-
1
-
-
77955750070
-
Epidemiología del melanoma en España
-
Saenz S. Epidemiología del melanoma en España. Actas dermosifiliogr 2005, 96:7.
-
(2005)
Actas dermosifiliogr
, vol.96
, pp. 7
-
-
Saenz, S.1
-
2
-
-
0038122762
-
Genetic epidemiology of melanoma
-
Bataille V. Genetic epidemiology of melanoma. Eur J Cancer 2003, 39:1341-1347.
-
(2003)
Eur J Cancer
, vol.39
, pp. 1341-1347
-
-
Bataille, V.1
-
4
-
-
6344290128
-
The genetics of sun sensitivity in humans
-
Rees J L. The genetics of sun sensitivity in humans. Am J Hum Genet 2004, 75:739-751.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 739-751
-
-
Rees, J.L.1
-
6
-
-
0034671754
-
CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas
-
Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J. CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. Cancer Res 2000, 60:6864-6867.
-
(2000)
Cancer Res
, vol.60
, pp. 6864-6867
-
-
Hashemi, J.1
Platz, A.2
Ueno, T.3
Stierner, U.4
Ringborg, U.5
Hansson, J.6
-
7
-
-
0033518889
-
CDKN2A variants in a population-based sample of Queensland families with melanoma
-
Aitken J, Welch J, Duffy D. CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst 1999, 91:446-452.
-
(1999)
J Natl Cancer Inst
, vol.91
, pp. 446-452
-
-
Aitken, J.1
Welch, J.2
Duffy, D.3
-
8
-
-
0035923248
-
A single nucleotide polymorphism in the 3′untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare
-
Kumar R, Smeds J, Berggren P. A single nucleotide polymorphism in the 3′untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer 2001, 95:388-393.
-
(2001)
Int J Cancer
, vol.95
, pp. 388-393
-
-
Kumar, R.1
Smeds, J.2
Berggren, P.3
-
9
-
-
0036313607
-
Significant impact of promoter hypermethylation and the 540 C>T polymorphism of CDKN2A in cutaneous melanoma of the vertical growth phase
-
Straume O, Smeds J, Kumar R, Hemminki K, Akslen L A. Significant impact of promoter hypermethylation and the 540 C>T polymorphism of CDKN2A in cutaneous melanoma of the vertical growth phase. Am J Pathol 2002, 161:229-237.
-
(2002)
Am J Pathol
, vol.161
, pp. 229-237
-
-
Straume, O.1
Smeds, J.2
Kumar, R.3
Hemminki, K.4
Akslen, L.A.5
-
10
-
-
25144523360
-
The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation
-
Wong T H, Rees J L. The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation. Peptides 2005, 26:1965-1971.
-
(2005)
Peptides
, vol.26
, pp. 1965-1971
-
-
Wong, T.H.1
Rees, J.L.2
-
11
-
-
0035904403
-
Human pigmentation genes: identification, structure and consequences of polymorphic variation
-
Sturm R A, Teasdale R D, Box N F. Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene 2001, 277:49-62.
-
(2001)
Gene
, vol.277
, pp. 49-62
-
-
Sturm, R.A.1
Teasdale, R.D.2
Box, N.F.3
-
12
-
-
34247647905
-
Comprehensive evaluation of allele frequency differences of MC1R variants across populations
-
Gerstenblith M R, Goldstein A M, Fargnoli M C, Peris K, Landi M T. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat 2007, 28:495-505.
-
(2007)
Hum Mutat
, vol.28
, pp. 495-505
-
-
Gerstenblith, M.R.1
Goldstein, A.M.2
Fargnoli, M.C.3
Peris, K.4
Landi, M.T.5
-
13
-
-
0035068231
-
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
-
Bastiaens M T, ter Huurne J A, Kielich C. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet 2001, 68:884-894.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 884-894
-
-
Bastiaens, M.T.1
ter Huurne, J.A.2
Kielich, C.3
-
14
-
-
7144254441
-
Melanocortin 1 receptor variants in an Irish population
-
Smith R, Healy E, Siddiqui S. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 1998, 111:119-122.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 119-122
-
-
Smith, R.1
Healy, E.2
Siddiqui, S.3
-
15
-
-
0028786945
-
Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
-
Valverde P, Healy E, Jackson I, Rees J L, Thody A J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995, 11:328-330.
-
(1995)
Nat Genet
, vol.11
, pp. 328-330
-
-
Valverde, P.1
Healy, E.2
Jackson, I.3
Rees, J.L.4
Thody, A.J.5
-
16
-
-
17644432720
-
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure
-
Matichard E, Verpillat P, Meziani R. Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet 2004, 41:e13.
-
(2004)
J Med Genet
, vol.41
-
-
Matichard, E.1
Verpillat, P.2
Meziani, R.3
-
17
-
-
33746121511
-
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population
-
Stratigos A J, Dimisianos G, Nikolaou V. Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. J Invest Dermatol 2006, 126:1842-1849.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1842-1849
-
-
Stratigos, A.J.1
Dimisianos, G.2
Nikolaou, V.3
-
18
-
-
34548135234
-
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population
-
Fernandez L, Milne R, Bravo J. MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. Carcinogenesis 2007, 28:1659-1664.
-
(2007)
Carcinogenesis
, vol.28
, pp. 1659-1664
-
-
Fernandez, L.1
Milne, R.2
Bravo, J.3
-
19
-
-
33847188116
-
Melanocyte biology and skin pigmentation
-
Lin J Y, Fisher D E. Melanocyte biology and skin pigmentation. Nature 2007, 445:843-850.
