-
1
-
-
0024371764
-
Hypopigmentation: A common feature of Prader-Labhart-Willi syndrome
-
1:STN:280:DyaL1MzgtVOqsg%3D%3D 1683374 2741944
-
Butler MG (1989) Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet 45:140-146
-
(1989)
Am J Hum Genet
, vol.45
, pp. 140-146
-
-
Butler, M.G.1
-
2
-
-
0030726998
-
Prader-Willi syndrome
-
1:STN:280:DyaK1c%2Fltlektg%3D%3D 9391886 10.1136/jmg.34.11.917
-
Cassidy SB (1997) Prader-Willi syndrome. J Med Genet 34:917-923
-
(1997)
J Med Genet
, vol.34
, pp. 917-923
-
-
Cassidy, S.B.1
-
3
-
-
57649228925
-
Prader-Willi syndrome
-
10.1038/ejhg 1:CAS:528:DC%2BD1cXhsVylsLrJ 18781185 10.1038/ejhg.2008.165
-
Cassidy SB, Driscoll DJ (2009) Prader-Willi syndrome. Eur J Hum Genet 17:3-13. doi: 10.1038/ejhg
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 3-13
-
-
Cassidy, S.B.1
Driscoll, D.J.2
-
4
-
-
0031015938
-
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
-
1:STN:280:DyaK2s7ntlWnuw%3D%3D 9021017 10.1002/(SICI)1096-8628(19970211) 68:4<433: AID-AJMG12>3.0.CO;2-T
-
Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S (1997) Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 68:433-440
-
(1997)
Am J Med Genet
, vol.68
, pp. 433-440
-
-
Cassidy, S.B.1
Forsythe, M.2
Heeger, S.3
Nicholls, R.D.4
Schork, N.5
Benn, P.6
Schwartz, S.7
-
5
-
-
85027953062
-
Prader-Willi syndrome
-
10.1038/gim.0b013e31822bead0 1:CAS:528:DC%2BC38Xjt1ahs78%3D 22237428 10.1038/gim.0b013e31822bead0
-
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14:10-26. doi: 10.1038/gim.0b013e31822bead0
-
(2012)
Genet Med
, vol.14
, pp. 10-26
-
-
Cassidy, S.B.1
Schwartz, S.2
Miller, J.L.3
Driscoll, D.J.4
-
6
-
-
34548678450
-
Development of a WHO growth reference for school-aged children and adolescents
-
2636412 18026621 10.2471/BLT.07.043497
-
de Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J (2007) Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ 85:660-667
-
(2007)
Bull World Health Organ
, vol.85
, pp. 660-667
-
-
De Onis, M.1
Onyango, A.W.2
Borghi, E.3
Siyam, A.4
Nishida, C.5
Siekmann, J.6
-
7
-
-
0028786087
-
Frequency of the Prader-Willi syndrome in the San-in district, Japan
-
1:STN:280:DyaK287is1Kksw%3D%3D 8579217 10.1016/0387-7604(95)00060-O
-
Ehara H, Ohno K, Takeshita K (1995) Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain Dev 17:324-326
-
(1995)
Brain Dev
, vol.17
, pp. 324-326
-
-
Ehara, H.1
Ohno, K.2
Takeshita, K.3
-
8
-
-
0028892266
-
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
-
1:STN:280:DyaK287gtFyrtA%3D%3D 8522319 10.1007/BF00210291
-
Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B (1995) Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet 96:638-643
-
(1995)
Hum Genet
, vol.96
, pp. 638-643
-
-
Gillessen-Kaesbach, G.1
Robinson, W.2
Lohmann, D.3
Kaya-Westerloh, S.4
Passarge, E.5
Horsthemke, B.6
-
9
-
-
0030924840
-
Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
-
1:STN:280:DyaK2szlvVKrsA%3D%3D 9215778 10.1002/(SICI)1096-8628(19970711) 71:1<106: AID-AJMG19>3.0.CO;2-Q
-
Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB (1997) Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet 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
-
10
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
-
1:STN:280:DC%2BD3MnkslGksw%3D%3D 11694676 10.1542/peds.108.5.e92
-
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB (2001) The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 108:E92
-
(2001)
Pediatrics
, vol.108
, pp. 92
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.B.5
-
12
-
-
0026341657
-
Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients
-
1:STN:280:DyaK38%2FlvFWktg%3D%3D 1683159 10.1002/ajmg.1320410116
-
Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N (1991) Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet 41:54-63
-
(1991)
Am J Med Genet
, vol.41
, pp. 54-63
-
-
Hamabe, J.1
Fukushima, Y.2
Harada, N.3
Abe, K.4
Matsuo, N.5
Nagai, T.6
Yoshioka, A.7
Tonoki, H.8
Tsukino, R.9
Niikawa, N.10
-
13
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
1:STN:280:DyaK3s7ktFejsA%3D%3D 8424017
-
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91:398-402
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Butler, M.G.3
Hanchett, J.M.4
Greenswag, L.R.5
Whitman, B.Y.6
Greenberg, F.7
-
14
-
-
0030159846
-
Prader-Willi syndrome: Clinical and molecular cytogenetic investigations
-
1:STN:280:DyaK28zmsl2nsw%3D%3D 8772055
-
Hou JW, Wang TR (1996) Prader-Willi syndrome: clinical and molecular cytogenetic investigations. J Formos Med Assoc 95:474-947
-
(1996)
J Formos Med Assoc
, vol.95
, pp. 474-947
-
-
Hou, J.W.1
Wang, T.R.2
-
15
-
-
79955531303
-
Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
-
10.3345/kjp 1:CAS:528:DC%2BC3MXms1Grurk%3D 3077502 21503198 10.3345/kjp.2011.54.2.55
-
Jin DK (2011) Systematic review of the clinical and genetic aspects of Prader-Willi syndrome. Korean J Pediatr 54:55-63. doi: 10.3345/kjp
-
(2011)
Korean J Pediatr
, vol.54
, pp. 55-63
-
-
Jin, D.K.1
-
16
-
-
4844223626
-
Genetic basis of Prader-Willi syndrome in Korea: Less uniparental disomy than has been recognized?
