-
1
-
-
0030034236
-
MR of the pituitary in patients with Prader-Willi syndrome: Size determination and imaging findings
-
Miller, L., Angulo, M., Price, D., et al. (1996) MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings. Pediatric Radiology, 26, 43-47.
-
(1996)
Pediatric Radiology
, vol.26
, pp. 43-47
-
-
Miller, L.1
Angulo, M.2
Price, D.3
-
2
-
-
41849115198
-
Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome
-
Iughetti, L., Bosio, L., Corrias, A., et al. (2008) Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome. European Journal of Pediatrics, 167, 701-702.
-
(2008)
European Journal of Pediatrics
, vol.167
, pp. 701-702
-
-
Iughetti, L.1
Bosio, L.2
Corrias, A.3
-
3
-
-
12444268426
-
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI
-
Shapira, N.A., Lessig, M.C., He, A.G., et al. (2005) Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI. Journal of Neurology, Neurosurgery and Psychiatry, 76, 260-262.
-
(2005)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.76
, pp. 260-262
-
-
Shapira, N.A.1
Lessig, M.C.2
He, A.G.3
-
4
-
-
84885113810
-
Prader-Willi syndrome
-
R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens eds. University of Washington, Seattle, WA.
-
Cassidy, S.B., &, Schwartz, S., (19931998) Prader-Willi syndrome. In:, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, eds. GeneReview. University of Washington, Seattle, WA.
-
(1993)
GeneReview
-
-
Cassidy, S.B.1
Schwartz, S.2
-
5
-
-
21644441747
-
Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment
-
Nagai, T., Obata, K., Tonoki, H., et al. (2005) Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment. American Journal of Medical Genetics. Part A, 136, 45-48.
-
(2005)
American Journal of Medical Genetics. Part A
, vol.136
, pp. 45-48
-
-
Nagai, T.1
Obata, K.2
Tonoki, H.3
-
6
-
-
41849105801
-
The Italian national survey for Prader-Willi syndrome: An epidemiologic study
-
Grugni, G., Crinò, A., Bosio, L., et al. (2008) The Italian national survey for Prader-Willi syndrome: an epidemiologic study. American Journal of Medical Genetics. Part A, 146, 861-872.
-
(2008)
American Journal of Medical Genetics. Part A
, vol.146
, pp. 861-872
-
-
Grugni, G.1
Crinò, A.2
Bosio, L.3
-
7
-
-
33646875038
-
Mortality in Prader-Willi syndrome
-
Einfeld, S.L., Kavanagh, S.J., Smith, A., et al. (2006) Mortality in Prader-Willi syndrome. American Journal of Mental Retardation, 111, 193-198.
-
(2006)
American Journal of Mental Retardation
, vol.111
, pp. 193-198
-
-
Einfeld, S.L.1
Kavanagh, S.J.2
Smith, A.3
-
8
-
-
41849091898
-
Review of 64 cases of death in children with Prader-Willi syndrome (PWS)
-
Tauber, M., Diene, G., Molinas, C., et al. (2008) Review of 64 cases of death in children with Prader-Willi syndrome (PWS). American Journal of Medical Genetics. Part A, 146, 881-887.
-
(2008)
American Journal of Medical Genetics. Part A
, vol.146
, pp. 881-887
-
-
Tauber, M.1
Diene, G.2
Molinas, C.3
-
9
-
-
0347417904
-
Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals
-
Stevenson, D.A., Anaya, T.M., Clayton-Smith, J., et al. (2004) Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. American Journal of Medical Genetics. Part A, 124A, 158-164.
-
(2004)
American Journal of Medical Genetics. Part A
, vol.124 A
, pp. 158-164
-
-
Stevenson, D.A.1
Anaya, T.M.2
Clayton-Smith, J.3
-
10
-
-
0028852641
-
Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: A study of five cases
-
Swaab, D.F., Purba, J.S., &, Hofman, M.A., (1995) Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. Journal of Clinical Endocrinology and Metabolism, 80, 573-579.
-
(1995)
Journal of Clinical Endocrinology and Metabolism
, vol.80
, pp. 573-579
-
-
Swaab, D.F.1
Purba, J.S.2
Hofman, M.A.3
-
11
-
-
17844364660
-
Molecular basis of adrenal insufficiency
-
Fujieda, K., &, Tajima, T., (2005) Molecular basis of adrenal insufficiency. Pediatric Research, 57 (5 Pt 2): 62R-69R.
