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Items: 1 to 20 of 21

1.

Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes.

Barón AE, Asdigian NL, Gonzalez V, Aalborg J, Terzian T, Stiegmann RA, Torchia EC, Berwick M, Dellavalle RP, Morelli JG, Mokrohisky ST, Crane LA, Box NF.

Cancer Epidemiol Biomarkers Prev. 2014 Dec;23(12):2829-39. doi: 10.1158/1055-9965.EPI-14-0633.

2.

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH, Benfodda M, Dumaz N, Gazal S, Descamps V, Bourillon A, Basset-Seguin N, Riffault A, Ezzedine K, Bagot M, Bensussan A, Saiag P, Grandchamp B, Soufir N.

Biomed Res Int. 2014;2014:925716. doi: 10.1155/2014/925716. Epub 2014 Apr 10.

3.

Management of melanoma families.

Bergman W, Gruis NA.

Cancers (Basel). 2010 Apr 16;2(2):549-66. doi: 10.3390/cancers2020549.

4.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E.

Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022.

5.

Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation: case report.

Rojek A, Niedziela M.

Arch Med Sci. 2013 Aug 30;9(4):761-4. doi: 10.5114/aoms.2012.32791. Epub 2013 Feb 28. No abstract available.

6.

The etiology and molecular genetics of human pigmentation disorders.

Baxter LL, Pavan WJ.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):379-92. doi: 10.1002/wdev.72. Epub 2012 May 17. Review.

7.

Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population.

Peña-Chilet M, Blanquer-Maceiras M, Ibarrola-Villava M, Martinez-Cadenas C, Martin-Gonzalez M, Gomez-Fernandez C, Mayor M, Aviles JA, Lluch A, Ribas G.

BMC Cancer. 2013 Mar 27;13:160. doi: 10.1186/1471-2407-13-160.

8.

Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Stefanaki I, Panagiotou OA, Kodela E, Gogas H, Kypreou KP, Chatzinasiou F, Nikolaou V, Plaka M, Kalfa I, Antoniou C, Ioannidis JP, Evangelou E, Stratigos AJ.

PLoS One. 2013;8(2):e55712. doi: 10.1371/journal.pone.0055712. Epub 2013 Feb 5.

9.

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

Puntervoll HE, Yang XR, Vetti HH, Bachmann IM, Avril MF, Benfodda M, Catricalà C, Dalle S, Duval-Modeste AB, Ghiorzo P, Grammatico P, Harland M, Hayward NK, Hu HH, Jouary T, Martin-Denavit T, Ozola A, Palmer JM, Pastorino L, Pjanova D, Soufir N, Steine SJ, Stratigos AJ, Thomas L, Tinat J, Tsao H, Veinalde R, Tucker MA, Bressac-de Paillerets B, Newton-Bishop JA, Goldstein AM, Akslen LA, Molven A.

J Med Genet. 2013 Apr;50(4):264-70. doi: 10.1136/jmedgenet-2012-101455. Epub 2013 Feb 5. Erratum in: J Med Genet. 2014 Mar;51(3):214.

10.

Men's preference for women's facial features: testing homogamy and the paternity uncertainty hypothesis.

Bovet J, Barthes J, Durand V, Raymond M, Alvergne A.

PLoS One. 2012;7(11):e49791. doi: 10.1371/journal.pone.0049791. Epub 2012 Nov 21.

11.

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies.

Raimondi S, Gandini S, Fargnoli MC, Bagnardi V, Maisonneuve P, Specchia C, Kumar R, Nagore E, Han J, Hansson J, Kanetsky PA, Ghiorzo P, Gruis NA, Dwyer T, Blizzard L, Fernandez-de-Misa R, Branicki W, Debniak T, Morling N, Landi MT, Palmieri G, Ribas G, Stratigos A, Cornelius L, Motokawa T, Anno S, Helsing P, Wong TH, Autier P, García-Borrón JC, Little J, Newton-Bishop J, Sera F, Liu F, Kayser M, Nijsten T; GEM Study Group.; M-SKIP Study Group..

BMC Med Res Methodol. 2012 Aug 3;12:116. doi: 10.1186/1471-2288-12-116.

12.

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.

Kinsler VA, Abu-Amero S, Budd P, Jackson IJ, Ring SM, Northstone K, Atherton DJ, Bulstrode NW, Stanier P, Hennekam RC, Sebire NJ, Moore GE, Healy E.

J Invest Dermatol. 2012 Aug;132(8):2026-32. doi: 10.1038/jid.2012.95. Epub 2012 May 10.

13.

"patients can have as many gene variants as they damn well please": why contemporary genetics presents us daily with a version of Hickam's dictum.

Stratakis CA.

J Clin Endocrinol Metab. 2012 May;97(5):E802-4. doi: 10.1210/jc.2012-1650. No abstract available.

14.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V.

Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.

15.

The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin.

Whiteman DC, Pavan WJ, Bastian BC.

Pigment Cell Melanoma Res. 2011 Oct;24(5):879-97. doi: 10.1111/j.1755-148X.2011.00880.x. Epub 2011 Aug 16. Review.

17.

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Savage SA, Gerstenblith MR, Goldstein AM, Mirabello L, Fargnoli MC, Peris K, Landi MT.

BMC Genet. 2008 Apr 10;9:31. doi: 10.1186/1471-2156-9-31.

18.
19.

The genetics of sun sensitivity in humans.

Rees JL.

Am J Hum Genet. 2004 Nov;75(5):739-51. Epub 2004 Sep 15. Review.

20.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Soufir N, Lacapere JJ, Bertrand G, Matichard E, Meziani R, Mirebeau D, Descamps V, Gérard B, Archimbaud A, Ollivaud L, Bouscarat F, Baccard M, Lanternier G, Saïag P, Lebbé C, Basset-Seguin N, Crickx B, Cave H, Grandchamp B.

Br J Cancer. 2004 Jan 26;90(2):503-9.

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