-
2
-
-
0001447853
-
Supravalvular aortic stenosis in association with mental retardation and certain facial appearance
-
A.J. Beuren, J. Apitz, and D. Harmjanz Supravalvular aortic stenosis in association with mental retardation and certain facial appearance Circulation 26 1962 1235 1240
-
(1962)
Circulation
, vol.26
, pp. 1235-1240
-
-
Beuren, A.J.1
Apitz, J.2
Harmjanz, D.3
-
3
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
A.K. Ewart, C.A. Morris, and D. Atkinson Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome Nat Genet 5 1993 11 16
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
-
5
-
-
0025070995
-
Williams syndrome professional symposium
-
F. Greenberg Williams syndrome professional symposium Am J Med Genet 6 1990 89 96 [Suppl.]
-
(1990)
Am J Med Genet
, vol.6
, pp. 89-96
-
-
Greenberg, F.1
-
6
-
-
0018865534
-
Zur Genetik des Willialms-Beuren-Syndroms und der Ioslierten Form der Supravalvularen Aortenstenose Untensuchungenvon 128 Familien
-
T. Grimm, and H. Wesselhoeft Zur Genetik des Willialms-Beuren-Syndroms und der Ioslierten Form der Supravalvularen Aortenstenose Untensuchungenvon 128 Familien Z Kardiol 69 1980 168 172
-
(1980)
Z Kardiol
, vol.69
, pp. 168-172
-
-
Grimm, T.1
Wesselhoeft, H.2
-
7
-
-
0022521057
-
Williams syndrome
-
J. Burn Williams syndrome J Med Genet 23 1986 389 395
-
(1986)
J Med Genet
, vol.23
, pp. 389-395
-
-
Burn, J.1
-
8
-
-
0023688145
-
Natural history of Williams syndrome: Physical characteristics
-
C.A. Morris, S.A. Demsey, C.O. Leonard, C. Dilts, and B.L. Blackburn Natural history of Williams syndrome: physical characteristics J Pediatr 113 1988 318 326
-
(1988)
J Pediatr
, vol.113
, pp. 318-326
-
-
Morris, C.A.1
Demsey, S.A.2
Leonard, C.O.3
Dilts, C.4
Blackburn, B.L.5
-
9
-
-
0036344319
-
Cardiovascular manifestations in 75 patients with Williams syndrome
-
M. Eronen, M. Peippo, and A. Hiippala Cardiovascular manifestations in 75 patients with Williams syndrome J Med Genet 39 2002 554 558
-
(2002)
J Med Genet
, vol.39
, pp. 554-558
-
-
Eronen, M.1
Peippo, M.2
Hiippala, A.3
-
10
-
-
0027246281
-
Generalized arteriopathy in Williams syndrome: An intravascular ultrasound study
-
A.J. Rein, T.J. Preminger, S.B. Perry, J.E. Lock, and S.P. Sanders Generalized arteriopathy in Williams syndrome: an intravascular ultrasound study J Am Coll Cardiol 21 1993 1727 1730
-
(1993)
J Am Coll Cardiol
, vol.21
, pp. 1727-1730
-
-
Rein, A.J.1
Preminger, T.J.2
Perry, S.B.3
Lock, J.E.4
Sanders, S.P.5
-
11
-
-
0023939477
-
Cardiac anomalies in Williams-Beuren syndrome
-
K.A. Hallidie-Smith, and S. Karas Cardiac anomalies in Williams-Beuren syndrome Arch Dis Child 63 1988 809 813
-
(1988)
Arch Dis Child
, vol.63
, pp. 809-813
-
-
Hallidie-Smith, K.A.1
Karas, S.2
-
13
-
-
0024358961
-
The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome
-
N.G. Giddins, J.P. Finley, M.A. Nanton, and D.L. Roy The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome Br Heart J 62 1989 315 319
-
(1989)
Br Heart J
, vol.62
, pp. 315-319
-
-
Giddins, N.G.1
Finley, J.P.2
Nanton, M.A.3
Roy, D.L.4
-
14
-
-
0034753813
-
Anomalies of the abdominal aorta in Williams-Beuren syndrome-another cause of arterial hypertension
-
C. Rose, A. Wessel, R. Pankau, C.J. Partsch, and J. Bursch Anomalies of the abdominal aorta in Williams-Beuren syndrome-another cause of arterial hypertension Eur J Pediatr 160 2001 655 658
-
(2001)
Eur J Pediatr
, vol.160
, pp. 655-658
-
-
Rose, C.1
Wessel, A.2
Pankau, R.3
Partsch, C.J.4
Bursch, J.5
-
15
-
-
0034323846
-
The middle aortic syndrome: An important feature of Williams' syndrome
-
D.J. Radford, and P.G. Pohlner The middle aortic syndrome: an important feature of Williams' syndrome Cardiol Young 10 2000 597 602
-
(2000)
Cardiol Young
, vol.10
, pp. 597-602
-
-
Radford, D.J.1
Pohlner, P.G.2
-
17
-
-
0033597289
-
Elevated ambulatory blood pressure in 20 subjects with Williams syndrome
-
K. Broder, E. Reinhardt, J. Ahern, R. Lifton, W. Tamborlane, and B. Pober Elevated ambulatory blood pressure in 20 subjects with Williams syndrome Am J Med Genet 83 1999 356 360
-
(1999)
Am J Med Genet
, vol.83
, pp. 356-360
-
-
Broder, K.1
Reinhardt, E.2
Ahern, J.3
Lifton, R.4
Tamborlane, W.5
Pober, B.6
-
18
-
-
0027730258
-
Williams-Beuren syndrome: A 30-year follow-up of natural and postoperative course
-
D. Kececioglu, S. Kotthoff, and J. Vogt Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course Eur Heart J 14 1993 1458 1464
-
(1993)
Eur Heart J
, vol.14
, pp. 1458-1464
-
-
Kececioglu, D.1
Kotthoff, S.2
Vogt, J.3
-
19
-
-
0030377179
-
Sudden death in Williams syndrome: Report of ten cases
-
L.M. Bird, G.F. Billman, and R.V. Lacro Sudden death in Williams syndrome: report of ten cases J Pediatr 129 1996 926 931
-
(1996)
J Pediatr
, vol.129
, pp. 926-931
-
-
Bird, L.M.1
Billman, G.F.2
Lacro, R.V.3
-
20
-
-
0036945937
-
Coronary artery disease and anesthesia-related death in children with Williams syndrome
-
P.E. Horowitz, S. Akhtar, J.A. Wulff, F. Al Fadley, and Z. Al Halees Coronary artery disease and anesthesia-related death in children with Williams syndrome J Cardiothorac Vasc Anesth 16 2002 739 741
-
(2002)
J Cardiothorac Vasc Anesth
, vol.16
, pp. 739-741
-
-
Horowitz, P.E.1
Akhtar, S.2
Wulff, J.A.3
Al Fadley, F.4
Al Halees, Z.5
-
21
-
-
0035136866
-
Congenital supravalvar aortic stenosis: A simple lesion?
