-
1
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
COI: 1:CAS:528:DC%2BD3cXmt1eqsQ%3D%3D, PID: 10587585
-
H. Cao, R.A. Hegele, Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9, 109–112 (2000)
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
2
-
-
0033599038
-
Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension
-
COI: 1:CAS:528:DC%2BD3cXitFSltw%3D%3D, PID: 10622252
-
I. Barroso, M. Gurnell, V.E. Crowley, M. Agostini, J.W. Schwabe, M.A. Soos et al., Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402, 880–883 (1999)
-
(1999)
Nature
, vol.402
, pp. 880-883
-
-
Barroso, I.1
Gurnell, M.2
Crowley, V.E.3
Agostini, M.4
Schwabe, J.W.5
Soos, M.A.6
-
3
-
-
0036146384
-
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy
-
COI: 1:CAS:528:DC%2BD38XntVyrug%3D%3D, PID: 11788685
-
A.K. Agarwal, A. Garg, A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J. Clin. Endocrinol. Metab. 87, 408–411 (2002)
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 408-411
-
-
Agarwal, A.K.1
Garg, A.2
-
4
-
-
33847410199
-
Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes
-
COI: 1:CAS:528:DC%2BD2sXis12itL4%3D, PID: 17327441
-
K. Tan, W.A. Kimber, J. Luan, M.A. Soos, R.K. Semple, N.J. Wareham, S. O’Rahilly, I. Barroso, Analysis of genetic variation in Akt2/PKB-beta in severe insulin resistance, lipodystrophy, type 2 diabetes, and related metabolic phenotypes. Diabetes 56, 714–719 (2007)
-
(2007)
Diabetes
, vol.56
, pp. 714-719
-
-
Tan, K.1
Kimber, W.A.2
Luan, J.3
Soos, M.A.4
Semple, R.K.5
Wareham, N.J.6
O’Rahilly, S.7
Barroso, I.8
-
5
-
-
70450220107
-
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC
-
COI: 1:CAS:528:DC%2BD1MXht1CjurvM, PID: 20049731
-
O. Rubio-Cabezas, V. Puri, I. Murano, V. Saudek, R.K. Semple, S. Dash et al., Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. Embo. Mol. Med. 1, 280–287 (2009)
-
(2009)
Embo. Mol. Med.
, vol.1
, pp. 280-287
-
-
Rubio-Cabezas, O.1
Puri, V.2
Murano, I.3
Saudek, V.4
Semple, R.K.5
Dash, S.6
-
6
-
-
79952000272
-
Perilipin deficiency and autosomal dominant partial lipodystrophy
-
COI: 1:CAS:528:DC%2BC3MXis1ymsbo%3D, PID: 21345103
-
S. Gandotra, C. Le Dour, W. Bottomley, P. Cervera, P. Giral, Y. Reznik et al., Perilipin deficiency and autosomal dominant partial lipodystrophy. N. Engl. J. Med. 364, 740–748 (2011)
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 740-748
-
-
Gandotra, S.1
Le Dour, C.2
Bottomley, W.3
Cervera, P.4
Giral, P.5
Reznik, Y.6
-
7
-
-
84919711918
-
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
-
PID: 25475467
-
S.M. Farhan, J.F. Robinson, A.D. McIntyre, M.G. Marrosu, A.F. Ticca, S. Loddo et al., A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. Can. J. Cardiol. 30, 1649–1654 (2014)
-
(2014)
Can. J. Cardiol.
, vol.30
, pp. 1649-1654
-
-
Farhan, S.M.1
Robinson, J.F.2
McIntyre, A.D.3
Marrosu, M.G.4
Ticca, A.F.5
Loddo, S.6
-
8
-
-
0041668112
-
Kobberling type of familial partial lipodystrophy: an underrecognized syndrome
-
PID: 12766116
-
K.L. Herbst, L.R. Tannock, S.S. Deeb, J.Q. Purnell, J.D. Brunzell, A. Chait, Kobberling type of familial partial lipodystrophy: an underrecognized syndrome. Diabetes Care 26, 1819–1824 (2003)
-
(2003)
Diabetes Care
, vol.26
, pp. 1819-1824
-
-
Herbst, K.L.1
Tannock, L.R.2
Deeb, S.S.3
Purnell, J.Q.4
Brunzell, J.D.5
Chait, A.6
-
9
-
-
0032959251
-
Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
-
COI: 1:CAS:528:DyaK1MXmslWltQ%3D%3D, PID: 9920078
-
A. Garg, R.M. Peshock, J.L. Fleckenstein, Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J. Clin. Endocrinol. Metab. 84, 170–174 (1999)
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 170-174
-
-
Garg, A.1
Peshock, R.M.2
Fleckenstein, J.L.3
-
10
-
-
68749100675
-
Sexual dimorphism in body fat distribution and risk for cardiovascular diseases
-
PID: 20560019
-
T.P. Nedungadi, D.J. Clegg, Sexual dimorphism in body fat distribution and risk for cardiovascular diseases. J. Cardiovasc. Transl. Res. 2, 321–327 (2009)
-
(2009)
J. Cardiovasc. Transl. Res.
, vol.2
, pp. 321-327
-
-
Nedungadi, T.P.1
Clegg, D.J.2
-
11
-
-
29344441009
-
Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?
