-
1
-
-
0016721934
-
Cleidocranial dysostosis
-
Siggers DC Cleidocranial dysostosis. Dev Med Child Neurol. 1975 ; 4: 522-524.
-
(1975)
Dev Med Child Neurol
, vol.4
, pp. 522-524
-
-
Siggers, D.C.1
-
3
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S., Otto F., Mundlos C., et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 1997 ; 89: 773-779.
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
-
4
-
-
0030927622
-
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF/CBFA1 in cleidocranial dysplasia
-
Lee B., Thirunavukkarasu K., Zhou L., et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF/CBFA1 in cleidocranial dysplasia. Nat Genet. 1997 ; 6: 307-310.
-
(1997)
Nat Genet
, vol.6
, pp. 307-310
-
-
Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
-
5
-
-
0033365108
-
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia
-
Quack I., Vonderstrass B., Stock M., et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999 ; 65: 1268-1278.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1268-1278
-
-
Quack, I.1
Vonderstrass, B.2
Stock, M.3
-
6
-
-
0032718003
-
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
-
Zhou G., Chen Y., Zhou L., et al. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet. 1999 ; 8: 2311-2316.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2311-2316
-
-
Zhou, G.1
Chen, Y.2
Zhou, L.3
-
7
-
-
0033048965
-
Cleidocranial dysplasia: Clinical and molecular genetics
-
Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999 ; 36: 177-182.
-
(1999)
J Med Genet
, vol.36
, pp. 177-182
-
-
Mundlos, S.1
-
9
-
-
0028891018
-
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family
-
Mundlos S., Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet. 1995 ; 4: 71-75.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 71-75
-
-
Mundlos, S.1
Mulliken, J.B.2
Abramson, D.L.3
Warman, M.L.4
Knoll, J.H.5
Olsen, B.R.6
-
10
-
-
0030678549
-
Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation
-
Ducy P., Zhang R., Geoffroy V., Ridall A., Karsenty G. Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell. 1997 ; 89: 747-754.
-
(1997)
Cell
, vol.89
, pp. 747-754
-
-
Ducy, P.1
Zhang, R.2
Geoffroy, V.3
Ridall, A.4
Karsenty, G.5
-
11
-
-
0014041929
-
[On the clinical aspects of cleidocranial dysostosis]
-
Schuch P., Fleischer-Peters A. [On the clinical aspects of cleidocranial dysostosis]. Z Kinderheilkd. 1967 ; 98: 107-132.
-
(1967)
Z Kinderheilkd
, vol.98
, pp. 107-132
-
-
Schuch, P.1
Fleischer-Peters, A.2
-
13
-
-
0000836653
-
Cleidocranial dysostosis
-
Cole WR, Levine S. Cleidocranial dysostosis. Br J Radiol. 1951 ; 24: 549-555.
-
(1951)
Br J Radiol
, vol.24
, pp. 549-555
-
-
Cole, W.R.1
Levine, S.2
-
14
-
-
0026601491
-
Intrafamilial variability in cleidocranial dysplasia: A three generation family
-
Chitayat D., Hodgkinson KA, Azouz EM Intrafamilial variability in cleidocranial dysplasia: a three generation family. Am J Med Genet. 1992 ; 42: 298-303.
-
(1992)
Am J Med Genet
, vol.42
, pp. 298-303
-
-
Chitayat, D.1
Hodgkinson, K.A.2
Azouz, E.M.3
-
15
-
-
0027326695
-
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
-
Nienhaus H., Mau U., Zang KD, Henn W. Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. Am J Med Genet. 1993 ; 46: 630-631.
-
(1993)
Am J Med Genet
, vol.46
, pp. 630-631
-
-
Nienhaus, H.1
Mau, U.2
Zang, K.D.3
Henn, W.4
|