-
C. Stamm, I. Friehs, S.Y. Ho, A.M. Moran, R.A. Jonas, and P.J. del Nido Congenital supravalvar aortic stenosis: a simple lesion? Eur J Cardio-Thorac Surg 19 2001 195 202
-
(2001)
Eur J Cardio-Thorac Surg
, vol.19
, pp. 195-202
-
-
Stamm, C.1
Friehs, I.2
Ho, S.Y.3
Moran, A.M.4
Jonas, R.A.5
Del Nido, P.J.6
-
22
-
-
0029006028
-
Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome
-
R. Soper, J.C. Chaloupka, and P.B. Fayad Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome J Pediatr 126 1995 945 948
-
(1995)
J Pediatr
, vol.126
, pp. 945-948
-
-
Soper, R.1
Chaloupka, J.C.2
Fayad, P.B.3
-
23
-
-
0033823337
-
Mechanical properties of the common carotid artery in Williams syndrome
-
Y. Aggoun, D. Sidi, B.I. Levy, S. Lyonnet, J. Kachaner, and D. Bonnet Mechanical properties of the common carotid artery in Williams syndrome Heart 84 2000 290 293
-
(2000)
Heart
, vol.84
, pp. 290-293
-
-
Aggoun, Y.1
Sidi, D.2
Levy, B.I.3
Lyonnet, S.4
Kachaner, J.5
Bonnet, D.6
-
24
-
-
0034873459
-
Evaluation of arterial stiffness in children with Williams syndrome: Does it play a role in evolving hypertension?
-
K.J. Salaymeh, and A. Banerjee Evaluation of arterial stiffness in children with Williams syndrome: does it play a role in evolving hypertension? Am Heart J 142 2001 549 555
-
(2001)
Am Heart J
, vol.142
, pp. 549-555
-
-
Salaymeh, K.J.1
Banerjee, A.2
-
25
-
-
0026768011
-
Statural growth in Williams-Beuren syndrome
-
R. Pankau, C.J. Partsch, A. Gosch, H.C. Oppermann, and A. Wessel Statural growth in Williams-Beuren syndrome Eur J Pediatr 151 1992 751 755
-
(1992)
Eur J Pediatr
, vol.151
, pp. 751-755
-
-
Pankau, R.1
Partsch, C.J.2
Gosch, A.3
Oppermann, H.C.4
Wessel, A.5
-
26
-
-
0032941142
-
Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
-
C.J. Partsch, G. Dreyer, and A. Gosch Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome J Pediatr 134 1999 82 89
-
(1999)
J Pediatr
, vol.134
, pp. 82-89
-
-
Partsch, C.J.1
Dreyer, G.2
Gosch, A.3
-
27
-
-
0037998972
-
Dental characteristics in Williams syndrome: A clinical and radiographic evaluation
-
S. Axelsson, T. Bjornland, I. Kjaer, A. Heiberg, and K. Storhaug Dental characteristics in Williams syndrome: a clinical and radiographic evaluation Acta Odontol Scand 61 2003 129 136
-
(2003)
Acta Odontol Scand
, vol.61
, pp. 129-136
-
-
Axelsson, S.1
Bjornland, T.2
Kjaer, I.3
Heiberg, A.4
Storhaug, K.5
-
30
-
-
0024206463
-
The Williams syndrome. Spectrum and significance of ocular features
-
F. Greenberg, and R.A. Lewis The Williams syndrome. Spectrum and significance of ocular features Ophthalmology 95 1988 1608 1612
-
(1988)
Ophthalmology
, vol.95
, pp. 1608-1612
-
-
Greenberg, F.1
Lewis, R.A.2
-
31
-
-
0029965910
-
The spectrum of ocular features in the Williams-Beuren syndrome
-
M. Winter, R. Pankau, M. Amm, A. Gosch, and A. Wessel The spectrum of ocular features in the Williams-Beuren syndrome Clin Genet 49 1996 28 31
-
(1996)
Clin Genet
, vol.49
, pp. 28-31
-
-
Winter, M.1
Pankau, R.2
Amm, M.3
Gosch, A.4
Wessel, A.5
-
34
-
-
0021260566
-
Idiopathic infantile hypercalcaemia-a continuing enigma
-
N.D. Martin, G.J. Snodgrass, and R.D. Cohen Idiopathic infantile hypercalcaemia-a continuing enigma Arch Dis Child 59 1984 605 613
-
(1984)
Arch Dis Child
, vol.59
, pp. 605-613
-
-
Martin, N.D.1
Snodgrass, G.J.2
Cohen, R.D.3
-
36
-
-
0033609916
-
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
-
V. Cammareri, G. Vignati, G. Nocera, P. Beck-Peccoz, and L. Persani Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome Am J Med Genet 85 1999 491 494
-
(1999)
Am J Med Genet
, vol.85
, pp. 491-494
-
-
Cammareri, V.1
Vignati, G.2
Nocera, G.3
Beck-Peccoz, P.4
Persani, L.5
-
37
-
-
21744452542
-
Prevalence of hypothyroidism and compensated hypothyroidism in Williams syndrome
-
B. Pober, T.O. Carpenter, and D. Breault Prevalence of hypothyroidism and compensated hypothyroidism in Williams syndrome 21st W. David, Smith Workshop on Malformation and Morphogenesis, La Jolla, CA 2000
-
(2000)
21st W. David, Smith Workshop on Malformation and Morphogenesis, la Jolla, CA
-
-
Pober, B.1
Carpenter, T.O.2
Breault, D.3
-
38
-
-
0028147989
-
Adults with Williams-Beuren syndrome: Evaluation of the medical, psychological and behavioral aspects
-
L. Plissart, M. Borghgraef, P. Volcke, H. Van den Berghe, and J.P. Fryns Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects Clin Genet 46 1994 161 167
-
(1994)
Clin Genet
, vol.46
, pp. 161-167
-
-
Plissart, L.1
Borghgraef, M.2
Volcke, P.3
Van Den Berghe, H.4
Fryns, J.P.5
-
39
-
-
0034046450
-
Sudden death of a 21-year-old female with Williams syndrome showing rare complications
-
S. Imashuku, S. Hayashi, K. Kuriyama, S. Hibi, Y. Tabata, and S. Todo Sudden death of a 21-year-old female with Williams syndrome showing rare complications Pediatr Int 42 2000 322 324
-
(2000)
Pediatr Int
, vol.42
, pp. 322-324
-
-
Imashuku, S.1
Hayashi, S.2
Kuriyama, K.3
Hibi, S.4
Tabata, Y.5
Todo, S.6
-
40
-
-
0035740006
-
Clinical features of a senior patient with Williams syndrome
-
A. Nakaji, Y. Kawame, C. Nagai, and M. Iwata Clinical features of a senior patient with Williams syndrome Rinsho Shinkeigaku 41 2001 592 598
-
(2001)
Rinsho Shinkeigaku
, vol.41
, pp. 592-598
-
-
Nakaji, A.1
Kawame, Y.2
Nagai, C.3
Iwata, M.4
-
42
-
-
3543104083
