-
2
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
R.D. Nicholls, J.L. Knepper Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes Annu Rev Genomics Hum Genet 2 2001 153 175
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
3
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
T. Kishino, M. Lalande, J. Wagstaff UBE3A/E6-AP mutations cause Angelman syndrome Nat Genet 15 1997 70 73
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
4
-
-
0032987223
-
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
-
A. Moncla, P. Malzac, M.-A. Voelckel Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients Eur J Hum Genet 7 1999 131 139
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 131-139
-
-
Moncla, A.1
Malzac, P.2
Voelckel, M.-A.3
-
8
-
-
0034945669
-
Angelman syndrome: Evolution of the phenotype in adolescents and adults
-
J. Clayton-Smith Angelman syndrome Evolution of the phenotype in adolescents and adults Dev Med Child Neurol 43 2001 476 480
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 476-480
-
-
Clayton-Smith, J.1
-
9
-
-
0031004012
-
Manifestations in institutionalised adults with Angelman syndrome due to deletion
-
T. Sandanam, H. Beange, L. Robson, H. Woolnough, T. Buchholz, A. Smith Manifestations in institutionalised adults with Angelman syndrome due to deletion Am J Med Genet 70 1997 415 420
-
(1997)
Am J Med Genet
, vol.70
, pp. 415-420
-
-
Sandanam, T.1
Beange, H.2
Robson, L.3
Woolnough, H.4
Buchholz, T.5
Smith, A.6
-
11
-
-
0031002526
-
Peculiar body composition in patients with Prader-Labhart-Willi syndrome
-
P. Brambilla, L. Bosio, P. Manzoni, A. Pietrobelli, L. Beccaria, G. Chiumello Peculiar body composition in patients with Prader-Labhart-Willi syndrome Am J Clin Nutr 65 1997 1369 1374
-
(1997)
Am J Clin Nutr
, vol.65
, pp. 1369-1374
-
-
Brambilla, P.1
Bosio, L.2
Manzoni, P.3
Pietrobelli, A.4
Beccaria, L.5
Chiumello, G.6
-
12
-
-
0035197388
-
Body composition in Prader-Willi syndrome compared with nonsyndromal obesity: Relationship to physical activity and growth hormone function
-
E.G.A.H. van Mil, K.R. Westerterp, W.-J.M. Gerver, W.D. Van Marken Lichtenbelt, A.D.M. Kester, W.H.M. Saris Body composition in Prader-Willi syndrome compared with nonsyndromal obesity Relationship to physical activity and growth hormone function J Pediatr 139 2001 708 714
-
(2001)
J Pediatr
, vol.139
, pp. 708-714
-
-
Van Mil, E.G.A.H.1
Westerterp, K.R.2
Gerver, W.-J.M.3
Van Marken Lichtenbelt, W.D.4
Kester, A.D.M.5
Saris, W.H.M.6
-
15
-
-
0026329191
-
Hand and foot length in Prader-Willi syndrome
-
L. Hudgins, S.B. Cassidy Hand and foot length in Prader-Willi syndrome Am J Med Genet 41 1991 5 9
-
(1991)
Am J Med Genet
, vol.41
, pp. 5-9
-
-
Hudgins, L.1
Cassidy, S.B.2
-
16
-
-
0027474136
-
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
-
J. Clayton-Smith Clinical research on Angelman syndrome in the United Kingdom Observations on 82 affected individuals Am J Med Gen 46 1993 12 15
-
(1993)
Am J Med Gen
, vol.46
, pp. 12-15
-
-
Clayton-Smith, J.1
-
17
-
-
0035716524
-
Ubiquitin-mediated degradation of cellular proteins: Why destruction is essential for construction, and how it got from the test tube to the patient's bed
-
A. Ciechanover Ubiquitin-mediated degradation of cellular proteins Why destruction is essential for construction, and how it got from the test tube to the patient's bed IMAJ 3 2001 319 327
-
(2001)
IMAJ
, vol.3
, pp. 319-327
-
-
Ciechanover, A.1
-
18
-
-
0032907106
-
The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily
-
Z. Nawaz, D.M. Lonard, C.L. Smith The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily Mol Cell Biol 19 1999 1182 1189
-
(1999)
Mol Cell Biol
, vol.19
, pp. 1182-1189
-
-
Nawaz, Z.1
Lonard, D.M.2
Smith, C.L.3
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