-
1
-
-
84879410229
-
From obesity genetics to the future of personalized obesity therapy
-
El-Sayed Moustafa JS, Froguel P,. From obesity genetics to the future of personalized obesity therapy. Nat Rev Endocrinol 2013; 9: 402-413.
-
(2013)
Nat Rev Endocrinol
, vol.9
, pp. 402-413
-
-
El-Sayed Moustafa, J.S.1
Froguel, P.2
-
2
-
-
50449091503
-
The power of the extreme in elucidating obesity
-
Froguel P, Blakemore AI,. The power of the extreme in elucidating obesity. N Engl J Med 2008; 359: 891-893.
-
(2008)
N Engl J Med
, vol.359
, pp. 891-893
-
-
Froguel, P.1
Blakemore, A.I.2
-
3
-
-
17844401704
-
Anatomy and regulation of the central melanocortin system
-
Cone RD,. Anatomy and regulation of the central melanocortin system. Nat Neurosci 2005; 8: 571-578.
-
(2005)
Nat Neurosci
, vol.8
, pp. 571-578
-
-
Cone, R.D.1
-
4
-
-
0242523836
-
Leptin and melanocortin signaling in the hypothalamus
-
Bjorbaek C, Hollenberg AN,. Leptin and melanocortin signaling in the hypothalamus. Vitam Horm 2002; 65: 281-311.
-
(2002)
Vitam Horm
, vol.65
, pp. 281-311
-
-
Bjorbaek, C.1
Hollenberg, A.N.2
-
5
-
-
34548393531
-
Novel efficient methods for measuring mesophyll anatomical characteristics from fresh thick sections using stereology and confocal microscopy: Application on acid rain-treated Norway spruce needles
-
Albrechtova J, Janacek J, Lhotakova Z, Radochova B, Kubinova L,. Novel efficient methods for measuring mesophyll anatomical characteristics from fresh thick sections using stereology and confocal microscopy: application on acid rain-treated Norway spruce needles. J Exp Bot 2007; 58: 1451-1461.
-
(2007)
J Exp Bot
, vol.58
, pp. 1451-1461
-
-
Albrechtova, J.1
Janacek, J.2
Lhotakova, Z.3
Radochova, B.4
Kubinova, L.5
-
6
-
-
0344450708
-
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
-
Clement K, Vaisse C, Lahlou N, et al,. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature 1998; 392: 398-401.
-
(1998)
Nature
, vol.392
, pp. 398-401
-
-
Clement, K.1
Vaisse, C.2
Lahlou, N.3
-
7
-
-
33846409122
-
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor
-
Farooqi IS, Wangensteen T, Collins S, et al,. Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 2007; 356: 237-247.
-
(2007)
N Engl J Med
, vol.356
, pp. 237-247
-
-
Farooqi, I.S.1
Wangensteen, T.2
Collins, S.3
-
8
-
-
6344221594
-
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: Report of another case and evaluation of response to four years of leptin therapy
-
Gibson WT, Farooqi IS, Moreau M, et al,. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. J Clin Endocrinol Metab 2004; 89: 4821-4826.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4821-4826
-
-
Gibson, W.T.1
Farooqi, I.S.2
Moreau, M.3
-
9
-
-
84873623917
-
Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: Response to bariatric surgery
-
Le Beyec J, Cugnet-Anceau C, Pepin D, et al,. Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery. J Clin Endocrinol Metab 2013; 98: E397-E402.
-
(2013)
J Clin Endocrinol Metab
, vol.98
-
-
Le Beyec, J.1
Cugnet-Anceau, C.2
Pepin, D.3
-
10
-
-
67649908458
-
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
-
Mazen I, El-Gammal M, Abdel-Hamid M, Amr K,. A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient. Mol Genet Metab 2009; 97: 305-308.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 305-308
-
-
Mazen, I.1
El-Gammal, M.2
Abdel-Hamid, M.3
Amr, K.4
-
11
-
-
79952631516
-
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
-
Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K,. Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity. Mol Genet Metab 2011; 102: 461-464.
-
(2011)
Mol Genet Metab
, vol.102
, pp. 461-464
-
-
Mazen, I.1
El-Gammal, M.2
Abdel-Hamid, M.3
Farooqi, I.S.4
Amr, K.5
-
12
-
-
0030878110
-
Congenital leptin deficiency is associated with severe early-onset obesity in humans
-
Montague CT, Farooqi IS, Whitehead JP, et al,. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387: 903-908.
-
(1997)
Nature
, vol.387
, pp. 903-908
-
-
Montague, C.T.1
Farooqi, I.S.2
Whitehead, J.P.3
-
13
-
-
84860211766
-
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families
-
Saeed S, Butt TA, Anwer M, Arslan M, Froguel P,. High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. Mol Genet Metab 2012; 106: 121-126.
-
(2012)
Mol Genet Metab
, vol.106
, pp. 121-126
-
-
Saeed, S.1
Butt, T.A.2
Anwer, M.3
Arslan, M.4
Froguel, P.5
-
14
-
-
84895907503
-
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity
-
doi: 10.1002/oby.20492.
-
Gill R, Him Cheung Y, Shen Y, et al,. Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. Obesity (Silver Spring) 2013. doi: 10.1002/oby.20492.
-
(2013)
Obesity (Silver Spring)
-
-
Gill, R.1
Him Cheung, Y.2
Shen, Y.3
-
15
-
-
84891833262
-
The melanocortin system and insulin resistance in humans: Insights from a patient with complete POMC deficiency and type 1 diabetes mellitus
-
doi: 10.1038/ijo.2013.53.
-
Aslan IR, Ranadive SA, Valle I, Kollipara S, Noble JA, Vaisse C,. The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus. Int J Obes (Lond) 2013. doi: 10.1038/ijo.2013.53.