-
Impaired glucose tolerance in Williams syndrome
-
B. Pober, E. Wang, K. Petersen, L.R. Osborne, and S. Caprio Impaired glucose tolerance in Williams syndrome Am J Hum Genet 69 2001 302A
-
(2001)
Am J Hum Genet
, vol.69
-
-
Pober, B.1
Wang, E.2
Petersen, K.3
Osborne, L.R.4
Caprio, S.5
-
43
-
-
0027311316
-
Renal findings in 40 individuals with Williams syndrome
-
B.R. Pober, R.V. Lacro, C. Rice, V. Mandell, and R.L. Teele Renal findings in 40 individuals with Williams syndrome Am J Med Genet 46 1993 271 274
-
(1993)
Am J Med Genet
, vol.46
, pp. 271-274
-
-
Pober, B.R.1
Lacro, R.V.2
Rice, C.3
Mandell, V.4
Teele, R.L.5
-
44
-
-
0029931944
-
Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome
-
R. Pankau, C.J. Partsch, M. Winter, A. Gosch, and A. Wessel Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome Am J Med Genet 63 1996 301 304
-
(1996)
Am J Med Genet
, vol.63
, pp. 301-304
-
-
Pankau, R.1
Partsch, C.J.2
Winter, M.3
Gosch, A.4
Wessel, A.5
-
47
-
-
0030009867
-
Williams syndrome associated with chronic renal failure and various endocrinological abnormalities
-
M. Ichinose, K. Tojo, and K. Nakamura Williams syndrome associated with chronic renal failure and various endocrinological abnormalities Intern Med 35 1996 482 488
-
(1996)
Intern Med
, vol.35
, pp. 482-488
-
-
Ichinose, M.1
Tojo, K.2
Nakamura, K.3
-
48
-
-
0030891870
-
Independence and adaptive behavior in adults with Williams syndrome
-
M. Davies, P. Howlin, and O. Udwin Independence and adaptive behavior in adults with Williams syndrome Am J Med Genet 70 1997 188 195
-
(1997)
Am J Med Genet
, vol.70
, pp. 188-195
-
-
Davies, M.1
Howlin, P.2
Udwin, O.3
-
49
-
-
0030392689
-
Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome
-
S.L. Schulman, S. Zderic, and P. Kaplan Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome J Pediatr 129 1996 466 469
-
(1996)
J Pediatr
, vol.129
, pp. 466-469
-
-
Schulman, S.L.1
Zderic, S.2
Kaplan, P.3
-
50
-
-
0030070557
-
Neurologic findings in children and adults with Williams syndrome
-
C.A. Chapman, A. du Plessis, and B.R. Pober Neurologic findings in children and adults with Williams syndrome J Child Neurol 11 1996 63 65
-
(1996)
J Child Neurol
, vol.11
, pp. 63-65
-
-
Chapman, C.A.1
Du Plessis, A.2
Pober, B.R.3
-
51
-
-
0024348718
-
Neurologic features of Williams and Down syndromes
-
D.A. Trauner, U. Bellugi, and C. Chase Neurologic features of Williams and Down syndromes Pediatr Neurol 5 1989 166 168
-
(1989)
Pediatr Neurol
, vol.5
, pp. 166-168
-
-
Trauner, D.A.1
Bellugi, U.2
Chase, C.3
-
52
-
-
21744458475
-
Distinct neurological profile in Williams syndrome
-
B. Pober, and A. Szekely Distinct neurological profile in Williams syndrome Am J Hum Genet 65 1999 367A
-
(1999)
Am J Hum Genet
, vol.65
-
-
Pober, B.1
Szekely, A.2
-
53
-
-
0028942218
-
Association of Chiari I malformation and Williams syndrome
-
B.R. Pober, and J.J. Filiano Association of Chiari I malformation and Williams syndrome Pediatr Neurol 12 1995 84 88
-
(1995)
Pediatr Neurol
, vol.12
, pp. 84-88
-
-
Pober, B.R.1
Filiano, J.J.2
-
54
-
-
0026794990
-
Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation
-
P.P. Wang, J.R. Hesselink, T.L. Jernigan, S. Doherty, and U. Bellugi Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation Neurology 42 1992 1999 2002
-
(1992)
Neurology
, vol.42
, pp. 1999-2002
-
-
Wang, P.P.1
Hesselink, J.R.2
Jernigan, T.L.3
Doherty, S.4
Bellugi, U.5
-
55
-
-
0029789458
-
Memory abilities in children with Williams syndrome
-
S. Vicari, D. Brizzolara, G.A. Carlesimo, G. Pezzini, and V. Volterra Memory abilities in children with Williams syndrome Cortex 32 1996 503 514
-
(1996)
Cortex
, vol.32
, pp. 503-514
-
-
Vicari, S.1
Brizzolara, D.2
Carlesimo, G.A.3
Pezzini, G.4
Volterra, V.5
-
56
-
-
0001913261
-
Spatial defects in children with Williams syndrome
-
U. Bellugi Lawrence Erlbaum Associates Hillsdale, NJ
-
U. Bellugi, H. Sabo, and V. Vaid Spatial defects in children with Williams syndrome U. Bellugi Spatial cognition: brain bases and development 1988 Lawrence Erlbaum Associates Hillsdale, NJ 273 298
-
(1988)
Spatial Cognition: Brain Bases and Development
, pp. 273-298
-
-
Bellugi, U.1
Sabo, H.2
Vaid, V.3
-
57
-
-
0031951531
-
Cognitive functioning in adults with Williams syndrome
-
P. Howlin, M. Davies, and O. Udwin Cognitive functioning in adults with Williams syndrome J Child Psychol Psychiatry 39 1998 183 189
-
(1998)
J Child Psychol Psychiatry
, vol.39
, pp. 183-189
-
-
Howlin, P.1
Davies, M.2
Udwin, O.3
-
58
-
-
0031895069
-
Verbal and nonverbal abilities in the Williams syndrome phenotype: Evidence for diverging developmental trajectories
-
C. Jarrold, A.D. Baddeley, and A.K. Hewes Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories J Child Psychol Psychiatry 39 1998 511 523
-
(1998)
J Child Psychol Psychiatry
, vol.39
, pp. 511-523
-
-
Jarrold, C.1
Baddeley, A.D.2
Hewes, A.K.3
-
60
-
-
0035033379
-
Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships
-
R.T. Schultz, D.J. Grelotti, and B. Pober Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships J Am Acad Child Adolesc Psych 40 2001 606 609
-
(2001)
J Am Acad Child Adolesc Psych
, vol.40
, pp. 606-609
-
-
Schultz, R.T.1
Grelotti, D.J.2
Pober, B.3
-
62
-
-
0037229860
-
Neural correlates of auditory perception in Williams syndrome: An fMRI study
