-
1
-
-
1042267409
-
Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
-
Goldstone AP (2004) Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 15:12-20.
-
(2004)
Trends Endocrinol Metab
, vol.15
, pp. 12-20
-
-
Goldstone, A.P.1
-
2
-
-
0035564989
-
Prader-Willi syndrome how does growth hormone affect body composition and physical function?
-
Carrel AL, Allen DB (2001) Prader-Willi syndrome: how does growth hormone affect body composition and physical function? J Pediatr Endocrinol Metab 14(Suppl 6):1445-1451.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, Issue.SUPPL. 6
, pp. 1445-1451
-
-
Carrel, A.L.1
Allen, D.B.2
-
3
-
-
0037240916
-
Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome
-
Haqq AM, Farooqi IS, ORahilly S et al (2003) Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J Clin Endocrinol Metab 88:174-178.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 174-178
-
-
Haqq, A.M.1
Farooqi, I.S.2
Orahilly, S.3
-
4
-
-
68749097161
-
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
-
de Smith AJ, Purmann C, Walters RG et al (2009) A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18:3257-3265.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3257-3265
-
-
De Smith, A.J.1
Purmann, C.2
Walters, R.G.3
-
5
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo T, del Gaudio D, German JR et al (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40:719-721.
-
(2008)
Nat Genet
, vol.40
, pp. 719-721
-
-
Sahoo, T.1
Del Gaudio, D.2
German, J.R.3
-
6
-
-
0036291368
-
Gs(alpha) mutations and imprinting defects in human disease
-
Weinstein LS, Chen M, Liu J (2002) Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci 968:173-197.
-
(2002)
Ann N y Acad Sci
, vol.968
, pp. 173-197
-
-
Weinstein, L.S.1
Chen, M.2
Liu, J.3
-
7
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley SJ, Badano JL, Blacque OE et al (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425:628-633.
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
-
8
-
-
63149175815
-
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling
-
Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet 18:1323-1331.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1323-1331
-
-
Seo, S.1
Guo, D.F.2
Bugge, K.3
Morgan, D.A.4
Rahmouni, K.5
Sheffield, V.C.6
-
9
-
-
7044262828
-
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
-
Yeo GS, Connie Hung CC, Rochford J et al (2004) A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nat Neurosci 7:1187-1189.
-
(2004)
Nat Neurosci
, vol.7
, pp. 1187-1189
-
-
Yeo, G.S.1
Connie Hung, C.C.2
Rochford, J.3
-
10
-
-
33845530762
-
Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene
-
Gray J, Yeo GS, Cox JJ et al (2006) Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Diabetes 55:3366-3371.
-
(2006)
Diabetes
, vol.55
, pp. 3366-3371
-
-
Gray, J.1
Yeo, G.S.2
Cox, J.J.3
-
11
-
-
50449091665
-
Brain-derived neurotrophic factor and obesity in the WAGR syndrome
-
Han JC, Liu QR, Jones M et al (2008) Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 359:918-927.
-
(2008)
N Engl J Med
, vol.359
, pp. 918-927
-
-
Han, J.C.1
Liu, Q.R.2
Jones, M.3
-
12
-
-
0034016043
-
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
-
Holder JL Jr, Butte NF, Zinn AR (2000) Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet 9:101-108.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 101-108
-
-
Holder, J.L.1
Butte, N.F.2
Zinn, A.R.3
-
13
-
-
46349095132
-
Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice
-
Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR (2008) Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice. Mol Endocrinol 22:1723-1734.
-
(2008)
Mol Endocrinol
, vol.22
, pp. 1723-1734
-
-
Kublaoui, B.M.1
Gemelli, T.2
Tolson, K.P.3
Wang, Y.4
Zinn, A.R.5
-
14
-
-
0030889192
-
Targeted disruption of the melanocortin- 4. receptor results in obesity in mice
-
Huszar D, Lynch CA, Fairchild-Huntress V et al (1997) Targeted disruption of the melanocortin- 4. receptor results in obesity in mice. Cell 88:131-141.
