558218
-
The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development
-
Robledo, R.F., Rajan, L., Li, X. and Lufkin, T. (2002) The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev., 16, 1089-1101.
-
(2002)
Genes Dev
, vol.16
, pp. 1089-1101
-
-
Robledo, R.F.1
Rajan, L.2
Li, X.3
Lufkin, T.4
-
5
-
-
33745606755
-
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients
-
Elliott, A.M. and Evans, J.A. (2006) Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. Am. J. Med. Genet. A, 140, 1419-1427.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 1419-1427
-
-
Elliott, A.M.1
Evans, J.A.2
-
6
-
-
84856010344
-
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation
-
Shamseldin, H.E., Faden, M.A., Alashram, W. and Alkuraya, F.S. (2012) Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J. Med. Genet., 49, 16-20.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 16-20
-
-
Shamseldin, H.E.1
Faden, M.A.2
Alashram, W.3
Alkuraya, F.S.4
-
7
-
-
0342635450
-
A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain
-
Zerucha, T., Stuhmer, T., Hatch, G., Park, B.K., Long, Q., Yu, G., Gambarotta, A., Schultz, J.R., Rubenstein, J.L. and Ekker, M. (2000) A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain. J. Neurosci., 20, 709-721.
-
(2000)
J. Neurosci.
, vol.20
, pp. 709-721
-
-
Zerucha, T.1
Stuhmer, T.2
Hatch, G.3
Park, B.K.4
Long, Q.5
Yu, G.6
Gambarotta, A.7
Schultz, J.R.8
Rubenstein, J.L.9
Ekker, M.10
-
8
-
-
77449106150
-
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21, 3q35)
-
Brown, K.K., Reiss, J.A., Crow, K., Ferguson, H.L., Kelly, C., Fritzsch, B. and Morton, C.C. (2010) Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). Hum. Mutat., 127, 19-31.
-
(2010)
Hum. Mutat.
, vol.127
, pp. 19-31
-
-
Brown, K.K.1
Reiss, J.A.2
Crow, K.3
Ferguson, H.L.4
Kelly, C.5
Fritzsch, B.6
Morton, C.C.7
-
9
-
-
34047272129
-
The transcription factor MEF2C is required for craniofacial development
-
Verzi, M.P., Agarwal, P., Brown, C., McCulley, D.J., Schwarz, J.J. and Black, B.L. (2007) The transcription factor MEF2C is required for craniofacial development. Dev. Cell, 12, 645-652.
-
(2007)
Dev. Cell
, vol.12
, pp. 645-652
-
-
Verzi, M.P.1
Agarwal, P.2
Brown, C.3
McCulley, D.J.4
Schwarz, J.J.5
Black, B.L.6
-
10
-
-
77957371805
-
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus
-
Kouwenhoven, E.N., van Heeringen, S.J., Tena, J.J., Oti, M., Dutilh, B.E., Alonso, M.E., de la Calle-Mustienes, E., Smeenk, L., Rinne, T., Parsaulian, L. et al. (2010) Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet., 6, e1001065.
-
(2010)
PLoS Genet
, vol.6
-
-
Kouwenhoven, E.N.1
van Heeringen, S.J.2
Tena, J.J.3
Oti, M.4
Dutilh, B.E.5
Alonso, M.E.6
de la Calle-Mustienes, E.7
Smeenk, L.8
Rinne, T.9
Parsaulian, L.10
-
11
-
-
33744804277
-
The Evf-2 noncoding RNA is transcribed from the Dlx-5/6 ultraconserved region and functions as a Dlx-2 transcriptional coactivator
-
Feng, J., Bi, C., Clark, B.S., Mady, R., Shah, P. and Kohtz, J.D. (2006) The Evf-2 noncoding RNA is transcribed from the Dlx-5/6 ultraconserved region and functions as a Dlx-2 transcriptional coactivator. Genes Dev., 20, 1470-1484.