-
15355442 10.1111/j.1399-0004.2004.00323.x
-
Kim HJ, Cho HJ, Jin DK, Kwon EK, Ki CS, Kim JW, Kim SH (2004) Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized? Clin Genet 66:368-372
-
(2004)
Clin Genet
, vol.66
, pp. 368-372
-
-
Kim, H.J.1
Cho, H.J.2
Jin, D.K.3
Kwon, E.K.4
Ki, C.S.5
Kim, J.W.6
Kim, S.H.7
-
17
-
-
70349555987
-
2000 CDC Growth charts for the United States: Methods and development
-
Kuczmarski RJ, Ogden CL, Guo SS, Grummer-Strawn LM, Flegal KM, Mei Z, Wei R, Curtin LR, Roche AF, Johnson CL (2002) 2000 CDC Growth charts for the United States: methods and development. Vital Health Stat 11(246):1-190
-
(2002)
Vital Health Stat
, vol.11
, Issue.246
, pp. 1-190
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Guo, S.S.3
Grummer-Strawn, L.M.4
Flegal, K.M.5
Mei, Z.6
Wei, R.7
Curtin, L.R.8
Roche, A.F.9
Johnson, C.L.10
-
18
-
-
77956149752
-
Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years
-
19951507
-
Li H, Ji CY, Zong XN, Zhang YQ (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Zhonghua Er Ke Za Zhi 47:487-492
-
(2009)
Zhonghua Er Ke Za Zhi
, vol.47
, pp. 487-492
-
-
Li, H.1
Ji, C.Y.2
Zong, X.N.3
Zhang, Y.Q.4
-
19
-
-
34249779261
-
Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan
-
17537021 10.1111/j.1651-2227.2007.00284.x
-
Lin HY, Lin SP, Chuang CK, Chen MR, Yen JL, Lee YJ, Huang CY, Tsai LP, Niu DM, Chao MC, Kuo PL (2007) Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan. Acta Paediatr 96:902-905
-
(2007)
Acta Paediatr
, vol.96
, pp. 902-905
-
-
Lin, H.Y.1
Lin, S.P.2
Chuang, C.K.3
Chen, M.R.4
Yen, J.L.5
Lee, Y.J.6
Huang, C.Y.7
Tsai, L.P.8
Niu, D.M.9
Chao, M.C.10
Kuo, P.L.11
-
20
-
-
34249056137
-
Prader-Willi syndrome in Taiwan
-
17532839 10.1111/j.1442-200X.2007.02368.x
-
Lin HY, Lin SP, Yen JL, Lee YJ, Huang CY, Hung HY, Hsu CH, Kao HA, Chang JH, Chiu NC, Ho CS, Chao MC, Niu DM, Tsai LP, Kuo PL (2007) Prader-Willi syndrome in Taiwan. Pediatr Int 49:375-379
-
(2007)
Pediatr Int
, vol.49
, pp. 375-379
-
-
Lin, H.Y.1
Lin, S.P.2
Yen, J.L.3
Lee, Y.J.4
Huang, C.Y.5
Hung, H.Y.6
Hsu, C.H.7
Kao, H.A.8
Chang, J.H.9
Chiu, N.C.10
Ho, C.S.11
Chao, M.C.12
Niu, D.M.13
Tsai, L.P.14
Kuo, P.L.15
-
21
-
-
0026647855
-
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis
-
1:STN:280:DyaK383mtFKrsg%3D%3D 1584261 10.1056/NEJM199206113262404
-
Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD (1992) The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med 326:1599-1607
-
(1992)
N Engl J Med
, vol.326
, pp. 1599-1607
-
-
Mascari, M.J.1
Gottlieb, W.2
Rogan, P.K.3
Butler, M.G.4
Waller, D.A.5
Armour, J.A.6
Jeffreys, A.J.7
Ladda, R.L.8
Nicholls, R.D.9
-
22
-
-
0032988452
-
The neonatal presentation of Prader-Willi syndrome revisited
-
1:STN:280:DyaK1M7jt1eltg%3D%3D 9931534 10.1016/S0022-3476(99)70420-8
-
Miller SP, Riley P, Shevell MI (1999) The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr 134:226-228
-
(1999)
J Pediatr
, vol.134
, pp. 226-228
-
-
Miller, S.P.1
Riley, P.2
Shevell, M.I.3
-
23
-
-
0029907547
-
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
-
1:STN:280:DyaK2s%2FmvVarsA%3D%3D 8911605 10.1002/(SICI)1096- 8628(19961016)65:2<133: AID-AJMG10>3.0.CO;2-R
-
Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP (1996) Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 65:133-136
-
(1996)
Am J Med Genet
, vol.65
, pp. 133-136
-
-
Mitchell, J.1
Schinzel, A.2
Langlois, S.3
Gillessen-Kaesbach, G.4
Schuffenhauer, S.5
Michaelis, R.6
Abeliovich, D.7
Lerer, I.8
Christian, S.9
Guitart, M.10
McFadden, D.E.11
Robinson, W.P.12
-
24
-
-
33744804330
-
The neonatal phenotype of Prader-Willi syndrome
-
16642508 10.1002/ajmg.a.31223
-
Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Mägi ML, Tasa G, Bartsch O, Talvik T, Ounap K (2006) The neonatal phenotype of Prader-Willi syndrome. Am J Med Genet A 140:1241-1244
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1241-1244
-
-
Oiglane-Shlik, E.1
Zordania, R.2
Varendi, H.3
Antson, A.4
Mägi, M.L.5
Tasa, G.6
Bartsch, O.7
Talvik, T.8
Ounap, K.9
-
25
-
-
0000927260
-
Ein syndrom von Adipositas, Kleinwuchs, Kryptorchismus, und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter
-
Prader A, Labhart A, Willi H (1956) Ein syndrom von Adipositas, Kleinwuchs, Kryptorchismus, und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 86:1260-1261
-
(1956)
Schweiz Med Wochenschr
, vol.86
, pp. 1260-1261
-
-
Prader, A.1
Labhart, A.2
Willi, H.3
-
26
-
-
77951964762
-
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
-
10.1186/1471-2350-11-70 2877670 20459762 10.1186/1471-2350-11-70
-
Ramsden SC, Clayton-Smith J, Birch R, Buiting K (2010) Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet 11:70. doi: 10.1186/1471-2350-11-70
-
(2010)
BMC Med Genet
, vol.11
, pp. 70
-
-
Ramsden, S.C.1
Clayton-Smith, J.2
Birch, R.3
Buiting, K.4
-
27
-
-
0036656728
-
Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction
-
1:CAS:528:DC%2BD38XnvVCqtb8%3D 12353341
-
Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL (2002) Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction. J Formos Med Assoc 101:488-494
-
(2002)
J Formos Med Assoc
, vol.101
, pp. 488-494
-
-
Teng, Y.N.1
Tsai, W.H.2
Wu, C.J.3
Lin, S.J.4
Chen, Y.J.5
Kuo, P.L.6
-
28
-
-
33845515071
-
Changing rates of genetic subtypes of Prader-Willi syndrome in the UK
-
1:CAS:528:DC%2BD28XhtlSqtbbP 16957680 10.1038/sj.ejhg.5201716
-
Whittington JE, Butler JV, Holland AJ (2007) Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur J Hum Genet 15:127-130
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 127-130
-
-
Whittington, J.E.1
Butler, J.V.2
Holland, A.J.3
-
29
-
-
33747086270
-
WHO child growth standards based on length/height, weight, and age
-
WHO Multicentre Growth Reference Study Group
-
WHO Multicentre Growth Reference Study Group (2006) WHO child growth standards based on length/height, weight, and age. Acta Paediatr Suppl 450:76-85
-
(2006)
Acta Paediatr Suppl
, vol.450
, pp. 76-85
-
-
-
30
-
-
0023278194
-
Hypopigmentation in the Prader-Willi syndrome
-
1:STN:280:DyaL2s3htVWmsg%3D%3D 1684150 3578281
-
Wiesner GL, Bendel CM, Olds DP, White JG, Arthur DC, Ball DW, King RA (1987) Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet 40:431-442
-
(1987)
Am J Hum Genet
, vol.40
, pp. 431-442
-
-
Wiesner, G.L.1
Bendel, C.M.2
Olds, D.P.3
White, J.G.4
Arthur, D.C.5
Ball, D.W.6
King, R.A.7
|