-
COI: 1:STN:280:DC%2BD2MnmvFamtw%3D%3D
-
B. Donadille, O. Lascols, J. Capeau, C. Vigouroux, Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations? Diabetes & Metabolism 31, 527–532 (2005)
-
(2005)
Diabetes & Metabolism
, vol.31
, pp. 527-532
-
-
Donadille, B.1
Lascols, O.2
Capeau, J.3
Vigouroux, C.4
-
12
-
-
0037253150
-
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation
-
COI: 1:CAS:528:DC%2BD3sXislOmtL0%3D, PID: 12669268
-
D. Araujo-Vilar, L. Loidi, F. Dominguez, J. Cabezas-Cerrato, Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation. Horm. Metab. Res. 35, 29–35 (2003)
-
(2003)
Horm. Metab. Res.
, vol.35
, pp. 29-35
-
-
Araujo-Vilar, D.1
Loidi, L.2
Dominguez, F.3
Cabezas-Cerrato, J.4
-
13
-
-
0034074434
-
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
-
COI: 1:CAS:528:DC%2BD3cXjsFegtLk%3D, PID: 10810087
-
R.A. Hegele, C.M. Anderson, J. Wang, D.C. Jones, H. Cao, Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. Genome Res. 10, 652–658 (2000)
-
(2000)
Genome Res.
, vol.10
, pp. 652-658
-
-
Hegele, R.A.1
Anderson, C.M.2
Wang, J.3
Jones, D.C.4
Cao, H.5
-
14
-
-
0034455698
-
Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
-
COI: 1:CAS:528:DC%2BD3cXlt1Wls74%3D, PID: 10843151
-
A. Garg, Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J. Clin. Endocrinol. Metab. 85, 1776–1782 (2000)
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 1776-1782
-
-
Garg, A.1
-
15
-
-
84883282498
-
Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction
-
COI: 1:CAS:528:DC%2BC3sXht1OqsbbK, PID: 23846499
-
G. Bidault, M. Garcia, M.C. Vantyghem, P.H. Ducluzeau, R. Morichon, K. Thiyagarajah et al., Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction. Arterioscler. Thromb. Vasc. Biol. 33, 2162–2171 (2013)
-
(2013)
Arterioscler. Thromb. Vasc. Biol.
, vol.33
, pp. 2162-2171
-
-
Bidault, G.1
Garcia, M.2
Vantyghem, M.C.3
Ducluzeau, P.H.4
Morichon, R.5
Thiyagarajah, K.6
-
16
-
-
45349087575
-
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy
-
COI: 1:CAS:528:DC%2BD1cXntFamt7g%3D, PID: 18364375
-
M.C. Vantyghem, D. Vincent-Desplanques, F. Defrance-Faivre, J. Capeau, C. Fermon, A.S. Valat et al., Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. J. Clin. Endocrinol. Metab. 93, 2223–2229 (2008)
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 2223-2229
-
-
Vantyghem, M.C.1
Vincent-Desplanques, D.2
Defrance-Faivre, F.3
Capeau, J.4
Fermon, C.5
Valat, A.S.6
-
17
-
-
34548215169
-
Abdominal adiposity and the polycystic ovary syndrome
-
COI: 1:CAS:528:DC%2BD2sXpvFGksro%3D, PID: 17693095
-
H.F. Escobar-Morreale, J.L. San Millan, Abdominal adiposity and the polycystic ovary syndrome. Trends. Endocrinol. Metab. 18, 266–272 (2007)
-
(2007)
Trends. Endocrinol. Metab.
, vol.18
, pp. 266-272
-
-
Escobar-Morreale, H.F.1
San Millan, J.L.2
-
18
-
-
0015979147
-
Familial lipoatrophic diabetes with dominant transmission. A new syndrome
-
COI: 1:STN:280:DyaE2c7ksV2guw%3D%3D, PID: 4362786
-
M.G. Dunnigan, M.A. Cochrane, A. Kelly, J.W. Scott, Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q. J. Med. 43, 33–48 (1974)
-
(1974)
Q. J. Med
, vol.43
, pp. 33-48
-
-
Dunnigan, M.G.1
Cochrane, M.A.2
Kelly, A.3
Scott, J.W.4
-
19
-
-
0016702194
-
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes
-
COI: 1:STN:280:DyaE28%2FitlyrtQ%3D%3D, PID: 170190
-
J. Kobberling, B. Willms, R. Kattermann, W. Creutzfeldt, Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik 29, 111–120 (1975)
-
(1975)
Humangenetik
, vol.29
, pp. 111-120
-
-
Kobberling, J.1
Willms, B.2
Kattermann, R.3
Creutzfeldt, W.4
-
20
-
-
0022593193
-
Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state
-
COI: 1:STN:280:DyaL283islCjtw%3D%3D, PID: 3712389
-
J. Kobberling, M.G. Dunnigan, Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J. Med. Genet. 23, 120–127 (1986)
-
(1986)