-
(2005)
Pediatric Research
, vol.57
, Issue.5 PART 2
-
-
Fujieda, K.1
Tajima, T.2
-
12
-
-
84925856036
-
Pitfalls in the diagnosis of central adrenal insufficiency in children
-
Kazlauskaite, R., &, Maghnie, M., (2010) Pitfalls in the diagnosis of central adrenal insufficiency in children. Endocrine Development, 17, 96-107.
-
(2010)
Endocrine Development
, vol.17
, pp. 96-107
-
-
Kazlauskaite, R.1
Maghnie, M.2
-
13
-
-
33847417017
-
Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome
-
Bittel, D.C., Kibiryeva, N., McNulty, S.G., et al. (2007) Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. American Journal of Medical Genetics. Part A, 143, 422-429.
-
(2007)
American Journal of Medical Genetics. Part A
, vol.143
, pp. 422-429
-
-
Bittel, D.C.1
Kibiryeva, N.2
McNulty, S.G.3
-
14
-
-
0014495009
-
Adrenal response to ACTH in patients with Prader-Willi syndrome, simple obesity, and constitutional dwarfism
-
Rudd, B.T., Chance, G.W., &, Theodoridis, C.G., (1969) Adrenal response to ACTH in patients with Prader-Willi syndrome, simple obesity, and constitutional dwarfism. Archives of Disease in Childhood, 44, 244-247.
-
(1969)
Archives of Disease in Childhood
, vol.44
, pp. 244-247
-
-
Rudd, B.T.1
Chance, G.W.2
Theodoridis, C.G.3
-
15
-
-
43249083126
-
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome
-
de Lind van Wijngaarden, R.F., Otten, B.J., Festen, D.A., et al. (2008) High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism, 93, 1649-1654.
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 1649-1654
-
-
De Lind Van Wijngaarden, R.F.1
Otten, B.J.2
Festen, D.A.3
-
16
-
-
67650272840
-
The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome
-
de Lind van Wijngaarden, R.F., Joosten, K.F., van den Berg, S., et al. (2009) The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism, 94, 2387-2393.
-
(2009)
Journal of Clinical Endocrinology and Metabolism
, vol.94
, pp. 2387-2393
-
-
De Lind Van Wijngaarden, R.F.1
Joosten, K.F.2
Van Den Berg, S.3
-
17
-
-
78650038072
-
Normal Cortisol Response on Low-Dose Synacthen (1 μg) Test in Children with Prader-Willi syndrome
-
Nyunt, O., Cotterill, A.M., Archbold, S.M., et al. (2010) Normal Cortisol Response on Low-Dose Synacthen (1 μg) Test in Children with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism, 95, E464-E467.
-
(2010)
Journal of Clinical Endocrinology and Metabolism
, vol.95
-
-
Nyunt, O.1
Cotterill, A.M.2
Archbold, S.M.3
-
18
-
-
78650865204
-
Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome
-
Farholt, S., Sode-Carlsen, R., Christiansen, J.S., et al. (2011) Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism, 96, E173-E180.
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, vol.96
-
-
Farholt, S.1
Sode-Carlsen, R.2
Christiansen, J.S.3
-
19
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm, V.A., Cassidy, S.B., Butler, M.G., et al. (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
-
20
-
-
0013977629
-
Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children
-
Tanner, J.M., Whitehouse, R.H., &, Takaishi, M., (1966) Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children. Archives of Disease in Childhood, 41, 613-635.
-
(1966)
Archives of Disease in Childhood
, vol.41
, pp. 613-635
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
21
-
-
70349555987
-
2000 CDC growth charts for the United States: Methods and development
-
Kuczmarski, R.J., Ogden, C.L., Guo, S.S., et al. (2002) 2000 CDC growth charts for the United States: methods and development. Vital and Health Statistics, 11, 1-190.
-
(2002)
Vital and Health Statistics
, vol.11
, pp. 1-190
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Guo, S.S.3
-
22
-
-
33748998206
-
Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr)
-
Cacciari, E., Milani, S., Balsamo, A., et al. (2006) Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr). Journal of Endocrinological Investigation, 29, 581-593.
-
(2006)
Journal of Endocrinological Investigation
, vol.29
, pp. 581-593
-
-
Cacciari, E.1
Milani, S.2
Balsamo, A.3
-
23
-
-
0014524644
-
Variation in the pattern of pubertal changes in girls
-
Marshall, W.A., &, Tanner, J.M., (1969) Variation in the pattern of pubertal changes in girls. Archives of Disease in Childhood, 44, 291-303.
