-
1
-
-
0034509987
-
Prader-Willi syndrome: genetic tests and clinical findings
-
Fridman C., Varela M.C., Kok F., Setian N., Koiffmann C.P. Prader-Willi syndrome: genetic tests and clinical findings. Genet Test 2000, 4:387-392.
-
(2000)
Genet Test
, vol.4
, pp. 387-392
-
-
Fridman, C.1
Varela, M.C.2
Kok, F.3
Setian, N.4
Koiffmann, C.P.5
-
2
-
-
0027476242
-
Prader-Willi syndrome: consensus diagnostic criteria
-
Holm V.A., Cassidy S.B., Butler M.G., et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993, 91:398-402.
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Butler, M.G.3
-
3
-
-
57349156874
-
Recommendations for the diagnosis and management of Prader-Willi syndrome
-
Goldstone A.P., Holland A.J., Hauffa B.P., Hokken-Koelega A.C., Tauber M. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008, 93:4183-4197.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 4183-4197
-
-
Goldstone, A.P.1
Holland, A.J.2
Hauffa, B.P.3
Hokken-Koelega, A.C.4
Tauber, M.5
-
4
-
-
4344602920
-
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
-
Vogels A., Van Den Ende J., Keymolen K., et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 2004, 12:238-240.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 238-240
-
-
Vogels, A.1
Van Den Ende, J.2
Keymolen, K.3
-
5
-
-
78649958556
-
Clinical management of behavioral characteristics of Prader-Willi syndrome
-
Ho A.Y., Dimitropoulos A. Clinical management of behavioral characteristics of Prader-Willi syndrome. Neuropsychiatr Dis Treat 2010, 6:107-118.
-
(2010)
Neuropsychiatr Dis Treat
, vol.6
, pp. 107-118
-
-
Ho, A.Y.1
Dimitropoulos, A.2
-
6
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo T., del Gaudio D., German J.R., et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 2008, 40:719-721.
-
(2008)
Nat Genet
, vol.40
, pp. 719-721
-
-
Sahoo, T.1
del Gaudio, D.2
German, J.R.3
-
8
-
-
33645918584
-
A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia
-
Thomson A.K., Glasson E.J., Bittles A.H. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia. J Intellect Disabil Res 2006, 50:69-78.
-
(2006)
J Intellect Disabil Res
, vol.50
, pp. 69-78
-
-
Thomson, A.K.1
Glasson, E.J.2
Bittles, A.H.3
-
9
-
-
0028969404
-
Angelman syndrome: consensus for diagnostic criteria
-
for the Angelman Syndrome Foundation
-
Williams C.A., Angelman H., Clayton-Smith J., et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995, 56:237-238. for the Angelman Syndrome Foundation.
-
(1995)
Am J Med Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Clayton-Smith, J.3
-
10
-
-
15144357226
-
Angelman syndrome: correlations between epilepsy phenotypes and genotypes
-
Minassian B.A., DeLorey T.M., Olsen R.W., et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998, 43:485-493.
-
(1998)
Ann Neurol
, vol.43
, pp. 485-493
-
-
Minassian, B.A.1
DeLorey, T.M.2
Olsen, R.W.3
-
11
-
-
12744274907
-
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients
-
Varela M.C., Kok F., Setian N., Kim C.A., Koiffmann C.P. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet 2005, 67:47-52.
-
(2005)
Clin Genet
, vol.67
, pp. 47-52
-
-
Varela, M.C.1
Kok, F.2
Setian, N.3
Kim, C.A.4
Koiffmann, C.P.5
-
12
-
-
12744277813
-
Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome
-
Wang P.J., Hou J.W., Sue W.C., Lee W.T. Electroclinical characteristics of seizures: comparing Prader-Willi syndrome with Angelman syndrome. Brain Dev 2005, 27:101-107.
-
(2005)
Brain Dev
, vol.27
, pp. 101-107
-
-
Wang, P.J.1
Hou, J.W.2
Sue, W.C.3
Lee, W.T.4
-
13
-
-
67649888504
-
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome
-
Fan Z., Greenwood R., Fisher A., Pendyal S., Powell C.M. Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome. Am J Med Genet A 2009, 149A:1581-1584.