-
D.J. Levitin, V. Menon, and J.E. Schmitt Neural correlates of auditory perception in Williams syndrome: an fMRI study Neuroimage 18 2003 74 82
-
(2003)
Neuroimage
, vol.18
, pp. 74-82
-
-
Levitin, D.J.1
Menon, V.2
Schmitt, J.E.3
-
63
-
-
0023243798
-
Williams syndrome: Features in late childhood and adolescence
-
R.A. Pagon, F.C. Bennett, B. LaVeck, K.B. Stewart, and J. Johnson Williams syndrome: features in late childhood and adolescence Pediatrics 80 1987 85 91
-
(1987)
Pediatrics
, vol.80
, pp. 85-91
-
-
Pagon, R.A.1
Bennett, F.C.2
Laveck, B.3
Stewart, K.B.4
Johnson, J.5
-
64
-
-
0025022133
-
Hypothesis for development of a behavioral phenotype in Williams syndrome
-
C.V. Dilts, C.A. Morris, and C.O. Leonard Hypothesis for development of a behavioral phenotype in Williams syndrome Am J Med Genet Suppl 6 1990 126 131
-
(1990)
Am J Med Genet Suppl
, vol.6
, pp. 126-131
-
-
Dilts, C.V.1
Morris, C.A.2
Leonard, C.O.3
-
65
-
-
0025736209
-
A cognitive and behavioural phenotype in Williams syndrome
-
O. Udwin, and W. Yule A cognitive and behavioural phenotype in Williams syndrome J Clin Exp Neuropsychol 13 1991 232 244
-
(1991)
J Clin Exp Neuropsychol
, vol.13
, pp. 232-244
-
-
Udwin, O.1
Yule, W.2
-
66
-
-
0033797627
-
Williams syndrome and happiness
-
K. Levine, and R. Wharton Williams syndrome and happiness Am J Ment Retard 105 2000 363 371
-
(2000)
Am J Ment Retard
, vol.105
, pp. 363-371
-
-
Levine, K.1
Wharton, R.2
-
67
-
-
0025103554
-
Williams syndrome in twins
-
M.B. Murphy, F. Greenberg, G. Wilson, M. Hughes, and J. DiLiberti Williams syndrome in twins Am J Med Genet Suppl 6 1990 97 99
-
(1990)
Am J Med Genet Suppl
, vol.6
, pp. 97-99
-
-
Murphy, M.B.1
Greenberg, F.2
Wilson, G.3
Hughes, M.4
Diliberti, J.5
-
68
-
-
0027366004
-
Williams syndrome: Autosomal dominant inheritance
-
C.A. Morris, I.T. Thomas, and F. Greenberg Williams syndrome: autosomal dominant inheritance Am J Med Genet 47 1993 478 481
-
(1993)
Am J Med Genet
, vol.47
, pp. 478-481
-
-
Morris, C.A.1
Thomas, I.T.2
Greenberg, F.3
-
69
-
-
0027429044
-
The Williams syndrome: Evidence for possible autosomal dominant inheritance
-
L.S. Sadler, L.K. Robinson, K.R. Verdaasdonk, and R. Gingell The Williams syndrome: evidence for possible autosomal dominant inheritance Am J Med Genet 47 1993 468 470
-
(1993)
Am J Med Genet
, vol.47
, pp. 468-470
-
-
Sadler, L.S.1
Robinson, L.K.2
Verdaasdonk, K.R.3
Gingell, R.4
-
70
-
-
0024344541
-
Autosomal dominant supravalvular aortic stenosis: Large three-generation family
-
M.A. Schmidt, G.J. Ensing, V.V. Michels, G.A. Carter, D.J. Hagler, and R.H. Feldt Autosomal dominant supravalvular aortic stenosis: large three-generation family Am J Med Genet 32 1989 384 389
-
(1989)
Am J Med Genet
, vol.32
, pp. 384-389
-
-
Schmidt, M.A.1
Ensing, G.J.2
Michels, V.V.3
Carter, G.A.4
Hagler, D.J.5
Feldt, R.H.6
-
73
-
-
0021991968
-
Supravalvular aortic stenosis. Clinical and pathologic observations in six patients
-
W.N. O'Connor, J.B. Davis Jr., R. Geissler, C.M. Cottrill, J.A. Noonan, and E.P. Todd Supravalvular aortic stenosis. Clinical and pathologic observations in six patients Arch Pathol Lab Med 109 1985 179 185
-
(1985)
Arch Pathol Lab Med
, vol.109
, pp. 179-185
-
-
O'Connor, W.N.1
Davis Jr., J.B.2
Geissler, R.3
Cottrill, C.M.4
Noonan, J.A.5
Todd, E.P.6
-
74
-
-
0027481680
-
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7
-
A.K. Ewart, C.A. Morris, and G.J. Ensing A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7 Proc Natl Acad Sci U S A 90 1993 3226 3230
-
(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
-
75
-
-
0027236402
-
Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7
-
T.M. Olson, V.V. Michels, and N.M. Lindor Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7 Hum Mol Genet 2 1993 869 873
-
(1993)
Hum Mol Genet
, vol.2
, pp. 869-873
-
-
Olson, T.M.1
Michels, V.V.2
Lindor, N.M.3
-
76
-
-
0027403375
-
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
-
M.E. Curran, D.L. Atkinson, A.K. Ewart, C.A. Morris, M.F. Leppert, and M.T. Keating The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis Cell 73 1993 159 168
-
(1993)
Cell
, vol.73
, pp. 159-168
-
-
Curran, M.E.1
Atkinson, D.L.2
Ewart, A.K.3
Morris, C.A.4
Leppert, M.F.5
Keating, M.T.6
-
77
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
E. Nickerson, F. Greenberg, M.T. Keating, C. McCaskill, and L.G. Shaffer Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome Am J Hum Genet 56 1995 1156 1161
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
McCaskill, C.4
Shaffer, L.G.5
-
78
-
-
0029015848
-
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
-
M.C. Lowery, C.A. Morris, and A. Ewart Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients Am J Hum Genet 57 1995 49 53
-
(1995)
Am J Hum Genet
, vol.57
, pp. 49-53
-
-
Lowery, M.C.1
Morris, C.A.2
Ewart, A.3
-
79
-
-
0029130680
-
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
-
A. Mari, F. Amati, and R. Mingarelli Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome Hum Genet 96 1995 444 448
-
(1995)
Hum Genet
, vol.96
, pp. 444-448
-
-
Mari, A.1
Amati, F.2
Mingarelli, R.3
-
80
-
-
0002391264
-
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
-