-
(1969)
Archives of Disease in Childhood
, vol.44
, pp. 291-303
-
-
Marshall, W.A.1
Tanner, J.M.2
-
24
-
-
0014736650
-
Variation in the pattern of pubertal changes in boys
-
Marshall, W.A., &, Tanner, J.M., (1970) Variation in the pattern of pubertal changes in boys. Archives of Disease in Childhood, 45, 13-23.
-
(1970)
Archives of Disease in Childhood
, vol.45
, pp. 13-23
-
-
Marshall, W.A.1
Tanner, J.M.2
-
25
-
-
0033304514
-
Optimizing the diagnostic criteria for standard (250-μg) and low dose (1-μg) adrenocorticotropin tests in the assessment of adrenal function
-
Zarkovic, M., Ciric, J., Stojanovic, M., et al. (1999) Optimizing the diagnostic criteria for standard (250-μg) and low dose (1-μg) adrenocorticotropin tests in the assessment of adrenal function. Journal of Clinical Endocrinology and Metabolism, 84, 3170-3173.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 3170-3173
-
-
Zarkovic, M.1
Ciric, J.2
Stojanovic, M.3
-
26
-
-
19744380353
-
Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: Comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests
-
Maghnie, M., Uga, E., Temporini, F., et al. (2005) Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests. European Journal of Endocrinology, 152, 735-741.
-
(2005)
European Journal of Endocrinology
, vol.152
, pp. 735-741
-
-
Maghnie, M.1
Uga, E.2
Temporini, F.3
-
27
-
-
12544259574
-
Sudden death in Prader-Willi syndrome during growth hormone therapy
-
Sacco, M., &, Di Giorgio, G., (2005) Sudden death in Prader-Willi syndrome during growth hormone therapy. Hormone Research, 63, 29-32.
-
(2005)
Hormone Research
, vol.63
, pp. 29-32
-
-
Sacco, M.1
Di Giorgio, G.2
-
28
-
-
25144513068
-
Death during GH therapy in children with Prader-Willi syndrome: Description of two new cases
-
Grugni, G., Livieri, C., Corrias, A., et al. (2005) Death during GH therapy in children with Prader-Willi syndrome: description of two new cases. Journal of Endocrinological Investigation, 28, 554-557.
-
(2005)
Journal of Endocrinological Investigation
, vol.28
, pp. 554-557
-
-
Grugni, G.1
Livieri, C.2
Corrias, A.3
-
29
-
-
78449290945
-
Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009
-
Connell, N.A., Paterson, W.F., Wallace, A.M., et al. (2010) Adrenal function and mortality in children and adolescents with Prader-Willi syndrome attending a single centre from 1991-2009. Clinical Endocrinology (Oxford), 73, 686-688.
-
(2010)
Clinical Endocrinology (Oxford)
, vol.73
, pp. 686-688
-
-
Connell, N.A.1
Paterson, W.F.2
Wallace, A.M.3
-
30
-
-
2142692709
-
The assessment of the hypothalamo-pituitary-adrenal axis in pituitary disease: Are there short cuts?
-
Dickstein, G., (2003) The assessment of the hypothalamo-pituitary-adrenal axis in pituitary disease: are there short cuts? Journal of Endocrinological Investigation, 26 (Suppl. 7), 25-30.
-
(2003)
Journal of Endocrinological Investigation
, vol.26
, Issue.SUPPL. 7
, pp. 25-30
-
-
Dickstein, G.1
-
31
-
-
0035138357
-
Hypothalamo-pituitary-adrenal axis testing: Nothing is sacred and caution in interpretation is needed
-
Dickstein, G., (2001) Hypothalamo-pituitary-adrenal axis testing: nothing is sacred and caution in interpretation is needed. Clinical Endocrinology (Oxford), 54, 15-16.
-
(2001)
Clinical Endocrinology (Oxford)
, vol.54
, pp. 15-16
-
-
Dickstein, G.1
-
32
-
-
0032420448
-
The one microgram adrenocorticotropin test in the assessment of hypothalamic-pituitary-adrenal function
-
Ambrosi, B., Barbetta, L., Re, T., et al. (1998) The one microgram adrenocorticotropin test in the assessment of hypothalamic-pituitary-adrenal function. European Journal of Endocrinology, 139, 575-579.
