-
1
-
-
0034794690
-
Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants
-
Birve, A., Sengupta, A. K., Beuchle, D., Larsson, J., Kennison, J. A., Rasmuson-Lestander, A. & Muller, J. (2001) Su(z)12, a novel Drosophila Polycomb group gene that is conserved in vertebrates and plants. Development 128, 3371-3379.
-
(2001)
Development
, vol.128
, pp. 3371-3379
-
-
Birve, A.1
Sengupta, A.K.2
Beuchle, D.3
Larsson, J.4
Kennison, J.A.5
Rasmuson-Lestander, A.6
Muller, J.7
-
2
-
-
0038485530
-
Heart development: Molecular insights into cardiac specification and early morphogenesis
-
Brand, T. (2003) Heart development: molecular insights into cardiac specification and early morphogenesis. Dev Biol 258, 1-19.
-
(2003)
Dev. Biol.
, vol.258
, pp. 1-19
-
-
Brand, T.1
-
3
-
-
0037730135
-
Elevated risk for MPNST in NF1 microdeletion patients
-
De Raedt, T., Brems, H., Wolkenstein, P., Vidaud, D., Pilotti, S., Perrone, F., Mautner, V., Frahm, S., Sciot, R. & Legius, E. (2003) Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 72, 1288-1292.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1288-1292
-
-
De Raedt, T.1
Brems, H.2
Wolkenstein, P.3
Vidaud, D.4
Pilotti, S.5
Perrone, F.6
Mautner, V.7
Frahm, S.8
Sciot, R.9
Legius, E.10
-
4
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner, M. O., Sybert, V. P., Weaver, M., Pletcher, B. A. & Stephens, K. (2000) NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 9, 35-46.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
5
-
-
0034634294
-
Developmental cardiology comes of age
-
Epstein, J. A. (2000) Developmental cardiology comes of age. Circ Res 87, 833-834.
-
(2000)
Circ. Res.
, vol.87
, pp. 833-834
-
-
Epstein, J.A.1
-
6
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Pothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K., Matsuoka, R., Cohen, J. C. & Srivastava, D. (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424, 443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Pothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
Matsuoka, R.11
Cohen, J.C.12
Srivastava, D.13
-
7
-
-
0035010123
-
Genetic basis of syndromes associated with congenital heart disease
-
Gelb, B. D. (2001) Genetic basis of syndromes associated with congenital heart disease. Curr Opin Cardiol 16, 188-194.
-
(2001)
Curr. Opin. Cardiol.
, vol.16
, pp. 188-194
-
-
Gelb, B.D.1
-
8
-
-
0037665257
-
Holt-Oram syndrome: A new mutation in the TBX5 gene in two unrelated families
-
Gruenauer-Kloevekorn, C. & Froster, U. G. (2003) Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. Ann Genet 46, 19-23.
-
(2003)
Ann. Genet.
, vol.46
, pp. 19-23
-
-
Gruenauer-Kloevekorn, C.1
Froster, U.G.2
-
9
-
-
0003595692
-
The Neurofibromatosis: A clinical and pathogenetic overview
-
Chapman and Hall, London
-
Huson, S. M. & Huges, R. C. (1994) The Neurofibromatosis: a clinical and pathogenetic overview. Chapman and Hall, London.
-
(1994)
-
-
Huson, S.M.1
Huges, R.C.2
-
10
-
-
0034892401
-
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
-
Jenne, D. E., Tinschert, S., Reimann, H., Lasinger, W., Thiel, G., Hameister, H. & Kehrer-Sawatzki, H. (2001) Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 69, 516-527.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 516-527
-
-
Jenne, D.E.1
Tinschert, S.2
Reimann, H.3
Lasinger, W.4
Thiel, G.5
Hameister, H.6
Kehrer-Sawatzki, H.7
-
11
-
-
0033531963
-
Jagged1 mutations inpatients ascertained with isolated congenital heart defects
-
Krantz, I. D., Smith, R., Colliton, R. P., Tinkel, H., Zackai, E. H., Piccoli, D. A., Goldmuntz, E. & Spinner, N. B. (1999) Jagged1 mutations inpatients ascertained with isolated congenital heart defects. Am J Med Genet 84, 56-60.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 56-60
-
-
Krantz, I.D.1
Smith, R.2
Colliton, R.P.3
Tinkel, H.4
Zackai, E.H.5
Piccoli, D.A.6
Goldmuntz, E.7
Spinner, N.B.8
-
12
-
-
0037111831
-
Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein
-
Kuzmichev, A., Nishioka, K., Erdjument-Bromage, H., Tempst, P. & Reinberg, D. (2002) Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein. Genes Dev 16, 2893-2905.
