-
1
-
-
0027429307
-
De Lange syndrome: a clinical review of 310 individuals
-
Jackson L., Kline A., Barr M., and Koch S. De Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47 (1993) 940-946
-
(1993)
Am J Med Genet
, vol.47
, pp. 940-946
-
-
Jackson, L.1
Kline, A.2
Barr, M.3
Koch, S.4
-
2
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
-
Gillis L., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., Kline A., Li H., Devoto M., Jackson L., and Krantz I. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75 (2004) 610-623
-
(2004)
Am J Hum Genet
, vol.75
, pp. 610-623
-
-
Gillis, L.1
McCallum, J.2
Kaur, M.3
DeScipio, C.4
Yaeger, D.5
Mariani, A.6
Kline, A.7
Li, H.8
Devoto, M.9
Jackson, L.10
Krantz, I.11
-
3
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz I., McCallum J., DeScipio C., Kaur M., Gillis L., Yaeger D., Jukofsky L., Wasserman N., Bottani A., Morris C., Nowaczyk M., Toriello H., Bamshad M., Carey J., Rappaport E., Kawauchi S., Lander A., Calof A., Li H., Devoto M., and Jackson L. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36 (2004) 631-635
-
(2004)
Nat Genet
, vol.36
, pp. 631-635
-
-
Krantz, I.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.10
Nowaczyk, M.11
Toriello, H.12
Bamshad, M.13
Carey, J.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.17
Calof, A.18
Li, H.19
Devoto, M.20
Jackson, L.21
more..
-
4
-
-
0034444407
-
Epidemiology of cardiovascular malformations: prevalence and risk factors
-
Loffredo C. Epidemiology of cardiovascular malformations: prevalence and risk factors. Am J Med Genet 97 (2000) 319-325
-
(2000)
Am J Med Genet
, vol.97
, pp. 319-325
-
-
Loffredo, C.1
-
5
-
-
4444320851
-
Heart valve development: endothelial cell signaling and differentiation
-
Armstrong E., and Bischoff J. Heart valve development: endothelial cell signaling and differentiation. Circ Res 95 (2004) 459-470
-
(2004)
Circ Res
, vol.95
, pp. 459-470
-
-
Armstrong, E.1
Bischoff, J.2
-
7
-
-
21044437380
-
Spectrum of calcific aortic valve disease: pathogenesis, disease progression, and treatment strategies
-
Freeman R., and Otto C. Spectrum of calcific aortic valve disease: pathogenesis, disease progression, and treatment strategies. Circulation 111 (2005) 3316-3326
-
(2005)
Circulation
, vol.111
, pp. 3316-3326
-
-
Freeman, R.1
Otto, C.2
-
8
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg V., Muth A., Ransom J., Schluterman M., Barnes R., King I., Grossfeld P., and Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature 437 7056 (2005) 270-274
-
(2005)
Nature
, vol.437
, Issue.7056
, pp. 270-274
-
-
Garg, V.1
Muth, A.2
Ransom, J.3
Schluterman, M.4
Barnes, R.5
King, I.6
Grossfeld, P.7
Srivastava, D.8
-
9
-
-
0033617522
-
Notch signaling: cell fate control and signal integration in development
-
Artavanis-Tsakonas S., Rand M., and Lake R. Notch signaling: cell fate control and signal integration in development. Science 284 (1999) 770-776
-
(1999)
Science
, vol.284
, pp. 770-776
-
-
Artavanis-Tsakonas, S.1
Rand, M.2
Lake, R.3
|