-
(2006)
Genes Dev
, vol.20
, pp. 1470-1484
-
-
Feng, J.1
Bi, C.2
Clark, B.S.3
Mady, R.4
Shah, P.5
Kohtz, J.D.6
-
12
-
-
77956601621
-
An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain
-
Poitras, L., Yu, M., Lesage-Pelletier, C., Macdonald, R.B., Gagne, J.P., Hatch, G., Kelly, I., Hamilton, S.P., Rubenstein, J.L., Poirier, G.G. et al. (2010) An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain. Development, 137, 3089-3097.
-
(2010)
Development
, vol.137
, pp. 3089-3097
-
-
Poitras, L.1
Yu, M.2
Lesage-Pelletier, C.3
Macdonald, R.B.4
Gagne, J.P.5
Hatch, G.6
Kelly, I.7
Hamilton, S.P.8
Rubenstein, J.L.9
Poirier, G.G.10
-
13
-
-
79956306348
-
Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis
-
Barron, F., Woods, C., Kuhn, K., Bishop, J., Howard, M.J. and Clouthier, D.E. (2011) Downregulation of Dlx5 and Dlx6 expression by Hand2 is essential for initiation of tongue morphogenesis. Development, 138, 2249-2259.
-
(2011)
Development
, vol.138
, pp. 2249-2259
-
-
Barron, F.1
Woods, C.2
Kuhn, K.3
Bishop, J.4
Howard, M.J.5
Clouthier, D.E.6
-
14
-
-
43049181659
-
Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
-
Lo Iacono, N., Mantero, S., Chiarelli, A., Garcia, E., Mills, A.A., Morasso, M.I., Costanzo, A., Levi, G., Guerrini, L. and Merlo, G.R. (2008) Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects. Development, 135, 1377-1388.
-
(2008)
Development
, vol.135
, pp. 1377-1388
-
-
Lo Iacono, N.1
Mantero, S.2
Chiarelli, A.3
Garcia, E.4
Mills, A.A.5
Morasso, M.I.6
Costanzo, A.7
Levi, G.8
Guerrini, L.9
Merlo, G.R.10
-
15
-
-
84861456609
-
Coding exons function as tissue-specific enhancers of nearby genes
-
Birnbaum, R.Y., Clowney, E.J., Agamy, O., Kim, M.J., Zhao, J., Yamanaka, T., Pappalardo, Z., Clarke, S.L., Wenger, A.M., Nguyen, L. et al. (2012) Coding exons function as tissue-specific enhancers of nearby genes. Genome Res., 22, 1059-1068.
-
(2012)
Genome Res
, vol.22
, pp. 1059-1068
-
-
Birnbaum, R.Y.1
Clowney, E.J.2
Agamy, O.3
Kim, M.J.4
Zhao, J.5
Yamanaka, T.6
Pappalardo, Z.7
Clarke, S.L.8
Wenger, A.M.9
Nguyen, L.10
-
16
-
-
20144362581
-
An interstitial deletion of chromosome 7 at band q21: a case report and review
-
Courtens, W., Vermeulen, S., Wuyts, W., Messiaen, L., Wauters, J., Nuytinck, L., Peeters, N., Storm, K., Speleman, F. and Nothen, M.M. (2005) An interstitial deletion of chromosome 7 at band q21: a case report and review. Am. J. Med. Genet. A, 134A, 12-23.
-
(2005)
Am. J. Med. Genet. A
, vol.134 A
, pp. 12-23
-
-
Courtens, W.1
Vermeulen, S.2
Wuyts, W.3
Messiaen, L.4
Wauters, J.5
Nuytinck, L.6
Peeters, N.7
Storm, K.8
Speleman, F.9
Nothen, M.M.10
-
17
-
-
0041822179
-
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21
-
DeBerardinis, R.J., Conforto, D., Russell, K., Kaplan, J., Kollros, P.R., Zackai, E.H. and Emanuel, B.S. (2003) Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. Am. J. Med. Genet. A, 121A, 31-36.
