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Results: 1 to 20 of 116

1.

Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.

Santini F, Maffei M, Ceccarini G, Pelosini C, Scartabelli G, Rosellini V, Chiellini C, Marsili A, Lisi S, Tonacchera M, Agretti P, Chiovato L, Mammoli C, Vitti P, Pinchera A.

J Clin Endocrinol Metab. 2004 Feb;89(2):904-8.

PMID:
14764812
[PubMed - indexed for MEDLINE]
2.

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

Hinney A, Schmidt A, Nottebom K, Heibült O, Becker I, Ziegler A, Gerber G, Sina M, Görg T, Mayer H, Siegfried W, Fichter M, Remschmidt H, Hebebrand J.

J Clin Endocrinol Metab. 1999 Apr;84(4):1483-6.

PMID:
10199800
[PubMed - indexed for MEDLINE]
3.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.

PMID:
17286227
[PubMed - indexed for MEDLINE]
4.

Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.

Rong R, Tao YX, Cheung BM, Xu A, Cheung GC, Lam KS.

Clin Endocrinol (Oxf). 2006 Aug;65(2):198-205.

PMID:
16886960
[PubMed - indexed for MEDLINE]
5.

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.

Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P.

J Clin Invest. 2000 Jul;106(2):253-62.

PMID:
10903341
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.

Marti A, Corbalán MS, Forga L, Martinez JA, Hinney A, Hebebrand J.

Int J Obes Relat Metab Disord. 2003 Mar;27(3):385-8.

PMID:
12629567
[PubMed - indexed for MEDLINE]
7.

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

Hinney A, Bettecken T, Tarnow P, Brumm H, Reichwald K, Lichtner P, Scherag A, Nguyen TT, Schlumberger P, Rief W, Vollmert C, Illig T, Wichmann HE, Schäfer H, Platzer M, Biebermann H, Meitinger T, Hebebrand J.

J Clin Endocrinol Metab. 2006 May;91(5):1761-9. Epub 2006 Feb 21.

PMID:
16492696
[PubMed - indexed for MEDLINE]
8.

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

Valli-Jaakola K, Lipsanen-Nyman M, Oksanen L, Hollenberg AN, Kontula K, Bjørbaek C, Schalin-Jäntti C.

J Clin Endocrinol Metab. 2004 Feb;89(2):940-5.

PMID:
14764818
[PubMed - indexed for MEDLINE]
9.

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

Lubrano-Berthelier C, Dubern B, Lacorte JM, Picard F, Shapiro A, Zhang S, Bertrais S, Hercberg S, Basdevant A, Clement K, Vaisse C.

J Clin Endocrinol Metab. 2006 May;91(5):1811-8. Epub 2006 Feb 28.

PMID:
16507637
[PubMed - indexed for MEDLINE]
10.

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

Hainerová I, Larsen LH, Holst B, Finková M, Hainer V, Lebl J, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2007 Sep;92(9):3689-96. Epub 2007 Jun 19.

PMID:
17579204
[PubMed - indexed for MEDLINE]
11.

Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents.

Wang CL, Liang L, Wang HJ, Fu JF, Hebebrand J, Hinney A.

J Endocrinol Invest. 2006 Nov;29(10):894-8.

PMID:
17185898
[PubMed - indexed for MEDLINE]
12.

Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.

Jacobson P, Ukkola O, Rankinen T, Snyder EE, Leon AS, Rao DC, Skinner JS, Wilmore JH, Lönn L, Cowan GS Jr, Sjöström L, Bouchard C.

J Clin Endocrinol Metab. 2002 Oct;87(10):4442-6.

PMID:
12364415
[PubMed - indexed for MEDLINE]
13.

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.

Miraglia Del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P, Cozzolino D, Scafato D, Perrone L.

Int J Obes Relat Metab Disord. 2002 May;26(5):647-51.

PMID:
12032748
[PubMed - indexed for MEDLINE]
14.

Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.

Santoro N, Cirillo G, Xiang Z, Tanas R, Greggio N, Morino G, Iughetti L, Vottero A, Salvatoni A, Di Pietro M, Balsamo A, Crinò A, Grandone A, Haskell-Luevano C, Perrone L, del Giudice EM.

BMC Med Genet. 2009 Mar 12;10:25. doi: 10.1186/1471-2350-10-25.

PMID:
19284607
[PubMed - indexed for MEDLINE]
Free PMC Article
15.
16.

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.

Ochoa MC, Azcona C, Biebermann H, Brumm H, Razquin C, Wermter AK, Martínez JA, Hebebrand J, Hinney A, Moreno-Aliaga MJ, Marti A, Patiño A, Chueca M, Oyarzabal M, Pelach R; Grupo de Estudio Navarro de la Obesidad Infantil (GENOI).

Clin Endocrinol (Oxf). 2007 May;66(5):652-8.

PMID:
17492953
[PubMed - indexed for MEDLINE]
17.

Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.

Rouskas K, Meyre D, Stutzmann F, Paletas K, Papazoglou D, Vatin V, Marchand M, Kouvatsi A, Froguel P.

Obesity (Silver Spring). 2012 Nov;20(11):2278-82. doi: 10.1038/oby.2012.77. Epub 2012 Mar 26.

PMID:
22447289
[PubMed - indexed for MEDLINE]
18.

Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese.

Fang QC, Jia WP, Cai SB, Shao XY, Zhang R, Wang CR, Bao YQ, Xiang KS.

Biomed Environ Sci. 2008 Aug;21(4):280-5. doi: 10.1016/S0895-3988(08)60042-2.

PMID:
18837289
[PubMed - indexed for MEDLINE]
19.

Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

Beckers S, Zegers D, de Freitas F, Peeters AV, Verhulst SL, Massa G, Van Gaal LF, Timmermans JP, Desager KN, Van Hul W.

Obes Facts. 2010 Oct;3(5):304-11. doi: 10.1159/000321565. Epub 2010 Oct 15.

PMID:
20975296
[PubMed - indexed for MEDLINE]
20.

Identification and functional analysis of novel human melanocortin-4 receptor variants.

Gu W, Tu Z, Kleyn PW, Kissebah A, Duprat L, Lee J, Chin W, Maruti S, Deng N, Fisher SL, Franco LS, Burn P, Yagaloff KA, Nathan J, Heymsfield S, Albu J, Pi-Sunyer FX, Allison DB.

Diabetes. 1999 Mar;48(3):635-9.

PMID:
10078568
[PubMed - indexed for MEDLINE]
Free Article

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