-
(2013)
Int J Obes (Lond)
-
-
Aslan, I.R.1
Ranadive, S.A.2
Valle, I.3
Kollipara, S.4
Noble, J.A.5
Vaisse, C.6
-
16
-
-
84882845778
-
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency
-
Frank GR, Fox J, Candela N, et al,. Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency. Mol Genet Metab 2013; 110: 191-194.
-
(2013)
Mol Genet Metab
, vol.110
, pp. 191-194
-
-
Frank, G.R.1
Fox, J.2
Candela, N.3
-
17
-
-
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,. Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 2008; 57: 2511-2518.
-
(2008)
Diabetes
, vol.57
, pp. 2511-2518
-
-
Stutzmann, F.1
Tan, K.2
Vatin, V.3
-
18
-
-
0037456768
-
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene
-
Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S,. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003; 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
O'Rahilly, S.6
-
19
-
-
0030039272
-
Abnormal splicing of the leptin receptor in diabetic mice
-
Lee GH, Proenca R, Montez JM, et al,. Abnormal splicing of the leptin receptor in diabetic mice. Nature 1996; 379: 632-635.
-
(1996)
Nature
, vol.379
, pp. 632-635
-
-
Lee, G.H.1
Proenca, R.2
Montez, J.M.3
-
20
-
-
0031761385
-
Expression of leptin receptor isoforms in rat brain microvessels
-
Bjorbaek C, Elmquist JK, Michl P, et al,. Expression of leptin receptor isoforms in rat brain microvessels. Endocrinology 1998; 139: 3485-3491.
-
(1998)
Endocrinology
, vol.139
, pp. 3485-3491
-
-
Bjorbaek, C.1
Elmquist, J.K.2
Michl, P.3
-
21
-
-
0030434655
-
Leptin and OB-R: Body weight regulation by a cytokine receptor
-
White DW, Tartaglia LA,. Leptin and OB-R: body weight regulation by a cytokine receptor. Cytokine Growth Factor Rev 1996; 7: 303-309.
-
(1996)
Cytokine Growth Factor Rev
, vol.7
, pp. 303-309
-
-
White, D.W.1
Tartaglia, L.A.2
-
22
-
-
0345168238
-
The role of leptin receptor signaling in feeding and neuroendocrine function
-
Bates SH, Myers MG,. The role of leptin receptor signaling in feeding and neuroendocrine function. Trends Endocrinol Metab 2003; 14: 447-452.
-
(2003)
Trends Endocrinol Metab
, vol.14
, pp. 447-452
-
-
Bates, S.H.1
Myers, M.G.2
-
23
-
-
0033861080
-
Soluble leptin receptor in serum of subjects with complete resistance to leptin: Relation to fat mass
-
Lahlou N, Clement K, Carel JC, et al,. Soluble leptin receptor in serum of subjects with complete resistance to leptin: relation to fat mass. Diabetes 2000; 49: 1347-1352.
-
(2000)
Diabetes
, vol.49
, pp. 1347-1352
-
-
Lahlou, N.1
Clement, K.2
Carel, J.C.3
-
24
-
-
84878569025
-
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
-
Wheeler E, Huang N, Bochukova EG, et al,. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet 2013; 45: 513-517.
-
(2013)
Nat Genet
, vol.45
, pp. 513-517
-
-
Wheeler, E.1
Huang, N.2
Bochukova, E.G.3
-
25
-
-
84893039682
-
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity, through one step PCR-based enrichment in combination with next-generation sequencing
-
doi: 10.2337/dc13-0698.
-
Bonnefond A, Philippe J, Durand E, et al,. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity, through one step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care 2013. doi: 10.2337/dc13-0698.
-
(2013)
Diabetes Care
-
-
Bonnefond, A.1
Philippe, J.2
Durand, E.3
-
26
-
-
0029791403
-
Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
-
Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S,. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996; 24: 3439-3452.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 3439-3452
-
-
Hebsgaard, S.M.1
Korning, P.G.2
Tolstrup, N.3
Engelbrecht, J.4
Rouze, P.5
Brunak, S.6
-
27
-
-
66249120367
-
Human Splicing Finder: An online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C,. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Beroud, C.6
-
28
-
-
84875550381
-
Prediction of mutant mRNA splice isoforms by information theory-based exon definition
-
Mucaki EJ, Shirley BC, Rogan PK,. Prediction of mutant mRNA splice isoforms by information theory-based exon definition. Hum Mutat 2013; 34: 557-565.
-
(2013)
Hum Mutat
, vol.34
, pp. 557-565
-
-
Mucaki, E.J.1
Shirley, B.C.2
Rogan, P.K.3
-
29
-
-
67649793700
-
The genetic contribution to non-syndromic human obesity
-
Walley AJ, Asher JE, Froguel P,. The genetic contribution to non-syndromic human obesity. Nat Rev Genet 2009; 10: 431-442.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 431-442
-
-
Walley, A.J.1
Asher, J.E.2
Froguel, P.3
-
30
-
-
0014004384
-
Diabetes, a new mutation in the mouse
-
Hummel KP, Dickie MM, Coleman DL,. Diabetes, a new mutation in the mouse. Science 1966; 153: 1127-1128.
-
(1966)
Science
, vol.153
, pp. 1127-1128
-
-
Hummel, K.P.1
Dickie, M.M.2
Coleman, D.L.3
-
32
-
-
78650315390
-
Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine
-
Blakemore AI, Froguel P,. Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine. Ann N Y Acad Sci 2010; 1214: 180-189.
-
(2010)
Ann N y Acad Sci
, vol.1214
, pp. 180-189
-
-
Blakemore, A.I.1
Froguel, P.2
|