-
1
-
-
36949040344
-
Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome
-
Cohen, M.S., Anderson, R.H., Cohen, M.I., Atz, A.M., Fogel, M., Gruber, P.J., Lopez, L., Rome, J.J. and Weinberg, P.M. (2007) Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome. Cardiol. Young, 17 (Suppl. 2), 29-43.
-
(2007)
Cardiol. Young
, vol.17
, Issue.SUPPL. 2
, pp. 29-43
-
-
Cohen, M.S.1
Anderson, R.H.2
Cohen, M.I.3
Atz, A.M.4
Fogel, M.5
Gruber, P.J.6
Lopez, L.7
Rome, J.J.8
Weinberg, P.M.9
-
2
-
-
77049284332
-
Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases
-
Ivemark B.I. (1955) Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. Acta Paediatr. Suppl., 44, 7-110.
-
(1955)
Acta Paediatr. Suppl.
, vol.44
, pp. 7-110
-
-
Ivemark, B.I.1
-
3
-
-
28644444971
-
Hearts with isomerism of the right atrial appendages-one of the worst forms of disease in 2005
-
Freedom, R.M., Jaeggi, E.T., Lim, J.S. and Anderson, R.H. (2005) Hearts with isomerism of the right atrial appendages-one of the worst forms of disease in 2005. Cardiol. Young, 15, 554-567.
-
(2005)
Cardiol. Young
, vol.15
, pp. 554-567
-
-
Freedom, R.M.1
Jaeggi, E.T.2
Lim, J.S.3
Anderson, R.H.4
-
4
-
-
0034528956
-
Heterotaxy: associated conditions and hospital-based prevalence in newborns
-
Lin, A.E., Ticho, B.S., Houde, K., Westgate, M.N. and Holmes, L.B. (2000) Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet. Med., 2, 157-172.
-
(2000)
Genet. Med.
, vol.2
, pp. 157-172
-
-
Lin, A.E.1
Ticho, B.S.2
Houde, K.3
Westgate, M.N.4
Holmes, L.B.5
-
5
-
-
27144480791
-
Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes
-
Lim, J.S., McCrindle, B.W., Smallhorn, J.F., Golding, F., Caldarone, C.A., Taketazu, M. and Jaeggi, E.T. (2005) Clinical features, management, and outcome of children with fetal and postnatal diagnoses of isomerism syndromes. Circulation, 112, 2454-2461.
-
(2005)
Circulation
, vol.112
, pp. 2454-2461
-
-
Lim, J.S.1
McCrindle, B.W.2
Smallhorn, J.F.3
Golding, F.4
Caldarone, C.A.5
Taketazu, M.6
Jaeggi, E.T.7
-
6
-
-
16944364984
-
X-linked situs abnormalities result from mutations in ZIC3
-
Gebbia, M., Ferrero, G.B., Pilia, G., Bassi, M.T., Aylsworth, A., Penman-Splitt, M., Bird, L.M., Bamforth, J.S., Burn, J., Schlessinger, D. et al. (1997) X-linked situs abnormalities result from mutations in ZIC3. Nat. Genet., 17, 305-308.
-
(1997)
Nat. Genet.
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
Bassi, M.T.4
Aylsworth, A.5
Penman-Splitt, M.6
Bird, L.M.7
Bamforth, J.S.8
Burn, J.9
Schlessinger, D.10
-
7
-
-
0033768239
-
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
-
Bamford, R.N., Roessler, E., Burdine, R.D., Saplakoglu, U., dela Cruz, J., Splitt, M., Goodship, J.A., Towbin, J., Bowers, P., Ferrero, G.B. et al. (2000) Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat. Genet., 26, 365-369.
-
(2000)
Nat. Genet.
, vol.26
, pp. 365-369
-
-
Bamford, R.N.1
Roessler, E.2
Burdine, R.D.3
Saplakoglu, U.4
dela Cruz, J.5
Splitt, M.6
Goodship, J.A.7
Towbin, J.8
Bowers, P.9
Ferrero, G.B.10
-
8
-
-
0032919663
-
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
-
Kosaki, R., Gebbia, M., Kosaki, K., Lewin, M., Bowers, P., Towbin, J.A. and Casey, B. (1999) Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am. J. Med. Genet., 82, 70-76.
-
(1999)
Am. J. Med. Genet.
, vol.82
, pp. 70-76
-
-
Kosaki, R.1
Gebbia, M.2
Kosaki, K.3
Lewin, M.4
Bowers, P.5
Towbin, J.A.6
Casey, B.7
-
9
-
-
60549091742
-
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations
-
Mohapatra, B., Casey, B., Li, H., Ho-Dawson, T., Smith, L., Fernbach, S.D., Molinari, L., Niesh, S.R., Jefferies, J.L., Craigen, W.J. et al. (2009) Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum. Mol. Genet., 18, 861-871.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 861-871
-
-
Mohapatra, B.1
Casey, B.2
Li, H.3
Ho-Dawson, T.4
Smith, L.5
Fernbach, S.D.6
Molinari, L.7
Niesh, S.R.8
Jefferies, J.L.9
Craigen, W.J.10
-
10
-
-
0033361929
-
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development
-
Kosaki, K., Bassi, M.T., Kosaki, R., Lewin, M., Belmont, J., Schauer, G. and Casey, B. (1999) Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am. J. Hum. Genet., 64, 712-721.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 712-721
-
-
Kosaki, K.1
Bassi, M.T.2
Kosaki, R.3
Lewin, M.4
Belmont, J.5
Schauer, G.6
Casey, B.7
-
11
-
-
1342329563
-
Right atrial isomerism in four siblings
-
Eronen, M., Kajantie, E., Boldt, T., Pitkanen, O. and Aittomaki, K. (2004) Right atrial isomerism in four siblings. Pediatr. Cardiol., 25, 141-144.