-
(2009)
Am J Med Genet A
, vol.149
, Issue.A
, pp. 1581-1584
-
-
Fan, Z.1
Greenwood, R.2
Fisher, A.3
Pendyal, S.4
Powell, C.M.5
-
14
-
-
0036103117
-
Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study
-
Butler J.V., Whittington J.E., Holland A.J., Boer H., Clarke D., Webb T. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 2002, 44:248-255.
-
(2002)
Dev Med Child Neurol
, vol.44
, pp. 248-255
-
-
Butler, J.V.1
Whittington, J.E.2
Holland, A.J.3
Boer, H.4
Clarke, D.5
Webb, T.6
-
15
-
-
0028120933
-
Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome
-
Williams M.S., Rooney B.L., Williams J., Josephson K., Pauli R. Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. Am J Med Genet 1994, 49:302-307.
-
(1994)
Am J Med Genet
, vol.49
, pp. 302-307
-
-
Williams, M.S.1
Rooney, B.L.2
Williams, J.3
Josephson, K.4
Pauli, R.5
-
16
-
-
0015387610
-
Prader-Willi syndrome. A resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence
-
Hall B.D., Smith D.W. Prader-Willi syndrome. A resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr 1972, 81:286-293.
-
(1972)
J Pediatr
, vol.81
, pp. 286-293
-
-
Hall, B.D.1
Smith, D.W.2
-
17
-
-
0020540604
-
The Prader-Willi syndrome: a study of 40 patients and a review of the literature
-
Bray G.A., Dahms W.T., Swerdloff R.S., Fiser R.H., Atkinson R.L., Carrel R.E. The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore) 1983, 62:59-80.
-
(1983)
Medicine (Baltimore)
, vol.62
, pp. 59-80
-
-
Bray, G.A.1
Dahms, W.T.2
Swerdloff, R.S.3
Fiser, R.H.4
Atkinson, R.L.5
Carrel, R.E.6
-
18
-
-
0032858626
-
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
-
Dykens E.M., Cassidy S.B., King B.H. 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
-
19
-
-
0033977837
-
Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes
-
Roof E., Stone W., MacLean W., Feurer I.D., Thompson T., Butler M.G. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res 2000, 44(Pt. 1):25-30.
-
(2000)
J Intellect Disabil Res
, vol.44
, Issue.PART. 1
, pp. 25-30
-
-
Roof, E.1
Stone, W.2
MacLean, W.3
Feurer, I.D.4
Thompson, T.5
Butler, M.G.6
-
20
-
-
0031015938
-
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
-
Cassidy S.B., Forsythe M., Heeger S., et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997, 68:433-440.
-
(1997)
Am J Med Genet
, vol.68
, pp. 433-440
-
-
Cassidy, S.B.1
Forsythe, M.2
Heeger, S.3
-
21
-
-
0037065539
-
Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy
-
Boer H., Holland A., Whittington J., Butler J., Webb T., Clarke D. Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002, 359:135-136.
-
(2002)
Lancet
, vol.359
, pp. 135-136
-
-
Boer, H.1
Holland, A.2
Whittington, J.3
Butler, J.4
Webb, T.5
Clarke, D.6
-
22
-
-
0036822094
-
A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS
-
Webb T., Whittington J., Clarke D., Boer H., Butler J., Holland A. A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS. Clin Genet 2002, 62:273-281.
-
(2002)
Clin Genet
, vol.62
, pp. 273-281
-
-
Webb, T.1
Whittington, J.2
Clarke, D.3
Boer, H.4
Butler, J.5
Holland, A.6
-
23
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
-
Gunay-Aygun M., Schwartz S., Heeger S., O'Riordan M.A., Cassidy S.B. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001, 108:E92.
-
(2001)
Pediatrics
, vol.108
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.B.5
-
24
-
-
0034779445
-
Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology
-
Blume W.T., Luders H.O., Mizrahi E., Tassinari C., van Emde Boas W., Engel J. Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:1212-1218.
-
(2001)
Epilepsia
, vol.42
, pp. 1212-1218
-
-
Blume, W.T.1
Luders, H.O.2
Mizrahi, E.3
Tassinari, C.4
van Emde Boas, W.5
Engel, J.6
-
25
-
-
0029976413
-
Epileptiform electroencephalographic patterns
-
Westmoreland B.F. Epileptiform electroencephalographic patterns. Mayo Clin Proc 1996, 71:501-511.