L.A. Perez Jurado, R. Peoples, P. Kaplan, B.C. Hamel, and U. Francke Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth Am J Hum Genet 59 1996 781 792
-
(1996)
Am J Hum Genet
, vol.59
, pp. 781-792
-
-
Perez Jurado, L.A.1
Peoples, R.2
Kaplan, P.3
Hamel, B.C.4
Francke, U.5
-
81
-
-
0030848775
-
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome
-
L.R. Osborne, S. Soder, and X.M. Shi Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome Am J Hum Genet 61 1997 449 452
-
(1997)
Am J Hum Genet
, vol.61
, pp. 449-452
-
-
Osborne, L.R.1
Soder, S.2
Shi, X.M.3
-
82
-
-
0031794713
-
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
-
X. Meng, X. Lu, and Z. Li Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes Hum Genet 103 1998 590 599
-
(1998)
Hum Genet
, vol.103
, pp. 590-599
-
-
Meng, X.1
Lu, X.2
Li, Z.3
-
83
-
-
0031811718
-
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin
-
Y.Q. Wu, V.R. Sutton, and E. Nickerson Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin Am J Med Genet 78 1998 82 89
-
(1998)
Am J Med Genet
, vol.78
, pp. 82-89
-
-
Wu, Y.Q.1
Sutton, V.R.2
Nickerson, E.3
-
84
-
-
0029831686
-
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
-
F. Dutly, and A. Schinzel Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome Hum Mol Genet 5 1996 1893 1898
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1893-1898
-
-
Dutly, F.1
Schinzel, A.2
-
85
-
-
0029798778
-
7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover
-
Z. Urban, C. Helms, and G. Fekete 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover Am J Hum Genet 59 1996 958 962
-
(1996)
Am J Hum Genet
, vol.59
, pp. 958-962
-
-
Urban, Z.1
Helms, C.2
Fekete, G.3
-
86
-
-
0032837598
-
Williams-Beuren syndrome: Genes and mechanisms
-
U. Francke Williams-Beuren syndrome: genes and mechanisms Hum Mol Genet 8 1999 1947 1954
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1947-1954
-
-
Francke, U.1
-
87
-
-
0032775557
-
Williams-Beuren syndrome: Unraveling the mysteries of a microdeletion disorder
-
L.R. Osborne Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder Mol Genet Metab 67 1999 1 10
-
(1999)
Mol Genet Metab
, vol.67
, pp. 1-10
-
-
Osborne, L.R.1
-
88
-
-
0033939577
-
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23
-
R. Peoples, Y. Franke, and Y.K. Wang A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23 Am J Hum Genet 66 2000 47 68
-
(2000)
Am J Hum Genet
, vol.66
, pp. 47-68
-
-
Peoples, R.1
Franke, Y.2
Wang, Y.K.3
-
89
-
-
0035179436
-
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
-
L.R. Osborne, M. Li, and B. Pober A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome Nat Genet 29 2001 321 325
-
(2001)
Nat Genet
, vol.29
, pp. 321-325
-
-
Osborne, L.R.1
Li, M.2
Pober, B.3
-
90
-
-
21744460430
-
Inversion of the Williams syndrome region occurs in ∼ 7% of the general population and ∼ 25% of transmitting parents of individuals with Williams syndrome
-
C. Morris, H.H. Hobart, and R.G. Gregg Inversion of the Williams syndrome region occurs in ∼ 7% of the general population and ∼ 25% of transmitting parents of individuals with Williams syndrome 10th International Professional Conference on Williams Syndrome, Grand Rapids, MI 2004 (July 25 and 26)
-
(2004)
10th International Professional Conference on Williams Syndrome, Grand Rapids, MI
-
-
Morris, C.1
Hobart, H.H.2
Gregg, R.G.3
-
91
-
-
15844375659
-
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition
-
J.M. Frangiskakis, A.K. Ewart, and C.A. Morris LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition Cell 86 1996 59 69
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.M.1
Ewart, A.K.2
Morris, C.A.3
-
92
-
-
0032999601
-
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
-
A. Botta, G. Novelli, and A. Mari Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes J Med Genet 36 1999 478 480
-
(1999)
J Med Genet
, vol.36
, pp. 478-480
-
-
Botta, A.1
Novelli, G.2
Mari, A.3
-
93
-
-
0033366703
-
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
-
M. Tassabehji, K. Metcalfe, and A. Karmiloff-Smith Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes Am J Hum Genet 64 1999 118 125
-
(1999)
Am J Hum Genet
, vol.64
, pp. 118-125
-
-
Tassabehji, M.1
Metcalfe, K.2
Karmiloff-Smith, A.3
-
94
-
-
0038502072
-
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
-
C. Gagliardi, M.C. Bonaglia, A. Selicorni, R. Borgatti, and R. Giorda Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion J Med Genet 40 2003 526 530
-
(2003)
J Med Genet
, vol.40
, pp. 526-530
-
-
Gagliardi, C.1
Bonaglia, M.C.2
Selicorni, A.3
Borgatti, R.4
Giorda, R.5
-
95
-
-
0141886446
-
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome
-
R. Heller, A. Rauch, S. Luttgen, B. Schroder, and A. Winterpacht Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome J Med Genet 40 2003 e99
-
(2003)
J Med Genet
, vol.40
, pp. 99
-
-
Heller, R.1
Rauch, A.2
Luttgen, S.3
Schroder, B.4
Winterpacht, A.5
-
96
-
-
10744229701
-
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23
-
H. Hirota, R. Matsuoka, and X.N. Chen Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 Genet Med 5 2003 311 321
-
(2003)
Genet Med
, vol.5
, pp. 311-321
-
-
Hirota, H.1
Matsuoka, R.2
Chen, X.N.3
-
97
-
-
10744221593
-
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
-
