-
1
-
-
31044455614
-
Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
-
Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005, 7: 1-20.
-
(2005)
Expert Rev Mol Med
, vol.7
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
3
-
-
1042267409
-
Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
-
DOI 10.1016/j.tem.2003.11.003
-
Goldstone AP. Prader-Willi syndrome: advances in genetics, pathophysiology and treatment Trends Endocrinol Metab 2004, 15: 12-20. (Pubitemid 38198094)
-
(2004)
Trends in Endocrinology and Metabolism
, vol.15
, Issue.1
, pp. 12-20
-
-
Goldstone, A.P.1
-
4
-
-
0030924840
-
Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
-
DOI 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. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy. Am J Med Genet 1997, 71: 106-10. (Pubitemid 27276708)
-
(1997)
American Journal of Medical Genetics
, vol.71
, Issue.1
, pp. 106-110
-
-
Gunay-Aygun, M.1
Heeger, S.2
Schwartz, S.3
Cassidy, S.B.4
-
5
-
-
0033977837
-
Intellectual characteristics of Prader-Willi syndrome: Comparison of genetic subtypes
-
DOI 10.1046/j.1365-2788.2000.00250.x
-
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. (Pubitemid 30076967)
-
(2000)
Journal of Intellectual Disability Research
, vol.44
, Issue.1
, pp. 25-30
-
-
Roof, E.1
Stone, W.2
MacLean, W.3
Feurer, I.D.4
Thompson, T.5
Butler, M.G.6
-
6
-
-
1442323876
-
Behavioral Differences among Subjects with Prader-Willi Syndrome and Type I or Type II Deletion and Maternal Disomy
-
DOI 10.1542/peds.113.3.565
-
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletions and maternal disomy. Pediatrics 2004, 113: 565-73. (Pubitemid 38280799)
-
(2004)
Pediatrics
, vol.113
, Issue.3 I
, pp. 565-573
-
-
Butler, M.G.1
Bittel, D.C.2
Kibiryeva, N.3
Talebizadeh, Z.4
Thompson, T.5
-
7
-
-
50449083328
-
Behavior in Prader-Willi syndrome: Relationship to genetic subtypes and age
-
Dykens EM, Roof E. Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age. J Child Psychol Psychiatr 2008, 49: 1001-8.
-
(2008)
J Child Psychol Psychiatr
, vol.49
, pp. 1001-1008
-
-
Dykens, E.M.1
Roof, E.2
-
8
-
-
0025997680
-
Standards for selected anthropometric measurements in Prader-Willi families
-
Butler MG, Meaney FJ. Standards for selected anthropometric measurements in Prader-Willi families. Pediatrics 1991, 88: 853-60.
-
(1991)
Pediatrics
, vol.88
, pp. 853-860
-
-
Butler, M.G.1
Meaney, F.J.2
-
9
-
-
0033868812
-
Consensus statement - Prader-Willi syndrome: Growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment
-
Lee PDK, Allen DB, Angulo MA, et al. Consensus statement - Prader-Willi syndrome: growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment. The Endocrinologist 2000, 10 (Suppl 1): 71S-4S. (Pubitemid 30614860)
-
(2000)
Endocrinologist
, vol.10
, Issue.4 SUPPL. 1
-
-
Lee, P.D.K.1
Allen, D.B.2
Angulo, M.A.3
Cappa, M.4
Carrel, A.L.5
Castro-Magana, M.6
Chiumello, G.7
Davies, P.S.W.8
Eiholzer, U.9
Grugni, G.10
Hauffa, B.P.11
Hintz, R.L.12
Lammer, C.13
Mogul, H.R.14
Myers, S.E.15
Partsch, C.-J.16
Pescovitz, O.H.17
Ritzen, E.M.18
Rosenfeld, R.G.19
Sipila, I.20
Wilson, D.M.21
more..