-
(2003)
Am. J. Med. Genet. A
, vol.121 A
, pp. 31-36
-
-
DeBerardinis, R.J.1
Conforto, D.2
Russell, K.3
Kaplan, J.4
Kollros, P.R.5
Zackai, E.H.6
Emanuel, B.S.7
-
18
-
-
34848872531
-
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
-
Asmus, F., Hjermind, L.E., Dupont, E., Wagenstaller, J., Haberlandt, E., Munz, M., Strom, T.M. and Gasser, T. (2007) Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain, 130, 2736-2745.
-
(2007)
Brain
, vol.130
, pp. 2736-2745
-
-
Asmus, F.1
Hjermind, L.E.2
Dupont, E.3
Wagenstaller, J.4
Haberlandt, E.5
Munz, M.6
Strom, T.M.7
Gasser, T.8
-
19
-
-
0028956673
-
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21, 2-q22. 1
-
Marinoni, J.C., Stevenson, R.E., Evans, J.P., Geshuri, D., Phelan, M.C. and Schwartz, C.E. (1995) Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin. Genet., 47, 90-95.
-
(1995)
Clin. Genet.
, vol.47
, pp. 90-95
-
-
Marinoni, J.C.1
Stevenson, R.E.2
Evans, J.P.3
Geshuri, D.4
Phelan, M.C.5
Schwartz, C.E.6
-
20
-
-
0034979428
-
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21, 1-q21. 3
-
Haberlandt, E., Loffler, J., Hirst-Stadlmann, A., Stockl, B., Judmaier, W., Fischer, H., Heinz-Erian, P., Muller, T., Utermann, G., Smith, R.J. et al. (2001) Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. J. Med. Genet., 38, 405-409.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 405-409
-
-
Haberlandt, E.1
Loffler, J.2
Hirst-Stadlmann, A.3
Stockl, B.4
Judmaier, W.5
Fischer, H.6
Heinz-Erian, P.7
Muller, T.8
Utermann, G.9
Smith, R.J.10
-
21
-
-
3042764746
-
Refinement of the deletion in 7q21, 3 associated with split hand/foot malformation type 1 and Mondini dysplasia
-
Wieland, I., Muschke, P., Jakubiczka, S., Volleth, M., Freigang, B. and Wieacker, P.F. (2004) Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. J. Med. Genet., 41, e54.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Wieland, I.1
Muschke, P.2
Jakubiczka, S.3
Volleth, M.4
Freigang, B.5
Wieacker, P.F.6
-
22
-
-
84876816454
-
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21, 3-q22. 1
-
Scherer, S.W., Poorkaj, P., Allen, T., Kim, J., Geshuri, D., Nunes, M., Soder, S., Stephens, K., Pagon, R.A., Patton, M.A. et al. (1994) Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am. J. Hum. Genet., 55, 12-20.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 12-20
-
-
Scherer, S.W.1
Poorkaj, P.2
Allen, T.3
Kim, J.4
Geshuri, D.5
Nunes, M.6
Soder, S.7
Stephens, K.8
Pagon, R.A.9
Patton, M.A.10
-
23
-
-
70350389374
-
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
-
van Silfhout, A.T., van den Akker, P.C., Dijkhuizen, T., Verheij, J.B., Olderode-Berends, M.J., Kok, K., Sikkema-Raddatz, B. and van Ravenswaaij-Arts, C.M. (2009) Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. Eur. J. Hum. Genet., 17, 1432-1438.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1432-1438
-
-
van Silfhout, A.T.1
van den Akker, P.C.2
Dijkhuizen, T.3
Verheij, J.B.4
Olderode-Berends, M.J.5
Kok, K.6
Sikkema-Raddatz, B.7
van Ravenswaaij-Arts, C.M.8
-
24
-
-
0029874494
-
Molecular definition of a narrow interval at 7q22, 1 associated with myelodysplasia
-
Johnson, E.J., Scherer, S.W., Osborne, L., Tsui, L.C., Oscier, D., Mould, S. and Cotter, F.E. (1996) Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood, 87, 3579-3586.