-
(1997)
Cell
, vol.88
, pp. 131-141
-
-
Huszar, D.1
Lynch, C.A.2
Fairchild-Huntress, V.3
-
15
-
-
33846409122
-
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor
-
Farooqi IS, Wangensteen T, Collins S et al (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 356:237-247.
-
(2007)
N Engl J Med
, vol.356
, pp. 237-247
-
-
Farooqi, I.S.1
Wangensteen, T.2
Collins, S.3
-
16
-
-
0036800760
-
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency
-
Farooqi IS, Matarese G, Lord GM et al (2002) Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest 110:1093-1103.
-
(2002)
J Clin Invest
, vol.110
, pp. 1093-1103
-
-
Farooqi, I.S.1
Matarese, G.2
Lord, G.M.3
-
17
-
-
0033575993
-
Effects of recombinant leptin therapy in a child with congenital leptin deficiency
-
Farooqi IS, Jebb SA, Langmack G et al (1999) Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 341:879-884.
-
(1999)
N Engl J Med
, vol.341
, pp. 879-884
-
-
Farooqi, I.S.1
Jebb, S.A.2
Langmack, G.3
-
18
-
-
34548675339
-
Leptin regulates striatal regions and human eating behavior
-
Farooqi IS, Bullmore E, Keogh J, Gillard J, ORahilly S, Fletcher PC (2007) Leptin regulates striatal regions and human eating behavior. Science 317:1355.
-
(2007)
Science
, vol.317
, pp. 1355
-
-
Farooqi, I.S.1
Bullmore, E.2
Keogh, J.3
Gillard, J.4
Orahilly, S.5
Fletcher, P.C.6
-
19
-
-
46749099010
-
Leptin reverses weight lossinduced changes in regional neural activity responses to visual food stimuli
-
Rosenbaum M, Sy M, Pavlovich K, Leibel RL, Hirsch J (2008) Leptin reverses weight lossinduced changes in regional neural activity responses to visual food stimuli. J Clin Invest 118:2583-2591.
-
(2008)
J Clin Invest
, vol.118
, pp. 2583-2591
-
-
Rosenbaum, M.1
Sy, M.2
Pavlovich, K.3
Leibel, R.L.4
Hirsch, J.5
-
20
-
-
0242320429
-
Obesity due to proopiomelanocortin deficiency: Three new cases and treatment trials with thyroid hormone and ACTH4-10
-
Krude H, Biebermann H, Schnabel D et al (2003) Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10. J Clin Endocrinol Metab 88:4633-4640.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4633-4640
-
-
Krude, H.1
Biebermann, H.2
Schnabel, D.3
-
21
-
-
0037101841
-
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism
-
Challis BG, Pritchard LE, Creemers JW et al (2002) A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. Hum Mol Genet 11:1997-2004.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1997-2004
-
-
Challis, B.G.1
Pritchard, L.E.2
Creemers, J.W.3
-
22
-
-
33645048441
-
A POMC variant implicates beta-melanocytestimulating hormone in the control of human energy balance
-
Lee YS, Challis BG, Thompson DA et al (2006) A POMC variant implicates beta-melanocytestimulating hormone in the control of human energy balance. Cell Metab 3:135-140.
-
(2006)
Cell Metab
, vol.3
, pp. 135-140
-
-
Lee, Y.S.1
Challis, B.G.2
Thompson, D.A.3
-
23
-
-
80054752024
-
The proprotein convertases, 20 years later
-
Seidah NG (2011) The proprotein convertases, 20 years later. Methods Mol Biol 768:23-57.
-
(2011)
Methods Mol Biol
, vol.768
, pp. 23-57
-
-
Seidah, N.G.1
-
24
-
-
0030949271
-
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene [see comments]
-
Jackson RS, Creemers JW, Ohagi S et al (1997) Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene [see comments]. Nat Genet 16:303-306.