-
10
-
-
0035719948
-
Endocrine dysfunction in Prader-Willi syndrome: A review with special reference to GH
-
DOI 10.1210/er.22.6.787
-
Burman P, Ritzen EM, Lindgren AC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev 2001, 22: 787-99. (Pubitemid 34214295)
-
(2001)
Endocrine Reviews
, vol.22
, Issue.6
, pp. 787-799
-
-
Burman, P.1
Ritzen, E.M.2
Lindgren, A.C.3
-
11
-
-
0033883452
-
Adult patients with Prader-Willi syndrome: Clinical characteristics, life circumstances and growth hormone secretion
-
Partsch CJ, Lämmer C, Gillessen-Kaesbach G, Pankau R. Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 2000, 10 (Suppl B): S81-5. (Pubitemid 30637221)
-
(2000)
Growth Hormone and IGF Research
, vol.10
, Issue.SUPPL. B
-
-
Partsch, C.A.1
Lammer, C.2
Gillessen-Kaesbach, G.3
Pankau, R.4
-
12
-
-
0034998016
-
Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in Prader-Willi syndrome
-
Grugni G, Guzzaloni G, Morabito F. Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in Prader-Willi syndrome. J Endocrinol Invest 2001, 24: 340-8. (Pubitemid 32492371)
-
(2001)
Journal of Endocrinological Investigation
, vol.24
, Issue.5
, pp. 340-348
-
-
Grugni, G.1
Guzzaloni, G.2
Morabito, F.3
-
13
-
-
0036348083
-
Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity
-
Hoybye C, Hilding A, Jacobsson H, Thorén M. Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J Clin Endocrinol Metab 2002, 87: 3590-7.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3590-3597
-
-
Hoybye, C.1
Hilding, A.2
Jacobsson, H.3
Thorén, M.4
-
14
-
-
63749102425
-
Body fat excess and stimulated Growth Hormone levels in adult patients with Prader-Willi syndrome
-
Grugni G, Crinò A, Bertocco P, Marzullo P. Body fat excess and stimulated Growth Hormone levels in adult patients with Prader-Willi syndrome. Am J Med Genet A 2009, 149: 726-31.
-
(2009)
Am J Med Genet A
, vol.149
, pp. 726-731
-
-
Grugni, G.1
Crinò, A.2
Bertocco, P.3
Marzullo, P.4
-
15
-
-
33748805758
-
Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome
-
DOI 10.1111/j.1365-2265.2006.02621.x
-
Grugni G, Marzullo P, Ragusa L, et al. Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome. Clin Endocrinol (Oxf) 2006, 65: 492-9. (Pubitemid 44414273)
-
(2006)
Clinical Endocrinology
, vol.65
, Issue.4
, pp. 492-499
-
-
Grugni, G.1
Marzullo, P.2
Ragusa, L.3
Sartorio, A.4
Trifiro, G.5
Liuzzi, A.6
Crino, A.7
-
16
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: Consensus Diagnostic Criteria. Pediatrics 1993, 91: 398-402. (Pubitemid 23042323)
-
(1993)
Pediatrics
, vol.91
, Issue.2
, 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
-
17
-
-
33644678754
-
Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype
-
DOI 10.1111/j.1469-7610.2005.01520.x
-
Milner KM, Craig EE, Thompson RJ, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtypes. J Child Psychol Psychiatr 2005, 46: 1089-96. (Pubitemid 44201556)
-
(2005)
Journal of Child Psychology and Psychiatry and Allied Disciplines
, vol.46
, Issue.10
, pp. 1089-1096
-
-
Milner, K.M.1
Craig, E.E.2
Thompson, R.J.3
Veltman, M.W.M.4
Simon, T.N.5
Roberts, S.6
Bellamy, M.7
Curran, S.R.8
Sporikou, C.M.J.9
Bolton, P.F.10
-
18
-
-
0013977629
-
Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965
-
Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. Arch Dis Child 1966, 41: 613-35.
-
(1966)
Arch Dis Child
, vol.41
, pp. 613-635
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
19
-
-
38349050260
-
Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: A statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia
-
on behalf of the 2007 GH Deficiency Consensus Workshop Participants
-
Ho KKY, on behalf of the 2007 GH Deficiency Consensus Workshop Participants. Consensus guidelines for the diagnosis and treatment of adults with GH deficiency II: a statement of the GH Research Society in association with the European Society for Pediatric Endocrinology, Lawson Wilkins Society, European Society of Endocrinology, Japan Endocrine Society, and Endocrine Society of Australia. Eur J Endocrinol 2007, 157: 695-700.