-
(1996)
Blood
, vol.87
, pp. 3579-3586
-
-
Johnson, E.J.1
Scherer, S.W.2
Osborne, L.3
Tsui, L.C.4
Oscier, D.5
Mould, S.6
Cotter, F.E.7
-
25
-
-
52649118148
-
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
-
Bonnet, C., Gregoire, M.J., Vibert, M., Raffo, E., Leheup, B. and Jonveaux, P. (2008) Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. J. Hum. Genet., 53, 876-885.
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 876-885
-
-
Bonnet, C.1
Gregoire, M.J.2
Vibert, M.3
Raffo, E.4
Leheup, B.5
Jonveaux, P.6
-
26
-
-
0035173853
-
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21
-
Tackels-Horne, D., Toburen, A., Sangiorgi, E., Gurrieri, F., de Mollerat, X., Fischetto, R., Causio, F., Clarkson, K., Stevenson, R.E. and Schwartz, C.E. (2001) Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. Clin. Genet., 59, 28-36.
-
(2001)
Clin. Genet.
, vol.59
, pp. 28-36
-
-
Tackels-Horne, D.1
Toburen, A.2
Sangiorgi, E.3
Gurrieri, F.4
de Mollerat, X.5
Fischetto, R.6
Causio, F.7
Clarkson, K.8
Stevenson, R.E.9
Schwartz, C.E.10
-
27
-
-
84861905783
-
Submicroscopic rearrangements involving the SHFM1 locus on chromosome 7q21-22 are associated with split-hand/foot malformation and sensorineural hearing loss
-
Everman, D., Morgan, C., Clarkson, K., Gurrieri, F., McAuliffe, F., Chitayat, D., Stevenson, R. and Schwartz, C. (2005) Submicroscopic rearrangements involving the SHFM1 locus on chromosome 7q21-22 are associated with split-hand/foot malformation and sensorineural hearing loss. Proc. Greenwood Genet. Center, 24, 137.
-
(2005)
Proc. Greenwood Genet. Center
, vol.24
, pp. 137
-
-
Everman, D.1
Morgan, C.2
Clarkson, K.3
Gurrieri, F.4
McAuliffe, F.5
Chitayat, D.6
Stevenson, R.7
Schwartz, C.8
-
28
-
-
84861875787
-
Chromosome rearrangements: an emerging theme in the causation of split-hand/foot malformation
-
Everman, D., Morgan, C., Stevenson, R. and Schwartz, C. (2006) Chromosome rearrangements: an emerging theme in the causation of split-hand/foot malformation. Proc. Greenwood Genet. Center, 25, 138.
-
(2006)
Proc. Greenwood Genet. Center
, vol.25
, pp. 138
-
-
Everman, D.1
Morgan, C.2
Stevenson, R.3
Schwartz, C.4
-
29
-
-
3242878193
-
ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes
-
Ovcharenko, I., Nobrega, M.A., Loots, G.G. and Stubbs, L. (2004) ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res., 32, W280-W286.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Ovcharenko, I.1
Nobrega, M.A.2
Loots, G.G.3
Stubbs, L.4
-
30
-
-
53049095341
-
Characterization of a distinct subpopulation of striatal projection neurons expressing the Dlx genes in the basal ganglia through the activity of the I56ii enhancer
-
Ghanem, N., Yu, M., Poitras, L., Rubenstein, J.L. and Ekker, M. (2008) Characterization of a distinct subpopulation of striatal projection neurons expressing the Dlx genes in the basal ganglia through the activity of the I56ii enhancer. Dev. Biol., 322, 415-424.
-
(2008)
Dev. Biol.