-
(1997)
Nat Genet
, vol.16
, pp. 303-306
-
-
Jackson, R.S.1
Creemers, J.W.2
Ohagi, S.3
-
25
-
-
0346096721
-
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency
-
Jackson RS, Creemers JW, Farooqi IS et al (2003) Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 112:1550-1560.
-
(2003)
J Clin Invest
, vol.112
, pp. 1550-1560
-
-
Jackson, R.S.1
Creemers, J.W.2
Farooqi, I.S.3
-
26
-
-
52749092130
-
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees
-
Stutzmann F, Tan K, Vatin V et al (2008) Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 57:2511-2518.
-
(2008)
Diabetes
, vol.57
, pp. 2511-2518
-
-
Stutzmann, F.1
Tan, K.2
Vatin, V.3
-
27
-
-
0037456768
-
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene
-
Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, ORahilly S (2003) Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 348:1085-1095.
-
(2003)
N Engl J Med
, vol.348
, pp. 1085-1095
-
-
Farooqi, I.S.1
Keogh, J.M.2
Yeo, G.S.3
Lank, E.J.4
Cheetham, T.5
Orahilly, S.6
-
28
-
-
78650912045
-
Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion
-
Martinelli CE, Keogh JM, Greenfield JR et al (2011) Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion. J Clin Endocrinol Metab 96:E181-E188.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. E181-E188
-
-
Martinelli, C.E.1
Keogh, J.M.2
Greenfield, J.R.3
-
29
-
-
58249087146
-
Modulation of blood pressure by central melanocortinergic pathways
-
Greenfield JR, Miller JW, Keogh JM et al (2009) Modulation of blood pressure by central melanocortinergic pathways. N Engl J Med 360:44-52.
-
(2009)
N Engl J Med
, vol.360
, pp. 44-52
-
-
Greenfield, J.R.1
Miller, J.W.2
Keogh, J.M.3
-
30
-
-
84861982757
-
Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery
-
Hatoum IJ, Stylopoulos N, Vanhoose AM et al (2012) Melanocortin-4 receptor signaling is required for weight loss after gastric bypass surgery. J Clin Endocrinol Metab 97:E1023-E1031.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1023-E1031
-
-
Hatoum, I.J.1
Stylopoulos, N.2
Vanhoose, A.M.3
-
31
-
-
84878569025
-
Genome-wide SNP and CNV analysis identifi es common and low-frequency variants associated with severe early-onset obesity
-
Wheeler E, Huang N, Bochukova EG et al (2013) Genome-wide SNP and CNV analysis identifi es common and low-frequency variants associated with severe early-onset obesity. Nat Genet 45:513-517.
-
(2013)
Nat Genet
, vol.45
, pp. 513-517
-
-
Wheeler, E.1
Huang, N.2
Bochukova, E.G.3
-
32
-
-
76349083132
-
Large, rare chromosomal deletions associated with severe early-onset obesity
-
Bochukova EG, Huang N, Keogh J et al (2010) Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 463:666-670.
-
(2010)
Nature
, vol.463
, pp. 666-670
-
-
Bochukova, E.G.1
Huang, N.2
Keogh, J.3
-
33
-
-
84870541022
-
Human SH2B1 mutations are associated with maladaptive behaviors and obesity
-
Doche ME, Bochukova EG, Su HW et al (2012) Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest 122:4732-4736.
-
(2012)
J Clin Invest
, vol.122
, pp. 4732-4736
-
-
Doche, M.E.1
Bochukova, E.G.2
Su, H.W.3
-
34
-
-
18744380999
-
Clinical practice. Overweight children and adolescents
-
Dietz WH, Robinson TN (2005) Clinical practice. Overweight children and adolescents. N Engl J Med 352:2100-2109.
-
(2005)
N Engl J Med
, vol.352
, pp. 2100-2109
-
-
Dietz, W.H.1
Robinson, T.N.2
|