-
(1996)
Mayo Clin Proc
, vol.71
, pp. 501-511
-
-
Westmoreland, B.F.1
-
26
-
-
0036728591
-
Role and limitations of routine and ambulatory scalp electroencephalography in diagnosing and managing seizures
-
Worrell G.A., Lagerlund T.D., Buchhalter J.R. Role and limitations of routine and ambulatory scalp electroencephalography in diagnosing and managing seizures. Mayo Clin Proc 2002, 77:991-998.
-
(2002)
Mayo Clin Proc
, vol.77
, pp. 991-998
-
-
Worrell, G.A.1
Lagerlund, T.D.2
Buchhalter, J.R.3
-
28
-
-
19944432839
-
Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy
-
Kumada T., Ito M., Miyajima T., et al. Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev 2005, 27:127-134.
-
(2005)
Brain Dev
, vol.27
, pp. 127-134
-
-
Kumada, T.1
Ito, M.2
Miyajima, T.3
-
29
-
-
49449111926
-
Mechanisms of imprinting of the Prader-Willi/Angelman region
-
Horsthemke B., Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 2008, 146A:2041-2052.
-
(2008)
Am J Med Genet A
, vol.146
, Issue.A
, pp. 2041-2052
-
-
Horsthemke, B.1
Wagstaff, J.2
-
30
-
-
38049057441
-
Prader-Willi syndrome and excessive daytime sleepiness
-
Camfferman D., McEvoy R.D., O'Donoghue F., Lushington K. Prader-Willi syndrome and excessive daytime sleepiness. Sleep Med Rev 2008, 12:65-75.
-
(2008)
Sleep Med Rev
, vol.12
, pp. 65-75
-
-
Camfferman, D.1
McEvoy, R.D.2
O'Donoghue, F.3
Lushington, K.4
-
31
-
-
78649927535
-
Deletion of the CHRNA7 gene in a patient with Prader-Willi syndrome and epilepsy
-
[abstract], P03.174, M
-
Buffet A., Gaston V., Delobel B., et al. Deletion of the CHRNA7 gene in a patient with Prader-Willi syndrome and epilepsy. European Society of Human Genetics Annual Meeting; Vienna May 23-26 2009, [abstract], P03.174.
-
(2009)
European Society of Human Genetics Annual Meeting; Vienna
, pp. 23-26
-
-
Buffet, A.1
Gaston, V.2
Delobel, B.3
-
32
-
-
77949652528
-
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
-
Williams S.R., Mullegama S.V., Rosenfeld J.A., et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet 2010, 18:436-441.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 436-441
-
-
Williams, S.R.1
Mullegama, S.V.2
Rosenfeld, J.A.3
-
33
-
-
14044258486
-
Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?
-
Tercero M.F., Cabrera Lopez J.C., Herrero M.M., Rodriguez-Quinones F. Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?. Am J Med Genet A 2005, 133A:213-215.
-
(2005)
Am J Med Genet A
, vol.133
, Issue.A
, pp. 213-215
-
-
Tercero, M.F.1
Cabrera Lopez, J.C.2
Herrero, M.M.3
Rodriguez-Quinones, F.4
-
34
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndrome deletions
-
Bayes M., Magano L.F., Rivera N., Flores R., Perez Jurado L.A. Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 2003, 73:131-151.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 131-151
-
-
Bayes, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Perez Jurado, L.A.5
-
35
-
-
0031608062
-
Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
-
Mizugishi K., Yamanaka K., Kuwajima K., Kondo I. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 1998, 43:178-181.
-
(1998)
J Hum Genet
, vol.43
, pp. 178-181
-
-
Mizugishi, K.1
Yamanaka, K.2
Kuwajima, K.3
Kondo, I.4
-
36
-
-
0033458057
-
A case of Williams syndrome with a large, visible cytogenetic deletion
-
Wu Y.Q., Nickerson E., Shaffer L.G., Keppler-Noreuil K., Muilenburg A. A case of Williams syndrome with a large, visible cytogenetic deletion. J Med Genet 1999, 36:928-932.
-
(1999)
J Med Genet
, vol.36
, pp. 928-932
-
-
Wu, Y.Q.1
Nickerson, E.2
Shaffer, L.G.3
Keppler-Noreuil, K.4
Muilenburg, A.5
-
37
-
-
46349099218
-
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
-
Marshall C.R., Young E.J., Pani A.M., et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 2008, 83:106-111.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 106-111
-
-
Marshall, C.R.1
Young, E.J.2
Pani, A.M.3
|