J. Med. Genet.
, vol.23
, pp. 120-127
-
-
Kobberling, J.1
Dunnigan, M.G.2
-
21
-
-
0031028991
-
Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy
-
COI: 1:STN:280:DyaK2s3kslCmuw%3D%3D
-
S.N. Jackson, T.A. Howlett, P.G. McNally, S. O’Rahilly, R.C. Trembath, Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. Q. J. Med. 90, 27–36 (1997)
-
(1997)
Q. J. Med.
, vol.90
, pp. 27-36
-
-
Jackson, S.N.1
Howlett, T.A.2
McNally, P.G.3
O’Rahilly, S.4
Trembath, R.C.5
-
22
-
-
0029151905
-
Estimating intraabdominal adipose tissue in women by dual-energy X-ray absorptiometry
-
COI: 1:STN:280:DyaK2MzptVWqtA%3D%3D, PID: 7661113
-
M.S. Treuth, G.R. Hunter, T. Kekes-Szabo, Estimating intraabdominal adipose tissue in women by dual-energy X-ray absorptiometry. Am. J. Clin. Nutr. 62, 527–32 (1995)
-
(1995)
Am. J. Clin. Nutr.
, vol.62
, pp. 527-532
-
-
Treuth, M.S.1
Hunter, G.R.2
Kekes-Szabo, T.3
-
23
-
-
0003903343
-
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
J. Sambrook, E.F. Fritsch, T. Maniatis, Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY (1990)
-
(1990)
Molecular cloning: a laboratory manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
24
-
-
0031737373
-
Correct homeostasis model assessment (HOMA) evaluation uses the computer program
-
COI: 1:STN:280:DyaK1M%2Fls1CqtA%3D%3D, PID: 9839117
-
J.C. Levy, D.R. Matthews, M.P. Hermans, Correct homeostasis model assessment (HOMA) evaluation uses the computer program. Diabetes Care 21, 2191–2192 (1998)
-
(1998)
Diabetes Care
, vol.21
, pp. 2191-2192
-
-
Levy, J.C.1
Matthews, D.R.2
Hermans, M.P.3
-
25
-
-
0003508724
-
-
John Wiley & Sons, New York, NY
-
D.W. Hosmer, S. Lemeshow, E. Cook, Applied Logistic Regression. 2nd ed. John Wiley & Sons, New York, NY (2000)
-
(2000)
Applied Logistic Regression
-
-
Hosmer, D.W.1
Lemeshow, S.2
Cook, E.3
-
26
-
-
84977559468
-
A novel cutoff for the waist-to-height ratio predicting metabolic syndrome in young American adults
-
PID: 27036488
-
A.D. Bohr, K. Laurson, M.B. McQueen, A novel cutoff for the waist-to-height ratio predicting metabolic syndrome in young American adults. BMC Public Health 16, 295 (2016)
-
(2016)
BMC Public Health
, vol.16
, pp. 295
-
-
Bohr, A.D.1
Laurson, K.2
McQueen, M.B.3
-
27
-
-
0038811794
-
Associations of hip and thigh circumferences independent of waist circumference with the incidence of type 2 diabetes: the Hoorn Study
-
COI: 1:CAS:528:DC%2BD3sXntlamsbk%3D, PID: 12716671
-
M.B. Snijder, J.M. Dekker, M. Visser, L.M. Bouter, C.D. Stehouwer, P.J. Kostense et al., Associations of hip and thigh circumferences independent of waist circumference with the incidence of type 2 diabetes: the Hoorn Study. Am. J. Clin. Nutr. 77, 1192–1197 (2003)
-
(2003)
Am. J. Clin. Nutr.
, vol.77
, pp. 1192-1197
-
-
Snijder, M.B.1
Dekker, J.M.2
Visser, M.3
Bouter, L.M.4
Stehouwer, C.D.5
Kostense, P.J.6
-
28
-
-
27644457743
-
Obesity and the risk of myocardial infarction in 27,000 participants from 52 countries: a case-control study
-
PID: 16271645
-
S. Yusuf, S. Hawken, S. Ounpuu, L. Bautista, M.G. Franzosi, P. Commerford et al., Obesity and the risk of myocardial infarction in 27,000 participants from 52 countries: a case-control study. Lancet 366, 1640–1649 (2005)
-
(2005)
Lancet
, vol.366
, pp. 1640-1649
-
-
Yusuf, S.1
Hawken, S.2
Ounpuu, S.3
Bautista, L.4
Franzosi, M.G.5
Commerford, P.6
|