, vol.322
, pp. 415-424
-
-
Ghanem, N.1
Yu, M.2
Poitras, L.3
Rubenstein, J.L.4
Ekker, M.5
-
31
-
-
72649101692
-
A systematic approach to identify functional motifs within vertebrate developmental enhancers
-
Li, Q., Ritter, D., Yang, N., Dong, Z., Li, H., Chuang, J.H. and Guo, S. (2010) A systematic approach to identify functional motifs within vertebrate developmental enhancers. Dev. Biol., 337, 484-495.
-
(2010)
Dev. Biol.
, vol.337
, pp. 484-495
-
-
Li, Q.1
Ritter, D.2
Yang, N.3
Dong, Z.4
Li, H.5
Chuang, J.H.6
Guo, S.7
-
32
-
-
25444488956
-
Transposon tools and methods in zebrafish
-
Kawakami, K. (2005) Transposon tools and methods in zebrafish. Dev. Dyn., 234, 244-254.
-
(2005)
Dev. Dyn.
, vol.234
, pp. 244-254
-
-
Kawakami, K.1
-
33
-
-
0023747623
-
A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube
-
Kothary, R., Clapoff, S., Brown, A., Campbell, R., Peterson, A. and Rossant, J. (1988) A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature, 335, 435-437.
-
(1988)
Nature
, vol.335
, pp. 435-437
-
-
Kothary, R.1
Clapoff, S.2
Brown, A.3
Campbell, R.4
Peterson, A.5
Rossant, J.6
-
34
-
-
0032824045
-
Dlx5 regulates regional development of the branchial arches and sensory capsules
-
Depew, M.J., Liu, J.K., Long, J.E., Presley, R., Meneses, J.J., Pedersen, R.A. and Rubenstein, J.L. (1999) Dlx5 regulates regional development of the branchial arches and sensory capsules. Development, 126, 3831-3846.
-
(1999)
Development
, vol.126
, pp. 3831-3846
-
-
Depew, M.J.1
Liu, J.K.2
Long, J.E.3
Presley, R.4
Meneses, J.J.5
Pedersen, R.A.6
Rubenstein, J.L.7
-
35
-
-
19444387360
-
Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities
-
Lettice, L.A. and Hill, R.E. (2005) Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities. Curr. Opin Genet. Dev., 15, 294-300.
-
(2005)
Curr. Opin Genet. Dev.
, vol.15
, pp. 294-300
-
-
Lettice, L.A.1
Hill, R.E.2
-
36
-
-
79955019510
-
cis-regulatory mutations are a genetic cause of human limb malformations
-
VanderMeer, J.E. and Ahituv, N. (2011) cis-regulatory mutations are a genetic cause of human limb malformations. Dev. Dyn., 240, 920-930.
-
(2011)
Dev. Dyn.
, vol.240
, pp. 920-930
-
-
VanderMeer, J.E.1
Ahituv, N.2
-
37
-
-
84864022989
-
Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
-
Smemo, S., Campos, L.C., Moskowitz, I.P., Krieger, J.E., Pereira, A.C. and Nobrega, M.A. (2012) Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum. Mol. Genet., 21, 3255-3263.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3255-3263
-
-
Smemo, S.1
Campos, L.C.2
Moskowitz, I.P.3
Krieger, J.E.4
Pereira, A.C.5
Nobrega, M.A.6
-
39
-
-
51149097760
-
-
Hong, J.W., Hendrix, D.A. and Levine, M.S. (2008) Shadow enhancers as a source of evolutionary novelty. Science, 321, 1314.
-
(2008)
Science
, vol.321
, pp. 1314
-
-
Hong, J.W.1
Hendrix, D.A.2
Levine, M.S.3
-
40
-
-
60549097668
-
Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes
-
Navratilova, P., Fredman, D., Hawkins, T.A., Turner, K., Lenhard, B. and Becker, T.S. (2009) Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes. Dev. Biol., 327, 526-540.
-
(2009)
Dev. Biol.
