-
1
-
-
0000927260
-
Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustandim Neugeborenenalter
-
Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustandim Neugeborenenalter. Schweiz Med Wschr 1956; 86: 1260-1
-
(1956)
Schweiz Med Wschr
, vol.86
, pp. 1260-1261
-
-
Prader, A.1
Labhart, A.2
Willi, H.3
-
2
-
-
0037374087
-
Birth prevalence of Prader-Willi syndrome in Australia
-
Smith A, Egan J, Ridley G, Haan E, Montgomery P, Williams K, et al. Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child 2003; 88: 263-4
-
(2003)
Arch Dis Child
, vol.88
, pp. 263-264
-
-
Smith, A.1
Egan, J.2
Ridley, G.3
Haan, E.4
Montgomery, P.5
Williams, K.6
-
3
-
-
0032231460
-
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
-
Buiting K, Dittrich B, Gross S, Lich C, Farber C, Bucholz T, et al. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 1998; 63: 170-80
-
(1998)
Am J Hum Genet
, vol.63
, pp. 170-180
-
-
Buiting, K.1
Dittrich, B.2
Gross, S.3
Lich, C.4
Farber, C.5
Bucholz, T.6
-
4
-
-
0034686940
-
Prader-Willi syndrome
-
Couper RTL, Couper JJ. Prader-Willi syndrome. Lancet 2000; 356: 673-5
-
(2000)
Lancet
, vol.356
, pp. 673-675
-
-
Couper, R.T.L.1
Couper, J.J.2
-
5
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, 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
Hanchett, J.M.4
Greenswag, L.R.5
Whitman, B.Y.6
-
6
-
-
0025165774
-
Physical features of Prader-Willi syndrome in neonates
-
Aughton DJ, Cassidy SB. Physical features of Prader-Willi syndrome in neonates. AJDC 1990; 144: 1251-4
-
(1990)
AJDC
, vol.144
, pp. 1251-1254
-
-
Aughton, D.J.1
Cassidy, S.B.2
-
7
-
-
0032988452
-
The neonatal presentation of Prader-Willi syndrome revisited
-
Miller SP, Riley P, Shevell MI. The neonatal presentation of Prader-Willi syndrome revisited. J Pediatr 1999; 134: 226-8
-
(1999)
J Pediatr
, vol.134
, pp. 226-228
-
-
Miller, S.P.1
Riley, P.2
Shevell, M.I.3
-
8
-
-
0034899516
-
Diagnostic profile of neonatal hypotonia: An 11-year study
-
Richer LP, Shevell MI, Miller SP. Diagnostic profile of neonatal hypotonia: an 11-year study. Pediatr Neurol 2001; 25: 32-7
-
(2001)
Pediatr Neurol
, vol.25
, pp. 32-37
-
-
Richer, L.P.1
Shevell, M.I.2
Miller, S.P.3
-
9
-
-
0035098226
-
The role of genomic imprinting in human developmental disorders: Lessons from Prader-Willi syndrome
-
Hanel ML, Wevrick R. The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome. Clin Genet 2001; 59: 156-64
-
(2001)
Clin Genet
, vol.59
, pp. 156-164
-
-
Hanel, M.L.1
Wevrick, R.2
-
10
-
-
0030593844
-
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood
-
Wevrick R, Francke U. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet 1996; 348: 1068-9
-
(1996)
Lancet
, vol.348
, pp. 1068-1069
-
-
Wevrick, R.1
Francke, U.2
-
11
-
-
0142007161
-
Sindrome di Prader-Willi e di Angelmann: Esempio del fenomeno di imprinting in patologia umana
-
Carrozzo R. Sindrome di Prader-Willi e di Angelmann: esempio del fenomeno di imprinting in patologia umana. Prospettive in pediatria 1996; 103: 247-64
-
(1996)
Prospettive in Pediatria
, vol.103
, pp. 247-264
-
-
Carrozzo, R.1
-
13
-
-
10944223934
-
Intrauterine growth as estimated from live-born birth weight data at 24 to 42 weeks gestation
-
Lubchenco LO, Hansman C, Dressler M, Boyd E. Intrauterine growth as estimated from live-born birth weight data at 24 to 42 weeks gestation. Pediatrics 1963; 32: 793
-
(1963)
Pediatrics
, vol.32