C.A. Morris, C.B. Mervis, and H.H. Hobart 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 123A 2003 45 59
-
(2003)
Am J Med Genet
, vol.123
, pp. 45-59
-
-
Morris, C.A.1
Mervis, C.B.2
Hobart, H.H.3
-
99
-
-
0032533870
-
Novel arterial pathology in mice and humans hemizygous for elastin
-
D.Y. Li, G. Faury, and D.G. Taylor Novel arterial pathology in mice and humans hemizygous for elastin J Clin Invest 102 1998 1783 1787
-
(1998)
J Clin Invest
, vol.102
, pp. 1783-1787
-
-
Li, D.Y.1
Faury, G.2
Taylor, D.G.3
-
100
-
-
0032554898
-
Elastin is an essential determinant of arterial morphogenesis
-
D.Y. Li, B. Brooke, and E.C. Davis Elastin is an essential determinant of arterial morphogenesis Nature 393 1998 276 280
-
(1998)
Nature
, vol.393
, pp. 276-280
-
-
Li, D.Y.1
Brooke, B.2
Davis, E.C.3
-
101
-
-
18444372636
-
Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice
-
Y. Meng, Y. Zhang, and V. Tregoubov Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice Neuron 35 2002 121 133
-
(2002)
Neuron
, vol.35
, pp. 121-133
-
-
Meng, Y.1
Zhang, Y.2
Tregoubov, V.3
-
102
-
-
0032212802
-
The murine CYLN2 gene: Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region
-
C.C. Hoogenraad, B.H. Eussen, and A. Langeveld The murine CYLN2 gene: genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region Genomics 53 1998 348 358
-
(1998)
Genomics
, vol.53
, pp. 348-358
-
-
Hoogenraad, C.C.1
Eussen, B.H.2
Langeveld, A.3
-
103
-
-
0036724985
-
Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice
-
C.C. Hoogenraad, B. Koekkoek, and A. Akhmanova Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice Nat Genet 32 2002 116 127
-
(2002)
Nat Genet
, vol.32
, pp. 116-127
-
-
Hoogenraad, C.C.1
Koekkoek, B.2
Akhmanova, A.3
-
104
-
-
0035934181
-
Biochemistry and biology of the inducible multifunctional transcription factor TFII-I
-
A.L. Roy Biochemistry and biology of the inducible multifunctional transcription factor TFII-I Gene 274 2001 1 13
-
(2001)
Gene
, vol.274
, pp. 1-13
-
-
Roy, A.L.1
-
105
-
-
0036789944
-
Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta
-
M.I. Tussie-Luna, D. Bayarsaihan, E. Seto, F.H. Ruddle, and A.L. Roy Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta Proc Natl Acad Sci U S A 99 2002 12807 12812
-
(2002)
Proc Natl Acad Sci U S a
, vol.99
, pp. 12807-12812
-
-
Tussie-Luna, M.I.1
Bayarsaihan, D.2
Seto, E.3
Ruddle, F.H.4
Roy, A.L.5
-
106
-
-
0037449784
-
Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I
-
Y.D. Wen, W.D. Cress, A.L. Roy, and E. Seto Histone deacetylase 3 binds to and regulates the multifunctional transcription factor TFII-I J Biol Chem 278 2003 1841 1847
-
(2003)
J Biol Chem
, vol.278
, pp. 1841-1847
-
-
Wen, Y.D.1
Cress, W.D.2
Roy, A.L.3
Seto, E.4
-
107
-
-
0037470142
-
A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes
-
M.A. Hakimi, Y. Dong, W.S. Lane, D.W. Speicher, and R. Shiekhattar A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes J Biol Chem 278 2003 7234 7239
-
(2003)
J Biol Chem
, vol.278
, pp. 7234-7239
-
-
Hakimi, M.A.1
Dong, Y.2
Lane, W.S.3
Speicher, D.W.4
Shiekhattar, R.5
-
108
-
-
0032033164
-
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region
-
Y.K. Wang, L.A. Perez-Jurado, and U. Francke A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region Genomics 48 1998 163 170
-
(1998)
Genomics
, vol.48
, pp. 163-170
-
-
Wang, Y.K.1
Perez-Jurado, L.A.2
Francke, U.3
-
109
-
-
0034691196
-
Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains
-
D. Bayarsaihan, and F.H. Ruddle Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains Proc Natl Acad Sci U S A 97 2000 7342 7347
-
(2000)
Proc Natl Acad Sci U S a
, vol.97
, pp. 7342-7347
-
-
Bayarsaihan, D.1
Ruddle, F.H.2
-
110
-
-
0344603630
-
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome
-
L.R. Osborne, T. Campbell, A. Daradich, S.W. Scherer, and L.C. Tsui Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome Genomics 57 1999 279 284
-
(1999)
Genomics
, vol.57
, pp. 279-284
-
-
Osborne, L.R.1
Campbell, T.2
Daradich, A.3
Scherer, S.W.4
Tsui, L.C.5
-
111
-
-
0034141291
-
Characterization and gene structure of a novel retinoblastoma-protein- associated protein similar to the transcription regulator TFII-I
-
X. Yan, X. Zhao, M. Qian, N. Guo, X. Gong, and X. Zhu Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I Biochem J 345 Pt. 3 2000 749 757
-
(2000)
Biochem J
, vol.345
, Issue.3 PART
, pp. 749-757
-
-
Yan, X.1
Zhao, X.2
Qian, M.3
Guo, N.4
Gong, X.5
Zhu, X.6
-
112
-
-
0031741337
-
Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1
-
J.V. O'Mahoney, K.L. Guven, and J. Lin Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1 Mol Cell Biol 18 1998 6641 6652
-
(1998)
Mol Cell Biol
, vol.18
, pp. 6641-6652
-
-
O'Mahoney, J.V.1
Guven, K.L.2
Lin, J.3
-
113
-
-
0035309316
-
Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome
-
M.E. Durkin, C.L. Keck-Waggoner, N.C. Popescu, and S.S. Thorgeirsson Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome Genomics 73 2001 20 27
-
(2001)
Genomics
, vol.73
, pp. 20-27
-
-
Durkin, M.E.1
Keck-Waggoner, C.L.2
Popescu, N.C.3
Thorgeirsson, S.S.4
-
114
-
-
0035025387
-
Health care supervision for children with Williams syndrome
-
American Academy of Pediatrics Health care supervision for children with Williams syndrome Pediatrics 107 2001 1192 1204
