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Items: 1 to 20 of 118

1.

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
2.

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
3.

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.

4.

[Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population].

Zakel UA, Wudy SA, Heinzel-Gutenbrunner M, Görg T, Schäfer H, Gortner L, Blum WF, Hebebrand J, Hinney A.

Klin Padiatr. 2005 Jul-Aug;217(4):244-9. German.

PMID:
16032553
5.

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.

PMID:
17579204
6.

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

Dubern B, Clément K, Pelloux V, Froguel P, Girardet JP, Guy-Grand B, Tounian P.

J Pediatr. 2001 Aug;139(2):204-9.

PMID:
11487744
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.

PMID:
16492696
8.

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
9.

Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations.

Miraglia del Giudice E, Cirillo G, Santoro N, D'Urso L, Carbone MT, Di Toro R, Perrone L.

Int J Obes Relat Metab Disord. 2001 Jan;25(1):61-7.

PMID:
11244459
10.

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
11.

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.

Roth CL, Ludwig M, Woelfle J, Fan ZC, Brumm H, Biebermann H, Tao YX.

Endocrine. 2009 Aug;36(1):52-9. doi: 10.1007/s12020-009-9156-4.

PMID:
19214805
12.

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.

PMID:
16507637
13.

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
14.

Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.

Buono P, Pasanisi F, Nardelli C, Ieno L, Capone S, Liguori R, Finelli C, Oriani G, Contaldo F, Sacchetti L.

Clin Chem. 2005 Aug;51(8):1358-64.

15.

Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.

Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L.

Exp Clin Endocrinol Diabetes. 2009 Jun;117(6):266-73. doi: 10.1055/s-0028-1102942.

PMID:
19301229
16.

Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index.

Nowacka-Woszuk J, Cieslak J, Skowronska B, Majewska KA, Stankiewicz W, Fichna P, Switonski M.

J Appl Genet. 2011 Aug;52(3):319-23. doi: 10.1007/s13353-011-0036-2.

17.

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
18.

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.

Dubern B, Bisbis S, Talbaoui H, Le Beyec J, Tounian P, Lacorte JM, Clément K.

J Pediatr. 2007 Jun;150(6):613-7, 617.e1.

PMID:
17517245
19.

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
20.

Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study.

Wannaiampikul S, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Santiprabhob J, Tungtrongchitr R.

Genet Mol Res. 2015 Dec 22;14(4):18090-102. doi: 10.4238/2015.December.22.35.

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