-
1
-
-
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 Wschr 86:1260-1261
-
(1956)
Schweiz Med Wschr
, vol.86
, pp. 1260-1261
-
-
Prader, A.1
Labhart, A.2
Willi, H.3
-
3
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
-
DOI 10.1038/342281a0
-
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M 1989 Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281-285 (Pubitemid 19283323)
-
(1989)
Nature
, vol.342
, Issue.6247
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.M.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
4
-
-
31044455614
-
Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
-
Bittel DC, Butler MG 2005 Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7:1-20
-
(2005)
Expert Rev Mol Med
, vol.7
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
5
-
-
0026353331
-
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
-
Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Mächler M, Prader A, Schinzel A 1991 Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
Bottani, A.2
Xie, Y.G.3
Balakrishman, J.4
Binkert, F.5
Mächler, M.6
Prader, A.7
Schinzel, A.8
-
6
-
-
31544446862
-
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects
-
Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL 2006 A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet 15:393-404
-
(2006)
Hum Mol Genet
, vol.15
, pp. 393-404
-
-
Johnstone, K.A.1
DuBose, A.J.2
Futtner, C.R.3
Elmore, M.D.4
Brannan, C.I.5
Resnick, J.L.6
-
7
-
-
53949084203
-
Food-related neural circuitry in Prader-Willi syndrome: Response to high- Versus low-calorie foods
-
Dimitropoulos A, Schultz RT 2008 Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. J Autism Dev Disord 38:1642-1653
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 1642-1653
-
-
Dimitropoulos, A.1
Schultz, R.T.2
-
8
-
-
33846887849
-
Neural mechanisms underlying hyperphagia in Prader-Willi syndrome
-
Silver Spring
-
Holsen LM, Zarcone JR, Brooks WM, Butler MG, Thompson TI, Ahluwalia JS, Nollen NL, Savage CR 2006 Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring) 14:1028-1037
-
(2006)
Obesity
, vol.14
, pp. 1028-1037
-
-
Holsen, L.M.1
Zarcone, J.R.2
Brooks, W.M.3
Butler, M.G.4
Thompson, T.I.5
Ahluwalia, J.S.6
Nollen, N.L.7
Savage, C.R.8
-
9
-
-
32544442895
-
Neural representations of hunger and satiety in Prader-Willi syndrome
-
Hinton EC, Holland AJ, Gellatly MS, Soni S, Patterson M, Ghatei MA, Owen AM 2006 Neural representations of hunger and satiety in Prader-Willi syndrome. Int J Obes (Lond) 30:313-321
-
(2006)
Int J Obes (Lond)
, vol.30
, pp. 313-321
-
-
Hinton, E.C.1
Holland, A.J.2
Gellatly, M.S.3
Soni, S.4
Patterson, M.5
Ghatei, M.A.6
Owen, A.M.7
-
10
-
-
12444268426
-
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI
-
Shapira NA, Lessig MC, He AG, James GA, Driscoll DJ, Liu Y 2005 Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI. J Neurol Neurosurg Psychiatry 76:260-262
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 260-262
-
-
Shapira, N.A.1
Lessig, M.C.2
He, A.G.3
James, G.A.4
Driscoll, D.J.5
Liu, Y.6
-
11
-
-
33746054604
-
Growth hormone treatment and adverse events in Prader-Willi syndrome: Data from KIGS (the Pfizer International Growth Database)
-
Oxf
-
Craig ME, Cowell CT, Larsson P, Zipf WB, Reiter EO, Albertsson Wikland K, Ranke MB, Price DA 2006 Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clin Endocrinol (Oxf) 65:178-185
-
(2006)
Clin Endocrinol
, vol.65
, pp. 178-185
-
-
Craig, M.E.1
Cowell, C.T.2
Larsson, P.3
Zipf, W.B.4
Reiter, E.O.5
Albertsson Wikland, K.6
Ranke, M.B.7
Price, D.A.8
-
12
-
-
0036440586
-
Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. A case report
-
Eiholzer U, Nordmann Y, L'Allemand D 2002 Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. A case report. Horm Res 58(Suppl 3):24-26
-
(2002)
Horm Res
, vol.58
, Issue.3
, pp. 24-26
-
-
Eiholzer, U.1
Nordmann, Y.2
L'Allemand, D.3
-
13
-
-
41849091898
-
Review of 64 cases of death in children with Prader-Willi syndrome (PWS)
