-
1
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990;35:319-332
-
(1990)
Am J Med Genet
, vol.35
, pp. 319-332
-
-
Butler, M.G.1
-
2
-
-
0033852316
-
Prader-Willi syndrome: Clinical and genetic findings
-
Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist 2000;10:3S-16S
-
(2000)
Endocrinologist
, vol.10
-
-
Butler, M.G.1
Thompson, T.2
-
3
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genom Hum Genet. 2001;2:153-175
-
(2001)
Annu Rev Genom Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
4
-
-
0030726998
-
Prader-Willi syndrome
-
Cassidy SB. Prader-Willi syndrome. J Med Genet. 1997;34:917-923
-
(1997)
J Med Genet
, vol.34
, pp. 917-923
-
-
Cassidy, S.B.1
-
5
-
-
23544471126
-
Break point junction fragments in Prader-Willi and Angelman syndrome (PWS/AS) deletion patients reveal variable breakpoints within large duplicons
-
Mewborn SK, Milley NL, Fantes JA, et al. Break point junction fragments in Prader-Willi and Angelman syndrome (PWS/AS) deletion patients reveal variable breakpoints within large duplicons. Am J Hum Genet. 2002;71:A298
-
(2002)
Am J Hum Genet
, vol.71
-
-
Mewborn, S.K.1
Milley, N.L.2
Fantes, J.A.3
-
6
-
-
0035136724
-
Molecular characterization of four cases of intrachromosomal triplication of chromosome 15q11-q14
-
Ungaro P, Christian SL, Fantes JA, et al. Molecular characterization of four cases of intrachromosomal triplication of chromosome 15q11-q14. Am J Med Genet. 2001;38:26-34
-
(2001)
Am J Med Genet
, vol.38
, pp. 26-34
-
-
Ungaro, P.1
Christian, S.L.2
Fantes, J.A.3
-
7
-
-
0042776150
-
Evolutionary transposition of 4 unique genes mediated by flanking duplicons in the Prader-Willi/Angelman syndromes deletion region
-
Chai JH, Locke DP, Eichler EE, Nicholls RD. Evolutionary transposition of 4 unique genes mediated by flanking duplicons in the Prader-Willi/Angelman syndromes deletion region. Am J Hum Genet. 2002;71:A395
-
(2002)
Am J Hum Genet
, vol.71
-
-
Chai, J.H.1
Locke, D.P.2
Eichler, E.E.3
Nicholls, R.D.4
-
8
-
-
0024371764
-
Hypopigmentation: A common feature of Prader-Labhart-Willi syndrome
-
Butler MG. Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet. 1989;45:140-146
-
(1989)
Am J Hum Genet
, vol.45
, pp. 140-146
-
-
Butler, M.G.1
-
9
-
-
0033977837
-
Intellectual characteristics of Prader-Willi syndrome: Comparison of genetic subtypes
-
Roof E, Stone W, MacLean W, Feurer ID, Thompson T, Butler MG. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000;44:25-30
-
(2000)
J Intellect Disabil Res
, vol.44
, pp. 25-30
-
-
Roof, E.1
Stone, W.2
MacLean, W.3
Feurer, I.D.4
Thompson, T.5
Butler, M.G.6
-
10
-
-
0029587002
-
Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome
-
Dykens EM, Cassidy SB. Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am J Med Genet. 1995;60:546-549
-
(1995)
Am J Med Genet
, vol.60
, pp. 546-549
-
-
Dykens, E.M.1
Cassidy, S.B.2
-
11
-
-
0029907547
-
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex differences
-
Mitchell J, Schinzel A, Langlois S, et al. Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex differences. Am J Med Genet. 1996;65:133-136
-
(1996)
Am J Med Genet
, vol.65
, pp. 133-136
-
-
Mitchell, J.1
Schinzel, A.2
Langlois, S.3
-
12
-
-
0032858626
-
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
-
Dykens EM, Cassidy SB, King BH. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard. 1999;104:67-77
-
(1999)
Am J Ment Retard
, vol.104
, pp. 67-77
-
-
Dykens, E.M.1
Cassidy, S.B.2
King, B.H.3
-
13
-
-
0042242603
-
Are jigsaw puzzle skills "spared' in persons with Prader-Willi syndrome?