-
(2002)
Genes Dev.
, vol.16
, pp. 2893-2905
-
-
Kuzmichev, A.1
Nishioka, K.2
Erdjument-Bromage, H.3
Tempst, P.4
Reinberg, D.5
-
13
-
-
0034645518
-
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
-
Lin, A. E., Birch, P. H., Korf, B. P,., Tenconi, R., Niimura, M., Poyhonen, M., Armfield Uhas, K., Sigorini, M., Virdis, R., Romano, C., Bonioli, E., Wolkenstein, P., Pivnick, E. K., Lawrence, M. & Friedman, J. M. (2000) Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet 95, 108-117.
-
(2000)
Am. J. Med. Genet.
, vol.95
, pp. 108-117
-
-
Lin, A.E.1
Birch, P.H.2
Korf, B.P.3
Tenconi, R.4
Niimura, M.5
Poyhonen, M.6
Armfield Uhas, K.7
Sigorini, M.8
Virdis, R.9
Romano, C.10
Bonioli, E.11
Wolkenstein, P.12
Pivnick, E.K.13
Lawrence, M.14
Friedman, J.M.15
-
14
-
-
0027700251
-
Nkx-2.5: A novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants
-
Lints, T. J., Parsons, L. M., Hartley, L., Lyons, I. & Harvey, R. P. (1993) Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 119, 419-431.
-
(1993)
Development
, vol.119
, pp. 419-431
-
-
Lints, T.J.1
Parsons, L.M.2
Hartley, L.3
Lyons, I.4
Harvey, R.P.5
-
15
-
-
0036435530
-
Homeotic genes autonomously specify the anteroposterior subdivision of the Drosophila dorsal vessel into aorta and heart
-
Lo, P. C., Skeath,J. B., Gajewski, K., Schulz, R. A. & Frasch, M. (2002) Homeotic genes autonomously specify the anteroposterior subdivision of the Drosophila dorsal vessel into aorta and heart. Dev Biol 251, 307-319.
-
(2002)
Dev. Biol.
, vol.251
, pp. 307-319
-
-
Lo, P.C.1
Skeath, J.B.2
Gajewski, K.3
Schulz, R.A.4
Frasch, M.5
-
16
-
-
0036849903
-
The Hox gene abdominal-A specifies heart cell fate in the Drosophila dorsal vessel
-
Lovato, T. L., Nguyen, T. P., Molina, M. R. & Cripps, P. M. (2002) The Hox gene abdominal-A specifies heart cell fate in the Drosophila dorsal vessel. Development 129, 5019-5027.
-
(2002)
Development
, vol.129
, pp. 5019-5027
-
-
Lovato, T.L.1
Nguyen, T.P.2
Molina, M.R.3
Cripps, P.M.4
-
17
-
-
0036339631
-
A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency
-
McCright, B., Lozier, J. & Gridley, T. (2002) A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 129, 1075-1082.
-
(2002)
Development
, vol.129
, pp. 1075-1082
-
-
McCright, B.1
Lozier, J.2
Gridley, T.3
-
18
-
-
0026504525
-
Homeobox genes and axial patterning
-
McGinnis, W. & Krumlauf, R. (1992) Homeobox genes and axial patterning. Cell 68, 283-302.