, vol.327
, pp. 526-540
-
-
Navratilova, P.1
Fredman, D.2
Hawkins, T.A.3
Turner, K.4
Lenhard, B.5
Becker, T.S.6
-
41
-
-
39049147650
-
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b
-
McGaughey, D.M., Vinton, R.M., Huynh, J., Al-Saif, A., Beer, M.A. and McCallion, A.S. (2008) Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. Genome Res., 18, 252-260.
-
(2008)
Genome Res
, vol.18
, pp. 252-260
-
-
McGaughey, D.M.1
Vinton, R.M.2
Huynh, J.3
Al-Saif, A.4
Beer, M.A.5
McCallion, A.S.6
-
42
-
-
33645833857
-
Conservation of RET regulatory function from human to zebrafish without sequence similarity
-
Fisher, S., Grice, E.A., Vinton, R.M., Bessling, S.L. and McCallion, A.S. (2006) Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science, 312, 276-279.
-
(2006)
Science
, vol.312
, pp. 276-279
-
-
Fisher, S.1
Grice, E.A.2
Vinton, R.M.3
Bessling, S.L.4
McCallion, A.S.5
-
43
-
-
31344460100
-
-
The University of Chicago Press, Chicago
-
Hall, B.K. (2007) Fins into Limbs. The University of Chicago Press, Chicago.
-
(2007)
Fins into Limbs
-
-
Hall, B.K.1
-
44
-
-
84858702321
-
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
-
Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Matsubara, Y., Saheki, T., Kobayashi, K., Ohura, T. and Kure, S. (2012) Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol. Genet. Metab., 105, 553-558.
-
(2012)
Mol. Genet. Metab.
, vol.105
, pp. 553-558
-
-
Kikuchi, A.1
Arai-Ichinoi, N.2
Sakamoto, O.3
Matsubara, Y.4
Saheki, T.5
Kobayashi, K.6
Ohura, T.7
Kure, S.8
-
45
-
-
0033037729
-
The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
-
Kobayashi, K., Sinasac, D.S., Iijima, M., Boright, A.P., Begum, L., Lee, J.R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H. et al. (1999) The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein. Nat. Genet., 22, 159-163.
-
(1999)
Nat. Genet.
, vol.22
, pp. 159-163
-
-
Kobayashi, K.1
Sinasac, D.S.2
Iijima, M.3
Boright, A.P.4
Begum, L.5
Lee, J.R.6
Yasuda, T.7
Ikeda, S.8
Hirano, R.9
Terazono, H.10
-
46
-
-
9144245537
-
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia
-
Sinasac, D.S., Moriyama, M., Jalil, M.A., Begum, L., Li, M.X., Iijima, M., Horiuchi, M., Robinson, B.H., Kobayashi, K., Saheki, T. et al. (2004) Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Mol. Cell Biol., 24, 527-536.
-
(2004)
Mol. Cell Biol.
, vol.24
, pp. 527-536
-
-
Sinasac, D.S.1
Moriyama, M.2
Jalil, M.A.3
Begum, L.4
Li, M.X.5
Iijima, M.6
Horiuchi, M.7
Robinson, B.H.8
Kobayashi, K.9
Saheki, T.10
-
47
-
-
3042799223
-
Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae
-
Sone, T., Saeki, Y., Toh-e, A. and Yokosawa, H. (2004) Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae. J. Biol. Chem., 279, 28807-28816.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 28807-28816
-
-
Sone, T.1
Saeki, Y.2
Toh-e, A.3
Yokosawa, H.4
-
48
-
-
78649433314
-
Depletion of DSS1 protein disables homologous recombinational repair in human cells
-
Kristensen, C.N., Bystol, K.M., Li, B., Serrano, L. and Brenneman, M.A. (2010) Depletion of DSS1 protein disables homologous recombinational repair in human cells. Mutat. Res., 694, 60-64.
-
(2010)
Mutat. Res.
