-
1
-
-
0038728033
-
Mutational mechanisms of williams-beuren syndrome deletions
-
Bayés M, Megano LF, Rivera N, Flores R, Pérez Jurado LA: Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 73: 131-151 (2003).
-
(2003)
Am J Hum Genet
, vol.73
, pp. 131-151
-
-
Bayés, M.1
Megano, L.F.2
Rivera, N.3
Flores, R.4
Pérez Jurado, L.A.5
-
2
-
-
0035025387
-
American academy of pediatrics: Health care supervision for children with williams syndrome
-
Committee on Genetics: American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics 107: 1192-1204 (2001).
-
(2001)
Pediatrics
, vol.107
, pp. 1192-1204
-
-
Committee on Genetics1
-
3
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, williams syndrome
-
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, et al: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5: 11-16 (1993).
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
-
4
-
-
15844375659
-
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition
-
Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, et al: LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86: 59-69 (1996).
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.M.1
Ewart, A.K.2
Morris, C.A.3
Mervis, C.B.4
Bertrand, J.5
-
5
-
-
10744229701
-
Williams syndrome deficits in visual spatial processing linked to gtf2ird1 and gtf2i on chromosome 7q11.23
-
Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, et al: Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. Genet Med 5: 311-321 (2003).
-
(2003)
Genet Med
, vol.5
, pp. 311-321
-
-
Hirota, H.1
Matsuoka, R.2
Chen, X.N.3
Salandanan, L.S.4
Lincoln, A.5
-
6
-
-
77951563658
-
Inversion of the williams syndrome region is a common polymorphism found more frequently in parents of children with williams syndrome
-
Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, et al: Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet 154C:220-228 (2010).
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 220-228
-
-
Hobart, H.H.1
Morris, C.A.2
Mervis, C.B.3
Pani, A.M.4
Kistler, D.J.5
-
7
-
-
17744365741
-
Elastin: Mutational spectrum in supravalvular aortic stenosis
-
Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, et al: Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8: 955-963 (2000).
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 955-963
-
-
Metcalfe, K.1
Rucka, A.K.2
Smoot, L.3
Hofstadler, G.4
Tuzler, G.5
-
8
-
-
78049399000
-
The behavioral phenotype of williams syndrome: A recognizable pattern of neurodevelopment
-
Morris CA: The behavioral phenotype of Williams syndrome: a recognizable pattern of neurodevelopment. Am J Med Genet C Semin Med Genet 154C:427-431 (2010a).
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 427-431
-
-
Morris, C.A.1
-
10
-
-
10744221593
-
GTF2I hemizygosity implicated in mental retardation in williams syndrome: Genotype-phenotype analysis of five families with deletions in the williams syndrome region
-
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, et al: GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A 123: 45-59 (2003).
-
(2003)
Am J Med Genet A
, vol.123
, pp. 45-59
-
-
Morris, C.A.1
Mervis, C.B.2
Hobart, H.H.3
Gregg, R.G.4
Bertrand, J.5
-
11
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with williams-beuren syndrome
-
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, et al: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 29: 321-325 (2001).
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
Chitayat, D.4
Bodurtha, J.5
-
12
-
-
74849117906
-
Williams-beuren syndrome
-
Pober BR: Williams-Beuren syndrome. N Engl J Med 362: 239-252 (2010).
-
(2010)
N Engl J Med
, vol.362
, pp. 239-252
-
-
Pober, B.R.1
-
13
-
-
23944514580
-
Observation of a parental inversion variant in a rare williams-beuren syndrome family with two affected children
-
Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, et al: Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet 117: 383-388 (2005).
-
(2005)
Hum Genet
, vol.117
, pp. 383-388
-
-
Scherer, S.W.1
Gripp, K.W.2
Lucena, J.3
Nicholson, L.4
Bonnefont, J.P.5
-
14
-
-
63449107365
-
The genomic basis of the williams-beuren syndrome
-
Schubert C: The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 66: 1178-1197 (2009).
-
(2009)
Cell Mol Life Sci
, vol.66
, pp. 1178-1197
-
-
Schubert, C.1
-
16
-
-
84857820281
-
Autistic disorder in patients with williams-beuren syndrome: A reconsideration of the williams-beuren syndrome phenotype
-
Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, et al: Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One 7:e30778 (2012).
-
(2012)
PLoS One
, vol.7
-
-
Tordjman, S.1
Anderson, G.M.2
Botbol, M.3
Toutain, A.4
Sarda, P.5
-
17
-
-
33947217224
-
Contribution of cyln2 and gtf2ird1 to neurological and cognitive symptoms in williams syndrome
-
Van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, et al: Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams syndrome. Neurobiol Dis 26: 112-124 (2007).
-
(2007)
Neurobiol Dis
, vol.26
, pp. 112-124
-
-
Van Hagen, J.M.1
Van Der Geest, J.N.2
Van Der Giessen, R.S.3
Lagers-Van Haselen, G.C.4
Eussen, H.J.5
-
18
-
-
79960082887
-
Initiation of a medical genetics service in sub-saharan africa: Experience of prenatal diagnosis in cameroon
-
Wonkam A, Tekendo NC, Sama DJ, Zambo H, Dahoun S, et al: Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon. Eur J Med Genet 54:e399-e404 (2011).
-
(2011)
Eur J Med Genet
, vol.54
, pp. e399-e404
-
-
Wonkam, A.1
Tekendo, N.C.2
Sama, D.J.3
Zambo, H.4
Dahoun, S.5
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