-
(1992)
Cell
, vol.68
, pp. 283-302
-
-
McGinnis, W.1
Krumlauf, R.2
-
19
-
-
0034650312
-
Direct activation of a GATA6 cardiac enhancer by Nkx2.5: Evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart
-
Molkentin, J. D., Antos, C., Mercer, B., Taigen, T., Miano, J. M. & Olson, E. N. (2000) Direct activation of a GATA6 cardiac enhancer by Nkx2.5: evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart. Dev Biol 217, 301-309.
-
(2000)
Dev. Biol.
, vol.217
, pp. 301-309
-
-
Molkentin, J.D.1
Antos, C.2
Mercer, B.3
Taigen, T.4
Miano, J.M.5
Olson, E.N.6
-
21
-
-
0030914459
-
Mutations in the human Jagged1 gene are responsible for Alagille syndrome
-
Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S. & Chandrasekharappa, S. C. (1997) Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16, 235-242.
-
(1997)
Nat. Genet.
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
Piccoli, D.A.7
Meltzer, P.S.8
Spinner, N.B.9
Collins, F.S.10
Chandrasekharappa, S.C.11
-
22
-
-
0036800397
-
Heart tube patterning in Drosophila requires integration of axial and segmental information provided by the Bithorax Complex genes and hedgehog signaling
-
Ponzielli, R., Astier, M., Chartier, A., Gallet, A., Therond, P. & Semeriva, M. (2002) Heart tube patterning in Drosophila requires integration of axial and segmental information provided by the Bithorax Complex genes and hedgehog signaling. Development 129, 4509-4521.
-
(2002)
Development
, vol.129
, pp. 4509-4521
-
-
Ponzielli, R.1
Astier, M.2
Chartier, A.3
Gallet, A.4
Therond, P.5
Semeriva, M.6
-
23
-
-
0033909456
-
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
-
Riva, P., Corrado, L., Natacci, F., Castorina, P., Wu, B. L., Schneider, G. H., Clementi, M., Tenconi, R., Korf, B. R. & Larizza, L. (2000) NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 66, 100-109.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 100-109
-
-
Riva, P.1
Corrado, L.2
Natacci, F.3
Castorina, P.4
Wu, B.L.5
Schneider, G.H.6
Clementi, M.7
Tenconi, R.8
Korf, B.R.9
Larizza, L.10
-
24
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2-5
-
Schott, J. J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., Maron, B. J., Seidman, C. E. & Seidman, J. G. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281, 108-111.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
Pease, W.4
Silberbach, G.M.5
Moak, J.P.6
Maron, B.J.7
Seidman, C.E.8
Seidman, J.G.9
-
25
-
-
0029583152
-
Induction of avian cardiac myogenesis by anterior endoderm
-
Schultheiss, T. M., Xydas, S. & Lassar, A. B. (1995) Induction of avian cardiac myogenesis by anterior endoderm. Development 121, 4203-4214.
-
(1995)
Development
, vol.121
, pp. 4203-4214
-
-
Schultheiss, T.M.1
Xydas, S.2
Lassar, A.B.3
-
26
-
-
0036073842
-
The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis
-
Shirai, M., Osugi, T., Koga, H., Kaji, Y., Takimoto, E., Komuro, I., Hara, J., Miwa, T., Yamauchi-Takihara, K. & Takihara, Y. (2002) The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis. J Clin Invest 110, 177-184.
-
(2002)
J. Clin. Invest.
, vol.110
, pp. 177-184
-
-
Shirai, M.1
Osugi, T.2
Koga, H.3
Kaji, Y.4
Takimoto, E.5
Komuro, I.6
Hara, J.7
Miwa, T.8
Yamauchi-Takihara, K.9
Takihara, Y.10
-
27
-
-
0032907924
-
The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development
-
Tanaka, M., Chen, Z., Bartunkova, S., Yamasaki, N. & Izumo, S. (1999) The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 126, 1269-1280.
-
(1999)
Development
, vol.126
, pp. 1269-1280
-
-
Tanaka, M.1
Chen, Z.2
Bartunkova, S.3
Yamasaki, N.4
Izumo, S.5
-
28
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A., Kucherlapati, R. S. & Gelb, B. D. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29, 465-468.