-
Tauber M, Diene G, Molinas C, Hébert M 2008 Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet Part A 146:881-887
-
(2008)
Am J Med Genet Part A
, vol.146
, pp. 881-887
-
-
Tauber, M.1
Diene, G.2
Molinas, C.3
Hébert, M.4
-
14
-
-
43249083126
-
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome
-
de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC 2008 High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 93:1649-1654
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1649-1654
-
-
De Lind Van Wijngaarden, R.F.1
Otten, B.J.2
Festen, D.A.3
Joosten, K.F.4
De Jong, F.H.5
Sweep, F.C.6
Hokken-Koelega, A.C.7
-
15
-
-
0347417904
-
Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals
-
Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL 2004 Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet Part A 124A:158-164
-
(2004)
Am J Med Genet Part A
, vol.124 A
, pp. 158-164
-
-
Stevenson, D.A.1
Anaya, T.M.2
Clayton-Smith, J.3
Hall, B.D.4
Van Allen, M.I.5
Zori, R.T.6
Zackai, E.H.7
Frank, G.8
Clericuzio, C.L.9
-
16
-
-
0033062851
-
Comparison of the low dose short synacthen test (1 microg), the conventional dose short synacthen test (250 microg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease
-
Abdu TA, Elhadd TA, Neary R, Clayton RN 1999 Comparison of the low dose short synacthen test (1 microg), the conventional dose short synacthen test (250 microg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease. J Clin Endocrinol Metab 84:838-843
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 838-843
-
-
Abdu, T.A.1
Elhadd, T.A.2
Neary, R.3
Clayton, R.N.4
-
17
-
-
0031768102
-
Standard and low-dose short adrenocorticotropin test compared with insulin-induced hypoglycemia for assessment of the hypothalamic-pituitary- adrenal axis in children with idiopathic multiple pituitary hormone deficiencies
-
Weintrob N, Sprecher E, Josefsberg Z, Weininger C, Aurbach-Klipper Y, Lazard D, Karp M, Pertzelan A 1998 Standard and low-dose short adrenocorticotropin test compared with insulin-induced hypoglycemia for assessment of the hypothalamic-pituitary-adrenal axis in children with idiopathic multiple pituitary hormone deficiencies. J Clin Endocrinol Metab 83:88-92
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 88-92
-
-
Weintrob, N.1
Sprecher, E.2
Josefsberg, Z.3
Weininger, C.4
Aurbach-Klipper, Y.5
Lazard, D.6
Karp, M.7
Pertzelan, A.8
-
18
-
-
57349155306
-
Corticotropin tests for hypothalamic-pituitary-adrenal insufficiency: A meta-analysis
-
Kazlauskaite R, Evans AT, Villabona CV, Abdu TA, Ambrosi B, Atkinson AB, Choi CH, Clayton RN, Courtney CH, Gonc EN, Maghnie M, Rose SR, Soule SG, Tordjman K 2008 Corticotropin tests for hypothalamic-pituitary-adrenal insufficiency: a meta-analysis. J Clin Endocrinol Metab 93:4245-4253
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 4245-4253
-
-
Kazlauskaite, R.1
Evans, A.T.2
Villabona, C.V.3
Abdu, T.A.4
Ambrosi, B.5
Atkinson, A.B.6
Choi, C.H.7
Clayton, R.N.8
Courtney, C.H.9
Gonc, E.N.10
Maghnie, M.11
Rose, S.R.12
Soule, S.G.13
Tordjman, K.14
-
19
-
-
0019413614
-
Clinical response to metyrapone as indicated by measurement of mineralocorticoids and glucocorticoids in normal children
-
Oxf
-
Sonino N, Chow D, Levine LS, New MI 1981 Clinical response to metyrapone as indicated by measurement of mineralocorticoids and glucocorticoids in normal children. Clin Endocrinol (Oxf) 14:31-39
-
(1981)
Clin Endocrinol
, vol.14
, pp. 31-39
-
-
Sonino, N.1
Chow, D.2
Levine, L.S.3
New, M.I.4
-
20
-
-
34748925845
-
The imprinted gene Magel2 regulates normal circadian output
-
Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL 2007 The imprinted gene Magel2 regulates normal circadian output. Nat Genet 39:1266-1272
-
(2007)
Nat Genet
, vol.39
, pp. 1266-1272
-
-
Kozlov, S.V.1
Bogenpohl, J.W.2
Howell, M.P.3
Wevrick, R.4
Panda, S.5
Hogenesch, J.B.6
Muglia, L.J.7
Van Gelder, R.N.8
Herzog, E.D.9
Stewart, C.L.10
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