, vol.694
, pp. 60-64
-
-
Kristensen, C.N.1
Bystol, K.M.2
Li, B.3
Serrano, L.4
Brenneman, M.A.5
-
49
-
-
9244248158
-
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22. 1 and analysis of a candidate gene for its expression during limb development
-
Crackower, M.A., Scherer, S.W., Rommens, J.M., Hui, C.C., Poorkaj, P., Soder, S., Cobben, J.M., Hudgins, L., Evans, J.P. and Tsui, L.C. (1996) Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum. Mol. Genet., 5, 571-579.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 571-579
-
-
Crackower, M.A.1
Scherer, S.W.2
Rommens, J.M.3
Hui, C.C.4
Poorkaj, P.5
Soder, S.6
Cobben, J.M.7
Hudgins, L.8
Evans, J.P.9
Tsui, L.C.10
-
50
-
-
0036909229
-
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
-
Vervoort, V.S., Viljoen, D., Smart, R., Suthers, G., DuPont, B.R., Abbott, A. and Schwartz, C.E. (2002) Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J. Med. Genet., 39, 893-899.
-
(2002)
J. Med. Genet.
, vol.39
, pp. 893-899
-
-
Vervoort, V.S.1
Viljoen, D.2
Smart, R.3
Suthers, G.4
DuPont, B.R.5
Abbott, A.6
Schwartz, C.E.7
-
51
-
-
0036079158
-
The human genome browser at UCSC
-
Kent, W.J., Sugnet, C.W., Furey, T.S., Roskin, K.M., Pringle, T.H., Zahler, A.M. and Haussler, D. (2002) The human genome browser at UCSC. Genome Res., 12, 996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
53
-
-
33751316959
-
In vivo enhancer analysis of human conserved non-coding sequences
-
Pennacchio, L.A., Ahituv, N., Moses, A.M., Prabhakar, S., Nobrega, M.A., Shoukry, M., Minovitsky, S., Dubchak, I., Holt, A., Lewis, K.D. et al. (2006) In vivo enhancer analysis of human conserved non-coding sequences. Nature, 444, 499-502.
-
(2006)
Nature
, vol.444
, pp. 499-502
-
-
Pennacchio, L.A.1
Ahituv, N.2
Moses, A.M.3
Prabhakar, S.4
Nobrega, M.A.5
Shoukry, M.6
Minovitsky, S.7
Dubchak, I.8
Holt, A.9
Lewis, K.D.10
-
54
-
-
77950170293
-
-
3rd edn. Cold Spring Harbor Laboratory Press, Woodbury, NY, USA
-
Andras, N., Marina, G., Kristina, V. and Richard, B. (2003) Manipulating the Mouse Embryo: A Laboratory Manual, 3rd edn. Cold Spring Harbor Laboratory Press, Woodbury, NY, USA.
-
(2003)
Manipulating the Mouse Embryo: A Laboratory Manual
-
-
Andras, N.1
Marina, G.2
Kristina, V.3
Richard, B.4
-
55
-
-
16644391747
-
Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening
-
Thisse, B., Heyer, V., Lux, A., Alunni, V., Degrave, A., Seiliez, I., Kirchner, J., Parkhill, J.P. and Thisse, C. (2004) Spatial and temporal expression of the zebrafish genome by large-scale in situ hybridization screening. Methods Cell Biol., 77, 505-519.
-
(2004)
Methods Cell Biol
, vol.77
, pp. 505-519
-
-
Thisse, B.1
Heyer, V.2
Lux, A.3
Alunni, V.4
Degrave, A.5
Seiliez, I.6
Kirchner, J.7
Parkhill, J.P.8
Thisse, C.9
-
56
-
-
33745904151
-
In situ hybridization of whole-mount embryos
-
Hargrave, M., Bowles, J. and Koopman, P. (2006) In situ hybridization of whole-mount embryos. Methods Mol. Biol., 326, 103-113.
-
(2006)
Methods Mol. Biol.
, vol.326
, pp. 103-113
-
-
Hargrave, M.1
Bowles, J.2
Koopman, P.3
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