-
2
-
-
0001966695
-
Williams syndrome: An unusual neuropsychological profile
-
Broman SH, Grafman J, editors. Atypical cognitive deficit in developmental disorders: implications for brain function. Hillsdale, N.J.: Lawrence Erlbaum Associates, Inc.
-
(1994)
, pp. 23-56
-
-
Bellugi, U.1
Wang, P.P.2
Jernigan, T.3
-
12
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
(1993)
Nature Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Weishan, J.4
Sternes, K.5
Spallone, P.6
Stock, D.A.7
Leppert, M.8
Keating, M.T.9
-
13
-
-
0027481680
-
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 3226-3230
-
-
Ewart, A.K.1
Morris, C.A.2
Ensing, G.J.3
Loker, J.4
Moore, C.5
Leppert, M.6
Keating, M.7
-
14
-
-
15844375659
-
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.M.1
Ewart, A.2
Morris, C.A.3
Mervis, C.B.4
Bertrand, J.5
Robinson, B.F.6
Klein, B.P.7
Ensing, G.8
Everett, L.A.9
Green, E.D.10
Proschel, C.11
Gutowski, N.J.12
Noble, M.13
Atkinson, D.L.14
Odelberg, S.J.15
Keating, M.T.16
-
25
-
-
0032554898
-
Elastin is an essential determinant of arterial morphogenesis
-
(1998)
Nature
, vol.393
, pp. 276-280
-
-
Li, D.Y.1
Brooke, B.2
Davis, E.C.3
Mecham, R.P.4
Sorensen, L.K.5
Boak, B.B.6
Eichwald, E.7
Keating, M.T.8
-
26
-
-
0032533870
-
Novel arterial pathology in mice and humans hemizygous for elastin
-
(1998)
J Clin Invest
, vol.102
, pp. 1783-1787
-
-
Li, D.Y.1
Faury, G.2
Taylor, D.G.3
Davis, E.C.4
Boyle, W.A.5
Mecham, R.P.6
Stenzel, P.7
Boak, B.8
Keating, M.T.9
-
27
-
-
0030804005
-
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1021-1028
-
-
Li, D.Y.1
Toland, A.E.2
Boak, B.B.3
Atkinson, D.L.4
Ensing, G.J.5
Morris, C.A.6
Keadng, M.T.7
-
35
-
-
0032941142
-
Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
-
(1999)
J Pediatr
, vol.134
, pp. 82-89
-
-
Partsch, C.J.1
Dreyer, G.2
Gosch, A.3
Winter, M.4
Schneppenheim, R.5
Wessel, A.6
Pankau, R.7
-
37
-
-
0033939577
-
A physical map, including a BAC/PAC clone contig of the Williams-Beuren syndrome deletion region at 7q11.23
-
(2000)
Am J Hum Genet
, vol.66
, pp. 47-67
-
-
Peoples, R.1
Franke, Y.2
Wang, Y.-K.3
Perez-Jurado, L.4
Paperna, T.5
Cisco, M.6
Franke, U.7
-
39
-
-
0004263661
-
The language instinct
-
London: Penguin
-
(1994)
-
-
Pinker, S.1
-
44
-
-
0001982170
-
Interaction between language and cognition: Evidence from Williams syndrome
-
Beitchman JH, Cohen NJ, Konstantareas MM, Tannock R, editors. Language, learning, and behavior disorders: developmental, biological, and clinical perspectives. New York: Cambridge University Press
-
(1996)
, pp. 367-392
-
-
Rossen, M.1
Klima, E.S.2
Bellugi, U.3
Bihrle, A.4
Jones, W.5
-
48
-
-
0029949025
-
LIM-kinase deleted in Williams syndrome
-
(1996)
Nature Genet
, vol.13
, pp. 272-273
-
-
Tassabehji, M.1
Metcalfe, K.2
Fergusson, W.D.3
Carette, M.J.4
Dore, J.K.5
Donnai, D.6
Read, A.P.7
Proschel, C.8
Gutowski, N.J.9
Mao, X.10
Sheer, D.11
-
49
-
-
0031833314
-
An elastin gene mutation producing abnormal tropelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1021-1028
-
-
Tassabehji, M.1
Metcalfe, K.2
Hurst, J.3
Ashcroft, G.S.4
Kielty, C.5
Wilmot, C.6
Donnai, D.7
Read, A.P.8
Jones, C.J.P.9
-
50
-
-
0033366703
-
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
-
(1999)
Am J Hum Genet
, vol.64
, pp. 118-125
-
-
Tassabehji, M.1
Metcalfe, K.2
Karmiloff-Smith, A.3
Carette, M.J.4
Grant, J.5
Dennis, N.6
Reardon, W.7
Splitt, M.8
Read, A.P.9
Donnai, D.10
-
51
-
-
0006817129
-
Can atypical phenotypes be used to fractionate the language system? The case of Williams syndrome
-
in press
-
(2000)
Language and Cognitive Processes
-
-
Thomas, M.S.C.1
Grant, J.2
Gsodl, M.3
Laing, E.4
Barham, Z.5
Lakusta, L.6
Tyler, L.K.7
Grice, S.8
Paterson, S.9
Karmiloff-Smith, A.10
-
53
-
-
0029798778
-
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
-
(1996)
Am J Hum Genet
, vol.59
, pp. 958-962
-
-
Urban, Z.1
Helms, C.2
Fekete, G.3
Csiszar, K.4
Bonnet, D.5
Munnich, A.6
Donis-Keller, H.7
Boyd, C.D.8
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