-
(2004)
Pediatr. Cardiol.
, vol.25
, pp. 141-144
-
-
Eronen, M.1
Kajantie, E.2
Boldt, T.3
Pitkanen, O.4
Aittomaki, K.5
-
12
-
-
0034050737
-
Regulation of left-right patterning in mice by growth/differentiation factor-1
-
Rankin, C.T., Bunton, T., Lawler, A.M. and Lee, S.J. (2000) Regulation of left-right patterning in mice by growth/differentiation factor-1. Nat. Genet., 24, 262-265.
-
(2000)
Nat. Genet.
, vol.24
, pp. 262-265
-
-
Rankin, C.T.1
Bunton, T.2
Lawler, A.M.3
Lee, S.J.4
-
14
-
-
33646198366
-
Synergistic interaction between Gdf1 and nodal during anterior axis development
-
Andersson, O., Reissmann, E., Jornvall, H. and Ibanez, C.F. (2006) Synergistic interaction between Gdf1 and nodal during anterior axis development. Dev. Biol., 293, 370-381.
-
(2006)
Dev. Biol.
, vol.293
, pp. 370-381
-
-
Andersson, O.1
Reissmann, E.2
Jornvall, H.3
Ibanez, C.F.4
-
15
-
-
0037106188
-
Nodal activity in the node governs left-right asymmetry
-
Brennan, J., Norris, D.P. and Robertson, E.J. (2002) Nodal activity in the node governs left-right asymmetry. Genes Dev., 16, 2339-2344.
-
(2002)
Genes Dev.
, vol.16
, pp. 2339-2344
-
-
Brennan, J.1
Norris, D.P.2
Robertson, E.J.3
-
16
-
-
37249093137
-
Long-range action of nodal requires interaction with GDF1
-
Tanaka, C., Sakuma, R., Nakamura, T., Hamada, H. and Saijoh, Y. (2007) Long-range action of nodal requires interaction with GDF1. Genes Dev., 21, 3272-3282.
-
(2007)
Genes Dev.
, vol.21
, pp. 3272-3282
-
-
Tanaka, C.1
Sakuma, R.2
Nakamura, T.3
Hamada, H.4
Saijoh, Y.5
-
17
-
-
35348897209
-
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans
-
Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M.V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J.W. et al. (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am. J. Hum. Genet., 81, 987-994.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 987-994
-
-
Karkera, J.D.1
Lee, J.S.2
Roessler, E.3
Banerjee-Basu, S.4
Ouspenskaia, M.V.5
Mez, J.6
Goldmuntz, E.7
Bowers, P.8
Towbin, J.9
Belmont, J.W.10
-
18
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
-
(2002)
Nat. Genet.
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
19
-
-
0036079158
-
The human genome browser at UCSC
-
996-1006
-
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. 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
-
20
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen, S. and Skaletsky, H. (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol., 132, 365-386.
-
(2000)
Methods Mol. Biol.
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
21
-
-
33846287978
-
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
-
Joensuu, T., Kuronen, M., Alakurtti, K., Tegelberg, S., Hakala, P., Aalto, A., Huopaniemi, L., Aula, N., Michellucci, R., Eriksson, K. et al. (2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur. J. Hum. Genet., 15, 185-193.
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 185-193
-
-
Joensuu, T.1
Kuronen, M.2
Alakurtti, K.3
Tegelberg, S.4
Hakala, P.5
Aalto, A.6
Huopaniemi, L.7
Aula, N.8
Michellucci, R.9
Eriksson, K.10
-
22
-
-
33846057724
-
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
-
Pruitt, K.D., Tatusova, T. and Maglott, D.R. (2007) NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res., 35, D61-D65.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Pruitt, K.D.1
Tatusova, T.2
Maglott, D.R.3
-
23
-
-
9944241753
-
Left-right asymmetry in embryonic development: a comprehensive review
-
Levin, M. (2005) Left-right asymmetry in embryonic development: a comprehensive review. Mech. Dev., 122, 3-25.
-
(2005)
Mech. Dev.
, vol.122
, pp. 3-25
-
-
Levin, M.1
-
24
-
-
57149127744
-
The development and evolution of left-right asymmetry in invertebrates: lessons from Drosophila and snails
-
Okumura, T., Utsuno, H., Kuroda, J., Gittenberger, E., Asami, T. and Matsuno, K. (2008) The development and evolution of left-right asymmetry in invertebrates: lessons from Drosophila and snails. Dev. Dyn., 237, 3497-3515.
-
(2008)
Dev. Dyn.
, vol.237
, pp. 3497-3515
-
-
Okumura, T.1
Utsuno, H.2
Kuroda, J.3
Gittenberger, E.4
Asami, T.5
Matsuno, K.6
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