-
1
-
-
27744530753
-
Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome [J]
-
Cortés MF, Alliende RMA, Barrios RA, Curotto LB, Santa María VL, Barraza OX, et al. Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome [J]. Rev Med Chil, 2005, 133 (1): 33-41.
-
(2005)
Rev Med Chil
, vol.133
, Issue.1
, pp. 33-41
-
-
Cortés, M.F.1
Alliende, R.M.A.2
Barrios, R.A.3
Curotto, L.B.4
Santa María, V.L.5
Barraza, O.X.6
-
2
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J]
-
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J]. Pediatrics, 2001, 108 (5): E92.
-
(2001)
Pediatrics
, vol.108
, Issue.5
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.B.5
-
3
-
-
41049091716
-
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region[J]
-
Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, et al. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region[J]. BMC Genomics, 2008, 9: 50.
-
(2008)
BMC Genomics
, vol.9
, pp. 50
-
-
Jiang, Y.H.1
Wauki, K.2
Liu, Q.3
Bressler, J.4
Pan, Y.5
Kashork, C.D.6
-
4
-
-
50249182092
-
Scoliosis in Prader-Willi syndrome: Prevalence, effects of age, gender, body mass index, lean body mass and genotype [J]
-
Feb 8, Epub ahead of print
-
de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Hokken-Koelega AC. Scoliosis in Prader-Willi syndrome: Prevalence, effects of age, gender, body mass index, lean body mass and genotype [J]. Arch Dis Child, 2008 Feb 8. [Epub ahead of print]
-
(2008)
Arch Dis Child
-
-
de Lind van Wijngaarden, R.F.1
de Klerk, L.W.2
Festen, D.A.3
Hokken-Koelega, A.C.4
-
5
-
-
0032076307
-
Imprinting in Prader-Willi and Angelman syndrome [J]
-
Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndrome [J]. Trends Genet, 1998, 14(5): 194-200.
-
(1998)
Trends Genet
, vol.14
, Issue.5
, pp. 194-200
-
-
Nicholls, R.D.1
Saitoh, S.2
Horsthemke, B.3
-
6
-
-
0034431527
-
Genomic imprinting: Genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes [J]
-
Fridman C, Koiffmann CP. Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes [J]. Genet Mol Biol, 2000, 23(4): 715-724.
-
(2000)
Genet Mol Biol
, vol.23
, Issue.4
, pp. 715-724
-
-
Fridman, C.1
Koiffmann, C.P.2
-
7
-
-
43249083126
-
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome [J]
-
de Lind van Wijngaarde RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, et al. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome [J]. J Clin Endocrinol Metab, 2008, 93 (5): 1649-1654.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, Issue.5
, pp. 1649-1654
-
-
de Lind van Wijngaarde, R.F.1
Otten, B.J.2
Festen, D.A.3
Joosten, K.F.4
de Jong, F.H.5
Sweep, F.C.6
-
8
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria [J]
-
Holm VA, Cassidy SB, Butler MG, Hanchelt JM, Greenswag LR, Whitman BY, et al. Prader-Willi syndrome: consensus diagnostic criteria [J]. Pediatrics, 1993, 91(2): 398-402.
-
(1993)
Pediatrics
, vol.91
, Issue.2
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Butler, M.G.3
Hanchelt, J.M.4
Greenswag, L.R.5
Whitman, B.Y.6
-
9
-
-
50249178055
-
-
Keder L, Butler MG. The genetics of Prader-Willi syndrome: an explanation for the rest of Us, March-May 2000 [DB/0L]. Revised and updated in July 2004. [2005]. http://www.pwsausa.org/syndrome/ Geneties_of_PWS.htm.
-
Keder L, Butler MG. The genetics of Prader-Willi syndrome: an explanation for the rest of Us, March-May 2000 [DB/0L]. Revised and updated in July 2004. [2005]. http://www.pwsausa.org/syndrome/ Geneties_of_PWS.htm.
-
-
-
-
10
-
-
0031133081
-
Methylation-specific PCR simplifies imprinting analysis [J]
-
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis [J]. Nat Genet, 1997, 16(1): 16-17.
-
(1997)
Nat Genet
, vol.16
, Issue.1
, pp. 16-17
-
-
Kubota, T.1
Das, S.2
Christian, S.L.3
Baylin, S.B.4
Herman, J.G.5
Ledbetter, D.H.6
-
11
-
-
0030665282
-
Prader-Willi and Angelman syndrome: Diagnosis with a bisulfite-treated methylation-specific PCR method [J]
-
Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation-specific PCR method [J]. Am J Med Genet, 1997, 73 (3): 308-313.
-
(1997)
Am J Med Genet
, vol.73
, Issue.3
, pp. 308-313
-
-
Kosaki, K.1
McGinniss, M.J.2
Veraksa, A.N.3
McGinnis, W.J.4
Jones, K.L.5
-
12
-
-
0034033229
-
DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting [J]
-
Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, et al. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting [J]. Prenat Diagn, 2000, 20(4): 300-306.
-
(2000)
Prenat Diagn
, vol.20
, Issue.4
, pp. 300-306
-
-
Glenn, C.C.1
Deng, G.2
Michaelis, R.C.3
Tarleton, J.4
Phelan, M.C.5
Surh, L.6
-
13
-
-
0030761243
-
-
Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, et al. Balanced translocation 46, XY, t(2; 15) (q37.2; q11.2) associated with atypical Prader-Willi syndrome [J]. Am J Hum Genet, 1997, 61 (2): 388-394.
-
Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, et al. Balanced translocation 46, XY, t(2; 15) (q37.2; q11.2) associated with atypical Prader-Willi syndrome [J]. Am J Hum Genet, 1997, 61 (2): 388-394.
-
-
-
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