, pp. 793
-
-
Lubchenco, L.O.1
Hansman, C.2
Dressler, M.3
Boyd, E.4
-
14
-
-
0012664681
-
La sindrome di Prader-Willi: Un problema pediatrico
-
Gargantini L, Beccaria L, Bosio L, Bregani P, Chutegui A, Chiumello G. La sindrome di Prader-Willi: un problema pediatrico. IJP 1999; 25: 1050-5
-
(1999)
IJP
, vol.25
, pp. 1050-1055
-
-
Gargantini, L.1
Beccaria, L.2
Bosio, L.3
Bregani, P.4
Chutegui, A.5
Chiumello, G.6
-
15
-
-
0033810473
-
Familial Prader-Willi syndrome: Case report and a literature review
-
McEntagart ME, Webb T, Hardy C, King MD. Familial Prader-Willi syndrome: case report and a literature review. Clin Genet 2000; 58: 216-23
-
(2000)
Clin Genet
, vol.58
, pp. 216-223
-
-
McEntagart, M.E.1
Webb, T.2
Hardy, C.3
King, M.D.4
-
16
-
-
0026647855
-
The frequency of uniparental disomy in Prader-Willi syndrome
-
Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA. The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med 1992; 326: 1599-607
-
(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
-
17
-
-
0029907547
-
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
-
Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, et al. Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 1996; 65: 133-6
-
(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
-
18
-
-
0028900374
-
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome
-
Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995; 32: 88-92
-
(1995)
J Med Genet
, vol.32
, pp. 88-92
-
-
Gillessen-Kaesbach, G.1
Gross, S.2
Kaya-Westerloh, S.3
Passarge, E.4
Horsthemke, B.5
-
19
-
-
0141937798
-
Gravidanza e parto: Una nuova coscienza femminile, un nuovo protagonismo maschile
-
aprile
-
Sabbadini LL. Gravidanza e parto: una nuova coscienza femminile, un nuovo protagonismo maschile. ISTAT 2001, 12 aprile
-
(2001)
ISTAT
, vol.12
-
-
Sabbadini, L.L.1
-
20
-
-
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: 106-10
-
(1997)
Am J Med Genet
, vol.71
, pp. 106-110
-
-
Gunay-Aygun, M.1
Heeger, S.2
Schwartz, S.3
Cassidy, S.B.4
-
21
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
-
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy S. 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.5
-
22
-
-
0026557311
-
Neonatal presentation of Prader-Willi syndrome
-
Stephenson JBP. Neonatal presentation of Prader-Willi syndrome. Am J Dis Child 1992; 146: 151-2
-
(1992)
Am J Dis Child
, vol.146
, pp. 151-152
-
-
Stephenson, J.B.P.1
-
23
-
-
0033813924
-
A fetus with Prader-Willi syndrome showing normal diurnal rhythm an abnormal ultradian rhythm on heart rate monitoring
-
Hiroi H, Kozuma S, Hayashi N, Unno N, Fujii T, Tsutsumi O, et al. A fetus with Prader-Willi syndrome showing normal diurnal rhythm an abnormal ultradian rhythm on heart rate monitoring. Fetal Diagn Ther 2000; 15: 304-7
-
(2000)
Fetal Diagn Ther
, vol.15
, pp. 304-307
-
-
Hiroi, H.1
Kozuma, S.2
Hayashi, N.3
Unno, N.4
Fujii, T.5
Tsutsumi, O.6
-
24
-
-
0034030592
-
GH/IGF-I axis in Prader-Willi syndrome: Evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli
-
Corrias A, Bellone J, Beccaria L, Bosio L, Trifirò G, Livieri C, et al. GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. J Endocrinol Invest 2000; 23: 84-9
-
(2000)
J Endocrinol Invest
, vol.23
, pp. 84-89
-
-
Corrias, A.1
Bellone, J.2
Beccaria, L.3
Bosio, L.4
Trifirò, G.5
Livieri, C.6
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