-
(2007)
Eur J Endocrinol
, vol.157
, pp. 695-700
-
-
Ho, K.K.Y.1
-
20
-
-
0032858626
-
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
-
DOI 10.1352/0895-8017(1999)104<0067:MBDIPS>2.0.CO;2
-
Dykens EM, Cassidy SB, King BH. Maladaptive behaviour differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Mental Retard 1999, 104: 67-77. (Pubitemid 29394906)
-
(1999)
American Journal on Mental Retardation
, vol.104
, Issue.1
, pp. 67-77
-
-
Dykens, E.M.1
Cassidy, S.B.2
King, B.H.3
-
21
-
-
34249779261
-
Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan
-
DOI 10.1111/j.1651-2227.2007.00284.x
-
Lin H, Lin S, Chuang C, et al. Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan. Acta Paediatr 2007, 96: 902-5. (Pubitemid 46846897)
-
(2007)
Acta Paediatrica, International Journal of Paediatrics
, vol.96
, Issue.6
, 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
-
22
-
-
60249100257
-
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome
-
Lond
-
Holsen LM, Zarcone JR, Chambers R, et al. Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome. Int J Obes (Lond) 2009, 33: 273-83.
-
(2009)
Int J Obes
, vol.33
, pp. 273-283
-
-
Holsen, L.M.1
Zarcone, J.R.2
Chambers, R.3
-
23
-
-
22044443271
-
Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome
-
DOI 10.1002/ajmg.a.30771
-
Hartley SL, MacLean Jr WE, Butler MG, Zarcone J, Thompson T. Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A 2005, 136: 140-5. (Pubitemid 40967103)
-
(2005)
American Journal of Medical Genetics
, vol.136 A
, Issue.2
, pp. 140-145
-
-
Hartley, S.L.1
MacLean Jr., W.E.2
Butler, M.G.3
Zarcone, J.4
Thompson, T.5
-
24
-
-
12744274907
-
Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients
-
Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. 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
-
25
-
-
36649012421
-
Gonadal function and its disorders in simple obesity and in Prader-Willi syndrome
-
Eiholzer U, l'Allemand D, Zipf WB eds. Basel: Karger
-
Grugni G, Morabito F, Crinò A. Gonadal function and its disorders in simple obesity and in Prader-Willi syndrome. In: Eiholzer U, l'Allemand D, Zipf WB eds. Prader-Willi syndrome as a model for obesity. Basel: Karger. 2003, 140-55.
-
(2003)
Prader-Willi Syndrome As A Model for Obesity
, pp. 140-155
-
-
Grugni, G.1
Morabito, F.2
Crinò, A.3
-
26
-
-
33646402056
-
Evaluation and treatment of adult growth hormone deficiency: An Endocrine Society clinical practice guideline
-
for The Endocrine Society's Clinical Guidelines Subcommittee
-
Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Shalet SM, Vance ML, for The Endocrine Society's Clinical Guidelines Subcommittee. Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2006, 91: 1621-34.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1621-1634
-
-
Molitch, M.E.1
Clemmons, D.R.2
Malozowski, S.3
Merriam, G.R.4
Shalet, S.M.5
Vance, M.L.6
-
27
-
-
43249083126
-
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome
-
DOI 10.1210/jc.2007-2294
-
De Lind van Wijngaarden RF, Otten BJ, Festen DA, et al. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 2008, 93: 1649-54. (Pubitemid 351656500)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.5
, pp. 1649-1654
-
-
De Lind, V.W.R.F.A.1
Otten, B.J.2
Festen, D.A.M.3
Joosten, K.F.M.4