-
(2001)
Nat. Genet.
, vol.29
, pp. 465-468
-
-
Tartaglia, M.1
Mehler, E.L.2
Goldberg, R.3
Zampino, G.4
Brunner, H.G.5
Kremer, H.6
van der Burgt, I.7
Crosby, A.H.8
Ion, A.9
Jeffery, S.10
Kalidas, K.11
Patton, M.A.12
Kucherlapati, R.S.13
Gelb, B.D.14
-
29
-
-
0030711593
-
Do NF1 gene deletions result in a characteristic phenotype?
-
Tonsgard, J. H., Yelavarthi, K. K., Cushner, S., Short, M. P. & Lindgren, V. (1997) Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet 73, 80-86.
-
(1997)
Am. J. Med. Genet.
, vol.73
, pp. 80-86
-
-
Tonsgard, J.H.1
Yelavarthi, K.K.2
Cushner, S.3
Short, M.P.4
Lindgren, V.5
-
30
-
-
2942750226
-
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions
-
Venturin, M., Gervasini, C., Orzan, F., Bentivegna, A., Corrado, L., Colapietro, P., Friso, A., Tenconi, R., Upadhyaya, M., Larizza, L. & Riva, P. (2004a) Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet 115, 69-80.
-
(2004)
Hum. Genet.
, vol.115
, pp. 69-80
-
-
Venturin, M.1
Gervasini, C.2
Orzan, F.3
Bentivegna, A.4
Corrado, L.5
Colapietro, P.6
Friso, A.7
Tenconi, R.8
Upadhyaya, M.9
Larizza, L.10
Riva, P.11
-
31
-
-
9144227397
-
Mental retardation and cardiovascular malformations in NF1-microdeleted patients point to candidate genes in 17q11.2
-
Venturin, M., Guanieri, P., Natacci, F., Stabile, M., Tenconi, R., Clementi, M., Hernandez, C., Thompson, P., Upadhyaya, M., Larizza, L. & Riva, P. (2004b) Mental retardation and cardiovascular malformations in NF1-microdeleted patients point to candidate genes in 17q11.2. J Med Genet 41, 35-41.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 35-41
-
-
Venturin, M.1
Guanieri, P.2
Natacci, F.3
Stabile, M.4
Tenconi, R.5
Clementi, M.6
Hernandez, C.7
Thompson, P.8
Upadhyaya, M.9
Larizza, L.10
Riva, P.11
-
32
-
-
0142075198
-
The oligodendrocyte-myelin glycoprotein gene is highly expressed during the late stages of myelination in the rat central nervous system
-
Vourc'h, P., Dessay, S., Mbarek, O., Marouillat Vedrine, S., Muh, J. P. & Andres, C. (2003) The oligodendrocyte-myelin glycoprotein gene is highly expressed during the late stages of myelination in the rat central nervous system. Brain Res Dev Brain Res 144, 159-168.
-
(2003)
Brain Res. Dev. Brain Res.
, vol.144
, pp. 159-168
-
-
Vourc'h, P.1
Dessay, S.2
Mbarek, O.3
Marouillat Vedrine, S.4
Muh, J.P.5
Andres, C.6
-
33
-
-
0036011165
-
Identification of centaurin-alpha2: A phosphatidylinositide-binding protein present in fat, heart and skeletal muscle
-
Whitley, P., Gibbard, A. M., Koumanov, F., Oldfield, S., Kilgour, E. E., Prestwich, G. D. & Holman, G. D. (2002) Identification of centaurin-alpha2: a phosphatidylinositide-binding protein present in fat, heart and skeletal muscle. Eur J Cell Biol 81, 222-230.
-
(2002)
Eur. J. Cell Biol.
, vol.81
, pp. 222-230
-
-
Whitley, P.1
Gibbard, A.M.2
Koumanov, F.3
Oldfield, S.4
Kilgour, E.E.5
Prestwich, G.D.6
Holman, G.D.7
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