-
Dykens EM. Are jigsaw puzzle skills "spared' in persons with Prader-Willi syndrome? J Child Psychol Psychiatry. 2002;43:343-352
-
(2002)
J Child Psychol Psychiatry
, vol.43
, pp. 343-352
-
-
Dykens, E.M.1
-
14
-
-
0032769422
-
Self-injurious behavior and Prader-Willi syndrome: Behavioral forms and body locations
-
Symons FJ, Butler MG, Sanders MD, Feurer ID, Thompson T. Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Med Genet. 1999;104:260-269
-
(1999)
Am J Med Genet
, vol.104
, pp. 260-269
-
-
Symons, F.J.1
Butler, M.G.2
Sanders, M.D.3
Feurer, I.D.4
Thompson, T.5
-
15
-
-
0034902186
-
Kinetic form discrimination in Prader-Willi syndrome
-
Fox R, Yang GS, Feurer ID, Butler MG, Thompson T. Kinetic form discrimination in Prader-Willi syndrome. J Intellect Disabil Res. 2001;45:317-325
-
(2001)
J Intellect Disabil Res
, vol.45
, pp. 317-325
-
-
Fox, R.1
Yang, G.S.2
Feurer, I.D.3
Butler, M.G.4
Thompson, T.5
-
16
-
-
0030924840
-
Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
-
Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet. 1997;71:106-110
-
(1997)
Am J Med Genet
, vol.71
, pp. 106-110
-
-
Gunay-Aygun, M.1
Heeger, S.2
Schwartz, S.3
Cassidy, S.B.4
-
17
-
-
0027473988
-
Multiple PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura A, Greenberg F, Butler MG, et al. Multiple PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 1993;2:143-151
-
(1993)
Hum Mol Genet
, vol.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
-
18
-
-
0030579609
-
Molecular diagnosis of Prader-Willi syndrome: Comparison of cytogenetics and molecular genetic data including parent of origin dependent methylation DNA patterns
-
Butler MG. Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetics and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Med Genet. 1996;61:188-190
-
(1996)
Am J Med Genet
, vol.61
, pp. 188-190
-
-
Butler, M.G.1
-
19
-
-
0031726365
-
Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome and control subjects
-
Muralidhar B, Butler MG. Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome and control subjects. Am J Med Genet. 1998;80:263-265
-
(1998)
Am J Med Genet
, vol.80
, pp. 263-265
-
-
Muralidhar, B.1
Butler, M.G.2
-
20
-
-
1442314973
-
Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region
-
Butler MG, Bittel D, Talebizadeh Z. Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region. J Med Genet. 2002;107:69-70
-
(2002)
J Med Genet
, vol.107
, pp. 69-70
-
-
Butler, M.G.1
Bittel, D.2
Talebizadeh, Z.3
-
22
-
-
0028010967
-
A survey of the phenomenology and pharmacotherapy of compulsive and impulsive-aggressive symptoms in Prader-Willi syndrome
-
Stein DJ, Keating J, Zar HJ, Hollander E. A survey of the phenomenology and pharmacotherapy of compulsive and impulsive-aggressive symptoms in Prader-Willi syndrome. J Neuropsychiatr Clin Neurosci. 1994;6:23-29
-
(1994)
J Neuropsychiatr Clin Neurosci
, vol.6
, pp. 23-29
-
-
Stein, D.J.1
Keating, J.2
Zar, H.J.3
Hollander, E.4
-
24
-
-
0002146473
-
Recognizing obsessive-compulsive disorder in clients with developmental disabilities
-
Gedye A. Recognizing obsessive-compulsive disorder in clients with developmental disabilities. Habil Ment Healthcare Newslett. 1992;11:73-77
-
(1992)
Habil Ment Healthcare Newslett
, vol.11
, pp. 73-77
-
-
Gedye, A.1
-
31
-
-
0022462350
-
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
-
Butler MG, Meaney FJ, Palmer CG. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1986;23:793-809
-
(1986)
Am J Med Genet
, vol.23
, pp. 793-809
-
-
Butler, M.G.1
Meaney, F.J.2
Palmer, C.G.3
-
32
-
-
0025173833
-
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
-
Magenis RE, Toth-Fejel S, Allen LJ, et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet. 1990;35:333-349
-
(1990)
Am J Med Genet
, vol.35
, pp. 333-349
-
-
Magenis, R.E.1
Toth-Fejel, S.2
Allen, L.J.3
-
33
-
-
0025049410
-
Parental origin of del (15) (q11-q13) in Angelman and Prader-Willi syndromes
-
Zori R, Williams C, Mattei JF, Moncla A. Parental origin of del (15) (q11-q13) in Angelman and Prader-Willi syndromes. Am J Med Genet. 1990;37:294-295
-
(1990)
Am J Med Genet
, vol.37
, pp. 294-295
-
-
Zori, R.1
Williams, C.2
Mattei, J.F.3
Moncla, A.4
-
34
-
-
0026353331
-
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
-
Robinson WP, Bottani A, Yagang X, et al. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet. 1991;49:1219-1234
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
Bottani, A.2
Yagang, X.3
-
35
-
-
0032466270
-
The latent variable structure of the Compulsive Behavior Checklist in people with Prader-Willi syndrome
-
Feurer ID, Dimitropoulos A, Stone WL, Roof E, Butler MG, Thompson T. The latent variable structure of the Compulsive Behavior Checklist in people with Prader-Willi syndrome. J Intellect Disabil Res. 1998;42(suppl):472-480
-
(1998)
J Intellect Disabil Res
, vol.42
, Issue.SUPPL.
, pp. 472-480
-
-
Feurer, I.D.1
Dimitropoulos, A.2
Stone, W.L.3
Roof, E.4
Butler, M.G.5
Thompson, T.6
-
36
-
-
0035825226
-
Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome
-
Joseph B, Egli M, Sutcliffe JS, Thompson T. Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome. Am J Med Genet. 2001;105:71-75
-
(2001)
Am J Med Genet
, vol.105
, pp. 71-75
-
-
Joseph, B.1
Egli, M.2
Sutcliffe, J.S.3
Thompson, T.4
-
37
-
-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
Albrecht U, Sutcliffe JS, Cattanach BM, et al. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet. 1997;17:75-78
-
(1997)
Nat Genet
, vol.17
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
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