De Jong, F.H.5
Sweep, F.C.G.J.6
Hokken-Koelega, A.C.S.7
-
28
-
-
0031753015
-
Comparison between insulin-induced hypoglycemia and growth hormone (GH)- releasing hormone + arginine as provocative tests for the diagnosis of GH deficiency in adults
-
DOI 10.1210/jc.83.5.1615
-
Aimaretti G, Cornell G, Razzore P, et al. Comparison between insulin-induced hypoglycemia and growth hormone (GH)-releasing hormone+arginine as provocative tests for the diagnosis of GH deficiency in adults. J Clin Endocrinol Metab 1998, 83: 1615-8. (Pubitemid 28501031)
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, vol.83
, Issue.5
, pp. 1615-1618
-
-
Aimaretti, G.1
Corneli, G.2
Razzore, P.3
Bellone, S.4
Baffoni, C.5
Arvat, E.6
Camanni, F.7
Ghigo, E.8
-
29
-
-
23844482496
-
The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index
-
DOI 10.1530/eje.1.01967
-
Corneli G, Di Somma C, Baldelli R, et al. The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index. Eur J Endocrinol 2005, 153: 257-64. (Pubitemid 41174451)
-
(2005)
European Journal of Endocrinology
, vol.153
, Issue.2
, pp. 257-264
-
-
Corneli, G.1
Di, S.C.2
Baldelli, R.3
Rovere, S.4
Gasco, V.5
Croce, C.G.6
Grottoli, S.7
Maccario, M.8
Colao, A.9
Lombardi, G.10
Ghigo, E.11
Camanni, F.12
Aimaretti, G.13
-
30
-
-
0001899570
-
Physiological regulators of growth hormone secretion
-
Juul A, Jorgensen JOL eds. 2nd ed. Cambridge University Press: Cambridge
-
Hartman ML. Physiological regulators of growth hormone secretion. In: Juul A, Jorgensen JOL eds. Growth hormone in adults, 2nd ed. Cambridge University Press: Cambridge. 2000, 3-53.
-
(2000)
Growth Hormone in Adults
, pp. 3-53
-
-
Hartman, M.L.1
-
31
-
-
0043198265
-
Serum levels of insulin-like growth factor I and its binding proteins in health and disease
-
DOI 10.1016/S1096-6374(03)00038-8
-
Juul A. Serum levels of insulin-like growth factor I and its binding proteins in health and disease. Growth Horm IGF Res 2003, 13: 113-70. (Pubitemid 36986557)
-
(2003)
Growth Hormone and IGF Research
, vol.13
, Issue.4
, pp. 113-170
-
-
Juul, A.1
-
32
-
-
77949657541
-
Pleiotropic role of IGF-I in obesity hypoventilation syndrome
-
Monneret D, Borel J-C, Pepin JL, et al. Pleiotropic role of IGF-I in obesity hypoventilation syndrome. Growth Horm IGF Res 2010, 20: 127-33.
-
(2010)
Growth Horm IGF Res
, vol.20
, pp. 127-133
-
-
Monneret, D.1
Borel, J.-C.2
Pepin, J.L.3
-
33
-
-
0347720717
-
Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emhapsis on the effect of growth hormone treatment
-
DOI 10.1016/j.ghir.2003.09.003
-
Hoybye C. Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. Growth Horm IGF Res 2004, 14: 1-15. (Pubitemid 38094239)
-
(2004)
Growth Hormone and IGF Research
, vol.14
, Issue.1
, pp. 1-15
-
-
Hoybye, C.1
-
34
-
-
33847624541
-
Quality of life and psychological well-being in GH-treated, adult PWS patients: A longitudinal study
-
DOI 10.1111/j.1365-2788.2006.00878.x
-
Bertella L, Mori I, Grugni G, et al. Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Int Disab Res 2007, 51: 302-11. (Pubitemid 46351487)
-
(2007)
Journal of Intellectual Disability Research
, vol.51
, Issue.4
, pp. 302-311
-
-
Bertella, L.1
Mori, I.2
Grugni, G.3
Pignatti, R.4
Ceriani, F.5
Molinari, E.6
Ceccarelli, A.7
Sartorio, A.8
Vettor, R.9
Semenza, C.10
|