-
1
-
-
0003140712
-
The clinical significance of 22q11 deletion
-
E.B. Clark, R.R. Markwald, & A. Takao. New York: Futura
-
Burn J., Wilson D.I., Cross I., et al. The clinical significance of 22q11 deletion. Clark E.B., Markwald R.R., Takao A. Developmental mechanisms of heart disease. 1995;559-567 Futura, New York.
-
(1995)
Developmental mechanisms of heart disease
, pp. 559-567
-
-
Burn, J.1
Wilson, D.I.2
Cross, I.3
-
2
-
-
0000025287
-
Discussion on a new concept of the cellular basis of immunity
-
DiGeorge A.M. Discussion on a new concept of the cellular basis of immunity. J Pediatr. 67:1965;907-908.
-
(1965)
J Pediatr
, vol.67
, pp. 907-908
-
-
DiGeorge, A.M.1
-
3
-
-
0003047494
-
Facial appearance of patients with conotruncal anomalies
-
Kinouchi A., Mori K., Ando M., Takao A. Facial appearance of patients with conotruncal anomalies. Pediatr Jpn. 17:1976;84.
-
(1976)
Pediatr Jpn
, vol.17
, pp. 84
-
-
Kinouchi, A.1
Mori, K.2
Ando, M.3
Takao, A.4
-
4
-
-
0002055560
-
Etiologic categorization of common congenital heart disease
-
R. Van Praagh, & A. Takao. New York: Futura
-
Takao A., Ando M., Cho K., Kinouchi A., Murakami Y. Etiologic categorization of common congenital heart disease. Van Praagh R., Takao A. Etiology and morphogenesis of congenital heart disease. 1980;253-269 Futura, New York.
-
(1980)
Etiology and morphogenesis of congenital heart disease
, pp. 253-269
-
-
Takao, A.1
Ando, M.2
Cho, K.3
Kinouchi, A.4
Murakami, Y.5
-
5
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen R.J., Goldberg R.B., Lewin M.L., et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 15:1978;56-62.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
-
6
-
-
0033753819
-
The 22q11 deletion syndromes
-
Scambler P.J. The 22q11 deletion syndromes. Hum Mol Genet. 9:2000;2421-2426.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2421-2426
-
-
Scambler, P.J.1
-
7
-
-
0035514706
-
Chromosomal microdeletions: Dissectiog del 22q11 syndrome
-
Lindsay E.A. Chromosomal microdeletions: dissectiog del 22q11 syndrome. Nat Rev Genet. 2:2001;858-868.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 858-868
-
-
Lindsay, E.A.1
-
8
-
-
0036596250
-
The 22q11.2 deletion syndrome
-
Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med. 51:2002;77-88.
-
(2002)
Keio J Med
, vol.51
, pp. 77-88
-
-
Yamagishi, H.1
-
9
-
-
0035263599
-
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay E.A., Vitelli F., Su H., et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 410:2001;97-101.
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
-
10
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 27:2001;286-291.
-
(2001)
Nat Genet
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
11
-
-
17744395906
-
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/ DiGeorge syndrome
-
Merscher S., Funke B., Epstein J.B., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 104:2001;619-629.
-
(2001)
Cell
, vol.104
, pp. 619-629
-
-
Merscher, S.1
Funke, B.2
Epstein, J.B.3
-
12
-
-
0035653927
-
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
-
Gong W., Gottelieb S., Collins, et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet. 38:2001;e45.
-
(2001)
J Med Genet
, vol.38
, pp. 45
-
-
Gong, W.1
Gottelieb, S.2
Collins3
-
13
-
-
0038364111
-
DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 Gene
-
Conti E., Grifone N., Sarkozy A., et al. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene. Eur J Hum Genet. 11:2003;349-351.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 349-351
-
-
Conti, E.1
Grifone, N.2
Sarkozy, A.3
-
14
-
-
0022965184
-
Regional location of a novel yes-related protooncogene, syn, on human chromosome 6 at band q21
-
Yoshida M.C., Satoh H., Sasaki M., et al. Regional location of a novel yes-related protooncogene, syn, on human chromosome 6 at band q21. Jpn J Cancer Res. 77:1986;1059-1061.
-
(1986)
Jpn J Cancer Res
, vol.77
, pp. 1059-1061
-
-
Yoshida, M.C.1
Satoh, H.2
Sasaki, M.3
-
15
-
-
0031659846
-
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
-
Matsuoka R., Kimura M., Scambler P.J., et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 103:1998;70-80.
-
(1998)
Hum Genet
, vol.103
, pp. 70-80
-
-
Matsuoka, R.1
Kimura, M.2
Scambler, P.J.3
-
16
-
-
0030980842
-
Human BAC library: Construction and rapid screening
-
Asakawa S., Abe I., Kudoh Y., et al. Human BAC library: construction and rapid screening. Gene. 191:1997;69-79.