-
(1998)
European Journal of Endocrinology
, vol.139
, pp. 575-579
-
-
Ambrosi, B.1
Barbetta, L.2
Re, T.3
-
33
-
-
0032818016
-
The role of the low dose ACTH test in the evaluation of central hypoadrenalism
-
Ambrosi, B., &, Barbetta, L., (1999) The role of the low dose ACTH test in the evaluation of central hypoadrenalism. Journal of Endocrinological Investigation, 22, 492-495.
-
(1999)
Journal of Endocrinological Investigation
, vol.22
, pp. 492-495
-
-
Ambrosi, B.1
Barbetta, L.2
-
34
-
-
0033062851
-
Comparison of the low dose short synacthen test (1 μg), the conventional dose short synacthen test (250 μg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease
-
Abdu, T.A., Elhadd, T.A., Neary, R., et al. (1999) Comparison of the low dose short synacthen test (1 μg), the conventional dose short synacthen test (250 μg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease. Journal of Clinical Endocrinology and Metabolism, 84, 838-843.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 838-843
-
-
Abdu, T.A.1
Elhadd, T.A.2
Neary, R.3
-
35
-
-
0034077412
-
Low-dose (1 μg) adrenocorticotrophin (ACTH) stimulation as a screening test for impaired hypothalamo-pituitary-adrenal axis function: Sensitivity, specificity and accuracy in comparison with the high-dose (250 μg) test
-
Tordjman, K., Jaffe, A., Trostanetsky, Y., et al. (2000) Low-dose (1 μg) adrenocorticotrophin (ACTH) stimulation as a screening test for impaired hypothalamo-pituitary-adrenal axis function: sensitivity, specificity and accuracy in comparison with the high-dose (250 μg) test. Clinical Endocrinology (Oxford), 52, 633-640.
-
(2000)
Clinical Endocrinology (Oxford)
, vol.52
, pp. 633-640
-
-
Tordjman, K.1
Jaffe, A.2
Trostanetsky, Y.3
-
36
-
-
57349155306
-
Corticotrin tests for hypothalamic-pituitary- adrenal insufficiency: A meta-analysis
-
Kazlauskaite, R., Evans, A.T., Villabona, C.V., et al. (2008) Corticotrin tests for hypothalamic-pituitary- adrenal insufficiency: a meta-analysis. Journal of Clinical Endocrinology and Metabolism, 93, 4245-4253.
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, pp. 4245-4253
-
-
Kazlauskaite, R.1
Evans, A.T.2
Villabona, C.V.3
-
37
-
-
66549127143
-
Clinical Findings and natural history of Prader-Willi syndrome
-
M.G. Butler, P.D.K. Lee, B.Y. Whitman eds. 3rd edn. Springer, New York, NY.
-
Butler, M.G., Hanchett, J.M., &, Thompson, T., (2006) Clinical Findings and natural history of Prader-Willi syndrome. In:, M.G. Butler, P.D.K. Lee, B.Y. Whitman, eds. Management of Prader-Willi Syndrom, 3rd edn. Springer, New York, NY, 3-47.
-
(2006)
Management of Prader-Willi Syndrom
, pp. 3-47
-
-
Butler, M.G.1
Hanchett, J.M.2
Thompson, T.3
-
38
-
-
80054114869
-
Growth Hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes
-
Grugni, G., Giardino, D., Crinò, A., et al. (2010) Growth Hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. Journal of Endocrinological Investigation, 34, 493-497.
-
(2010)
Journal of Endocrinological Investigation
, vol.34
, pp. 493-497
-
-
Grugni, G.1
Giardino, D.2
Crinò, A.3
-
39
-
-
38049151233
-
Effect of growth hormone deficiency and recombinant hGH (rhGH) replacement on the hypothalamic-pituitary-adrenal axis in children with idiopathic isolated GH deficiency
-
Giavoli, C., Bergamaschi, S., Ferrante, E., et al. (2008) Effect of growth hormone deficiency and recombinant hGH (rhGH) replacement on the hypothalamic-pituitary-adrenal axis in children with idiopathic isolated GH deficiency. Clinical Endocrinology (Oxford), 68, 247-251.
-
(2008)
Clinical Endocrinology (Oxford)
, vol.68
, pp. 247-251
-
-
Giavoli, C.1
Bergamaschi, S.2
Ferrante, E.3
|