-
(2001)
Pediatrics
, vol.107
, pp. 1192-1204
-
-
Academy Of Pediatrics, A.1
-
115
-
-
0035792996
-
Pathology of the diffuse variant of supravalvar aortic stenosis
-
P. Vaideeswar, V. Shankar, J.R. Deshpande, A. Sivaraman, and N. Jain Pathology of the diffuse variant of supravalvar aortic stenosis Cardiovasc Pathol 10 2001 33 37
-
(2001)
Cardiovasc Pathol
, vol.10
, pp. 33-37
-
-
Vaideeswar, P.1
Shankar, V.2
Deshpande, J.R.3
Sivaraman, A.4
Jain, N.5
-
117
-
-
0035213774
-
Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome
-
U. Giordano, A. Turchetta, A. Giannotti, M.C. Digilio, F. Virgilii, and A. Calzolari Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome Pediatr Cardiol 22 2001 509 511
-
(2001)
Pediatr Cardiol
, vol.22
, pp. 509-511
-
-
Giordano, U.1
Turchetta, A.2
Giannotti, A.3
Digilio, M.C.4
Virgilii, F.5
Calzolari, A.6
-
118
-
-
0032758285
-
Forty-one years of surgical experience with congenital supravalvular aortic stenosis
-
C. Stamm, C. Kreutzer, and D. Zurakowski Forty-one years of surgical experience with congenital supravalvular aortic stenosis J Thorac Cardiovasc Surg 118 1999 874 875
-
(1999)
J Thorac Cardiovasc Surg
, vol.118
, pp. 874-875
-
-
Stamm, C.1
Kreutzer, C.2
Zurakowski, D.3
-
120
-
-
0032753335
-
Function and assembly of nuclear pore complex proteins
-
K. Bodoor, S. Shaikh, and P. Enarson Function and assembly of nuclear pore complex proteins Biochem Cell Biol 77 1999 321 329
-
(1999)
Biochem Cell Biol
, vol.77
, pp. 321-329
-
-
Bodoor, K.1
Shaikh, S.2
Enarson, P.3
-
121
-
-
0038813659
-
Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis
-
M.A. Crackower, N.K. Kolas, and J. Noguchi Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis Science 300 2003 1291 1295
-
(2003)
Science
, vol.300
, pp. 1291-1295
-
-
Crackower, M.A.1
Kolas, N.K.2
Noguchi, J.3
-
122
-
-
0032168133
-
A novel human gene FKBP6 is deleted in Williams syndrome
-
X. Meng, X. Lu, C.A. Morris, and M.T. Keating A novel human gene FKBP6 is deleted in Williams syndrome Genomics 52 1998 130 137
-
(1998)
Genomics
, vol.52
, pp. 130-137
-
-
Meng, X.1
Lu, X.2
Morris, C.A.3
Keating, M.T.4
-
123
-
-
0037382285
-
Analysis of Wnt8 for neural posteriorizing factor by identifying Frizzled 8c and Frizzled 9 as functional receptors for Wnt8
-
A. Momoi, H. Yoda, and H. Steinbeisser Analysis of Wnt8 for neural posteriorizing factor by identifying Frizzled 8c and Frizzled 9 as functional receptors for Wnt8 Mech Dev 120 2003 477 489
-
(2003)
Mech Dev
, vol.120
, pp. 477-489
-
-
Momoi, A.1
Yoda, H.2
Steinbeisser, H.3
-
124
-
-
0037020253
-
Frizzled-9 is activated by Wnt-2 and functions in Wnt/beta-catenin signaling
-
T. Karasawa, H. Yokokura, J. Kitajewski, and P.J. Lombroso Frizzled-9 is activated by Wnt-2 and functions in Wnt/beta-catenin signaling J Biol Chem 277 2002 37479 37486
-
(2002)
J Biol Chem
, vol.277
, pp. 37479-37486
-
-
Karasawa, T.1
Yokokura, H.2
Kitajewski, J.3
Lombroso, P.J.4
-
125
-
-
0031043863
-
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23
-
Y.K. Wang, C.H. Samos, R. Peoples, L.A. Perez-Jurado, R. Nusse, and U. Francke A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23 Hum Mol Genet 6 1997 465 472
-
(1997)
Hum Mol Genet
, vol.6
, pp. 465-472
-
-
Wang, Y.K.1
Samos, C.H.2
Peoples, R.3
Perez-Jurado, L.A.4
Nusse, R.5
Francke, U.6
-
127
-
-
0038046628
-
The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome
-
H. Kitagawa, R. Fujiki, and K. Yoshimura The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome Cell 113 2003 905 917
-
(2003)
Cell
, vol.113
, pp. 905-917
-
-
Kitagawa, H.1
Fujiki, R.2
Yoshimura, K.3
-
128
-
-
0032400961
-
A novel human gene, WSTF, is deleted in Williams syndrome
-
X. Lu, X. Meng, C.A. Morris, and M.T. Keating A novel human gene, WSTF, is deleted in Williams syndrome Genomics 54 1998 241 249
-
(1998)
Genomics
, vol.54
, pp. 241-249
-
-
Lu, X.1
Meng, X.2
Morris, C.A.3
Keating, M.T.4
-
129
-
-
0032408489
-
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23
-
R.J. Peoples, M.J. Cisco, P. Kaplan, and U. Francke Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23 Cytogenet Cell Genet 82 1998 238 246
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 238-246
-
-
Peoples, R.J.1
Cisco, M.J.2
Kaplan, P.3
Francke, U.4
-
130
-
-
0032509326
-
The BCL7 gene family: Deletion of BCL7B in Williams syndrome
-
D.M. Jadayel, L.R. Osborne, and L.J. Coignet The BCL7 gene family: deletion of BCL7B in Williams syndrome Gene 224 1998 35 44
-
(1998)
Gene
, vol.224
, pp. 35-44
-
-
Jadayel, D.M.1
Osborne, L.R.2
Coignet, L.J.3
-
131
-
-
0031764786
-
Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients
-
S. Natter, S. Seiberler, and P. Hufnagl Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients FASEB J 12 1998 1559 1569
-
(1998)
FASEB J
, vol.12
, pp. 1559-1569
-
-
Natter, S.1
Seiberler, S.2
Hufnagl, P.3
-
132
-
-
0345201706
-
TBL2, a novel transducin family member in the WBS deletion: Characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog
-
L.A. Perez Jurado, Y.K. Wang, U. Francke, and J. Cruces TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog Cytogenet Cell Genet 86 1999 277 284
-
(1999)
Cytogenet Cell Genet
, vol.86
, pp. 277-284
-
-
Perez Jurado, L.A.1
Wang, Y.K.2
Francke, U.3
Cruces, J.4
-
133
-
-
0035869117
-
WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network
-
S. Cairo, G. Merla, F. Urbinati, A. Ballabio, and A. Reymond WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network Hum Mol Genet 10 2001 617 627
-
(2001)
Hum Mol Genet
, vol.10
, pp. 617-627
-
-
Cairo, S.1
Merla, G.2
Urbinati, F.3
Ballabio, A.4
Reymond, A.5
-
134
-
-
0032535154
-
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion
-
T. Paperna, R. Peoples, Y.K. Wang, P. Kaplan, and U. Francke Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion Genomics 54 1998 453 459
-
(1998)
Genomics
, vol.54
, pp. 453-459
-
-
Paperna, T.1
Peoples, R.2
Wang, Y.K.3
Kaplan, P.4
Francke, U.5
-
135
-
-
0033582334
-
Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands
-
K. Morita, M. Furuse, K. Fujimoto, and S. Tsukita Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands Proc Natl Acad Sci U S A 96 1999 511 516
-
(1999)
Proc Natl Acad Sci U S a
, vol.96
, pp. 511-516
-
-
Morita, K.1
Furuse, M.2
Fujimoto, K.3
Tsukita, S.4
-
137
-
-
0030249984
-
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
-
L.R. Osborne, D. Martindale, and S.W. Scherer Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients Genomics 36 1996 328 336
-
(1996)
Genomics
, vol.36
, pp. 328-336
-
-
Osborne, L.R.1
Martindale, D.2
Scherer, S.W.3
-
138
-
-
0036008284
-
LIM proteins: Association with the actin cytoskeleton
-
T. Khurana, B. Khurana, and A.A. Noegel LIM proteins: association with the actin cytoskeleton Protoplasma 219 2002 1 12
-
(2002)
Protoplasma
, vol.219
, pp. 1-12
-
-
Khurana, T.1
Khurana, B.2
Noegel, A.A.3
-
139
-
-
0035903136
-
Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F
-
G.W. Rogers Jr., N.J. Richter, W.F. Lima, and W.C. Merrick Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F J Biol Chem 276 2001 30914 30922
-
(2001)
J Biol Chem
, vol.276
, pp. 30914-30922
-
-
Rogers Jr., G.W.1
Richter, N.J.2
Lima, W.F.3
Merrick, W.C.4
-
140
-
-
0037121939
-
Non-T cell activation linker (NTAL): A transmembrane adaptor protein involved in immunoreceptor signaling
-
T. Brdicka, M. Imrich, and P. Angelisova Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling J Exp Med 196 2002 1617 1626
-
(2002)
J Exp Med
, vol.196
, pp. 1617-1626
-
-
Brdicka, T.1
Imrich, M.2
Angelisova, P.3
-
141
-
-
0033813884
-
Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23
-
D.W. Martindale, M.D. Wilson, and D. Wang Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23 Mamm Genome 11 2000 890 898
-
(2000)
Mamm Genome
, vol.11
, pp. 890-898
-
-
Martindale, D.W.1
Wilson, M.D.2
Wang, D.3
-
142
-
-
0029948577
-
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion
-
R. Peoples, L. Perez-Jurado, Y.K. Wang, P. Kaplan, and U. Francke The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion Am J Hum Genet 58 1996 1370 1373
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1370-1373
-
-
Peoples, R.1
Perez-Jurado, L.2
Wang, Y.K.3
Kaplan, P.4
Francke, U.5
-
143
-
-
0031858055
-
The RFC2 gene, encoding the third-largest subunit of the replication factor C complex, is required for an S-phase checkpoint in Saccharomyces cerevisiae
-
V.N. Noskov, H. Araki, and A. Sugino The RFC2 gene, encoding the third-largest subunit of the replication factor C complex, is required for an S-phase checkpoint in Saccharomyces cerevisiae Mol Cell Biol 18 1998 4914 4923
-
(1998)
Mol Cell Biol
, vol.18
, pp. 4914-4923
-
-
Noskov, V.N.1
Araki, H.2
Sugino, A.3
-
144
-
-
0035860728
-
ATP utilization by yeast replication factor C. IV. RFC ATP-binding mutants show defects in DNA replication, DNA repair, and checkpoint regulation
-
S.L. Schmidt, A.L. Pautz, and P.M. Burgers ATP utilization by yeast replication factor C. IV. RFC ATP-binding mutants show defects in DNA replication, DNA repair, and checkpoint regulation J Biol Chem 276 2001 34792 34800
-
(2001)
J Biol Chem
, vol.276
, pp. 34792-34800
-
-
Schmidt, S.L.1
Pautz, A.L.2
Burgers, P.M.3
-
145
-
-
0032695657
-
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23
-
Y. Franke, R.J. Peoples, and U. Francke Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23 Cytogenet Cell Genet 86 1999 296 304
-
(1999)
Cytogenet Cell Genet
, vol.86
, pp. 296-304
-
-
Franke, Y.1
Peoples, R.J.2
Francke, U.3
-
146
-
-
0031886974
-
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
-
L.A. Perez Jurado, Y.K. Wang, R. Peoples, A. Coloma, J. Cruces, and U. Francke A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK Hum Mol Genet 7 1998 325 334
-
(1998)
Hum Mol Genet
, vol.7
, pp. 325-334
-
-
Perez Jurado, L.A.1
Wang, Y.K.2
Peoples, R.3
Coloma, A.4
Cruces, J.5
Francke, U.6
-
147
-
-
0032855702
-
The NADPH-dependent oxidase of phagocytes
-
W.M. Nauseef The NADPH-dependent oxidase of phagocytes Proc Assoc Am Physicians 111 1999 373 382
-
(1999)
Proc Assoc Am Physicians
, vol.111
, pp. 373-382
-
-
Nauseef, W.M.1
-
148
-
-
3342951462
-
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome
-
H.J. Tipney, T.A. Hinsley, A. Brass, K. Metcalfe, D. Donnai, and M. Tassabehji Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome Eur J Hum Genet 2004 [Electronic publication ahead of print]
-
(2004)
Eur J Hum Genet
-
-
Tipney, H.J.1
Hinsley, T.A.2
Brass, A.3
Metcalfe, K.4
Donnai, D.5
Tassabehji, M.6
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