-
(1997)
Gene
, vol.191
, pp. 69-79
-
-
Asakawa, S.1
Abe, I.2
Kudoh, Y.3
-
17
-
-
4243981412
-
Genotype-phenotype correlations in del 22q11.2 syndrome
-
E.B. Clark, M. Nakazawa, & A. Takao. New York: Futura
-
Matsuoka R., Furutani M., Kimura M., et al. Genotype-phenotype correlations in del 22q11.2 syndrome. Clark E.B., Nakazawa M., Takao A. Etiology and morphogenesis of congenital heart disease. 2000;341-346 Futura, New York.
-
(2000)
Etiology and morphogenesis of congenital heart disease
, pp. 341-346
-
-
Matsuoka, R.1
Furutani, M.2
Kimura, M.3
-
18
-
-
0031904734
-
Phenotypic discordance in monozygotic twins with 22q11.2 deletion
-
Yamagishi H., Ishii C., Maeda J., et al. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet. 78:1998;319-321.
-
(1998)
Am J Med Genet
, vol.78
, pp. 319-321
-
-
Yamagishi, H.1
Ishii, C.2
Maeda, J.3
-
19
-
-
0032769144
-
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
-
MacQuade L., Christodoulou J., Budarf M., et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet. 86:1999;27-33.
-
(1999)
Am J Med Genet
, vol.86
, pp. 27-33
-
-
MacQuade, L.1
Christodoulou, J.2
Budarf, M.3
-
20
-
-
0037160529
-
Murine Tbx2 contains domains that activate and repress gene transcription
-
Paxton C., Zhao H., Chin Y., Langner K., Reecy J. Murine Tbx2 contains domains that activate and repress gene transcription. Gene. 283:2002;117-124.
-
(2002)
Gene
, vol.283
, pp. 117-124
-
-
Paxton, C.1
Zhao, H.2
Chin, Y.3
Langner, K.4
Reecy, J.5
-
22
-
-
0025054992
-
Expression pattern of the mouse T gene and its role in mesoderm formation
-
Wilkinson D.G., Bhatt S., Herrmann B.G. Expression pattern of the mouse T gene and its role in mesoderm formation. Nature. 343:1990;657-659.
-
(1990)
Nature
, vol.343
, pp. 657-659
-
-
Wilkinson, D.G.1
Bhatt, S.2
Herrmann, B.G.3
-
23
-
-
0037389229
-
T-box genes in human disorders
-
Peckam E.A., Brook J.D. T-box genes in human disorders. Hum Mol Genet. 12:(suppl):2003;R37-R44.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SUPPL.
-
-
Peckam, E.A.1
Brook, J.D.2
-
24
-
-
0035115845
-
T-targets: Clues to understanding the functions of T-box proteins
-
Tada M., Smith J.C. T-targets: clues to understanding the functions of T-box proteins. Dev Growth Differ. 43:2001;1-11.
-
(2001)
Dev Growth Differ
, vol.43
, pp. 1-11
-
-
Tada, M.1
Smith, J.C.2
-
25
-
-
0036800398
-
An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome
-
Frank D.U., Fotheringham L.K., Brewer J.A., et al. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development. 129:2002;4591-4603.
-
(2002)
Development
, vol.129
, pp. 4591-4603
-
-
Frank, D.U.1
Fotheringham, L.K.2
Brewer, J.A.3
-
26
-
-
0036797067
-
A genetic link between Tbx1 and fibroblast growth factor signaling
-
Vitelli F., Taddei I., Morishima M., et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 129:2002;4605-4611.
-
(2002)
Development
, vol.129
, pp. 4605-4611
-
-
Vitelli, F.1
Taddei, I.2
Morishima, M.3
-
27
-
-
0036800025
-
Fgf8 is required for pharingeal arch and cardiovascular development
-
Abu-Issa R., Smyth G., Smock I., Yamamura K., Meyers E.N. Fgf8 is required for pharingeal arch and cardiovascular development. Development. 129:2002;4613-4625.
-
(2002)
Development
, vol.129
, pp. 4613-4625
-
-
Abu-Issa, R.1
Smyth, G.2
Smock, I.3
Yamamura, K.4
Meyers, E.N.5
-
28
-
-
0037439240
-
Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer
-
Yamagishi H., Maeda J., Hu T., et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17:2003;269-281.
-
(2003)
Genes Dev
, vol.17
, pp. 269-281
-
-
Yamagishi, H.1
Maeda, J.2
Hu, T.3
-
29
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
Matsuoka R., Takao A., Kimura M., et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. Am J Med Genet. 53:1994;285-289.
-
(1994)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
-
30
-
-
0028246223
-
Velocardiofacial syndrome and DiGeorge sequence
-
Shprintzen R.J. Velocardiofacial syndrome and DiGeorge sequence. Med Genet. 31:1994;423-424.
-
(1994)
Med Genet
, vol.31
, pp. 423-424
-
-
Shprintzen, R.J.1
|