-
1
-
-
0030636780
-
Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson CT, Bachinsky DR, Lin R, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. 1997. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15:30-35.
-
(1997)
Nat Genet
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.3
Levi, T.4
Elkins, J.A.5
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
Renault, B.11
Kucherlapati, R.12
Seidman, J.G.13
Seidman, C.E.14
-
2
-
-
0033788894
-
The mutation spectrum in Holt-Oram syndrome
-
Cross SJ, Ching Y-H, Li QY, Armstrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner C-A, Brook JD, Newbury-Ecob R. 2000. The mutation spectrum in Holt-Oram syndrome. J Med Genet 37:785-787.
-
(2000)
J Med Genet
, vol.37
, pp. 785-787
-
-
Cross, S.J.1
Ching, Y.-H.2
Li, Q.Y.3
Armstrong-Buisseret, L.4
Spranger, S.5
Lyonnet, S.6
Bonnet, D.7
Penttinen, M.8
Jonveaux, P.9
Leheup, B.10
Mortier, G.11
Van Ravenswaaij, C.12
Gardiner, C.-A.13
Brook, J.D.14
Newbury-Ecob, R.15
-
5
-
-
0021362906
-
Applications of pattern profile analysis to malformations of the head and face
-
Garn SM, Smith BH, Lavelle M. 1984. Applications of pattern profile analysis to malformations of the head and face. Radiology 150:683-690.
-
(1984)
Radiology
, vol.150
, pp. 683-690
-
-
Garn, S.M.1
Smith, B.H.2
Lavelle, M.3
-
7
-
-
0035445835
-
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
-
Ghosh TK, Packham EA, Bonser AJ, Robinson TE, Cross SJ, Brook JD. 2001. Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Gen 10:1983-1994.
-
(2001)
Hum Mol Gen
, vol.10
, pp. 1983-1994
-
-
Ghosh, T.K.1
Packham, E.A.2
Bonser, A.J.3
Robinson, T.E.4
Cross, S.J.5
Brook, J.D.6
-
8
-
-
0000846120
-
Familial heart disease with skeletal malformations
-
Holt M, Oram S. 1960. Familial heart disease with skeletal malformations. Br Heart J 22:236-242.
-
(1960)
Br Heart J
, vol.22
, pp. 236-242
-
-
Holt, M.1
Oram, S.2
-
9
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
-
Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis ARJ, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn A, Buckler AJ, Law DJ, Brook ID. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 15:21-29.
-
(1997)
Nat Genet
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terrett, J.A.3
Wilson, D.I.4
Curtis, A.R.J.5
Yi, C.H.6
Gebuhr, T.7
Bullen, P.J.8
Robson, S.C.9
Strachan, T.10
Bonnet, D.11
Lyonnet, S.12
Young, I.D.13
Raeburn, A.14
Buckler, A.J.15
Law, D.J.16
Brook, I.D.17
-
11
-
-
0034092616
-
Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes
-
Ward RE, Allanson JE, Jamison P. 2000. Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes. Am J Med Genet 91:8-17.
-
(2000)
Am J Med Genet
, vol.91
, pp. 8-17
-
-
Ward, R.E.1
Allanson, J.E.2
Jamison, P.3
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