-
(2007)
Nature
, vol.445
, pp. 843-850
-
-
Lin, J.Y.1
Fisher, D.E.2
-
21
-
-
18244366064
-
The genetics of susceptibility to cutaneous melanoma
-
Newton Bishop J A, Bishop D T. The genetics of susceptibility to cutaneous melanoma. Drugs Today (Barc) 2005, 41:193-203.
-
(2005)
Drugs Today (Barc)
, vol.41
, pp. 193-203
-
-
Newton Bishop, J.A.1
Bishop, D.T.2
-
22
-
-
1242307966
-
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
-
Duffy D L, Box N F, Chen W. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet 2004, 13:447-461.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 447-461
-
-
Duffy, D.L.1
Box, N.F.2
Chen, W.3
-
23
-
-
23644448602
-
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma
-
Jannot A S, Meziani R, Bertrand G. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet 2005, 13:913-920.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 913-920
-
-
Jannot, A.S.1
Meziani, R.2
Bertrand, G.3
-
24
-
-
21244446712
-
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population
-
Landi M T, Kanetsky P A, Tsang S. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst 2005, 97:998-1007.
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 998-1007
-
-
Landi, M.T.1
Kanetsky, P.A.2
Tsang, S.3
-
25
-
-
14944367557
-
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
-
Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat 2005, 25:278-284.
-
(2005)
Hum Mutat
, vol.25
, pp. 278-284
-
-
Graf, J.1
Hodgson, R.2
van Daal, A.3
-
26
-
-
40749148586
-
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
-
Kayser M, Liu F, Janssens A C. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 2008, 82:411-423.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 411-423
-
-
Kayser, M.1
Liu, F.2
Janssens, A.C.3
-
27
-
-
40749158014
-
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
-
Sturm R A, Duffy D L, Zhao Z Z. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 2008, 82:424-431.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 424-431
-
-
Sturm, R.A.1
Duffy, D.L.2
Zhao, Z.Z.3
-
28
-
-
33747882661
-
MITF: master regulator of melanocyte development and melanoma oncogene
-
Levy C, Khaled M, Fisher D E. MITF: master regulator of melanocyte development and melanoma oncogene. Trends Mol Med 2006, 12:406-414.
-
(2006)
Trends Mol Med
, vol.12
, pp. 406-414
-
-
Levy, C.1
Khaled, M.2
Fisher, D.E.3
-
29
-
-
32944460267
-
The WNT/Beta-catenin pathway in melanoma
-
Larue L, Delmas V. The WNT/Beta-catenin pathway in melanoma. Front Biosci 2006, 11:733-742.
-
(2006)
Front Biosci
, vol.11
, pp. 733-742
-
-
Larue, L.1
Delmas, V.2
-
30
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium
-
The International HapMap Project. Nature 2003, 426:789-796. International HapMap Consortium
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
31
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998, 8:186-194.
-
(1998)
Genome Res
, vol.8
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
32
-
-
0031955116
-
Consed: a graphical tool for sequence finishing
-
Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998, 8:195-202.
-
(1998)
Genome Res
, vol.8
, pp. 195-202
-
-
Gordon, D.1
Abajian, C.2
Green, P.3
-
33
-
-
0030872838
-
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
-
Nickerson D A, Tobe V O, Taylor S L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997, 25:2745-2751.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 2745-2751
-
-
Nickerson, D.A.1
Tobe, V.O.2
Taylor, S.L.3
-
34
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel S B, Schaffner S F, Nguyen H. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
-
35
-
-
26444449038
-
Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
-
Beaumont K A, Newton R A, Smit D J, Leonard J H, Stow J L, Sturm R A. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet 2005, 14:2145-2154.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2145-2154
-
-
Beaumont, K.A.1
Newton, R.A.2
Smit, D.J.3
Leonard, J.H.4
Stow, J.L.5
Sturm, R.A.6
-
36
-
-
6344275551
-
Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair
-
Ringholm A, Klovins J, Rudzish R, Phillips S, Rees J L, Schioth H B. Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J Invest Dermatol 2004, 123:917-923.
-
(2004)
J Invest Dermatol
, vol.123
, pp. 917-923
-
-
Ringholm, A.1
Klovins, J.2
Rudzish, R.3
Phillips, S.4
Rees, J.L.5
Schioth, H.B.6
-
37
-
-
25144468766
-
Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells
-
Newton R A, Smit S E, Barnes C C, Pedley J, Parsons P G, Sturm R A. Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells. Peptides 2005, 26:1818-1824.
-
(2005)
Peptides
, vol.26
, pp. 1818-1824
-
-
Newton, R.A.1
Smit, S.E.2
Barnes, C.C.3
Pedley, J.4
Parsons, P.G.5
Sturm, R.A.6
-
38
-
-
2942545810
-
Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach
-
Kanetsky P A, Ge F, Najarian D. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach. Cancer Epidemiol Biomarkers Prev 2004, 13:808-819.
-
(2004)
Cancer Epidemiol Biomarkers Prev
, vol.13
, pp. 808-819
-
-
Kanetsky, P.A.1
Ge, F.2
Najarian, D.3
-
39
-
-
33645793799
-
Structure modeling of all identified G protein-coupled receptors in the human genome
-
Zhang Y, Devries M E, Skolnick J. Structure modeling of all identified G protein-coupled receptors in the human genome. PLoS Comput Biol 2006, 2:e13.
-
(2006)
PLoS Comput Biol
, vol.2
-
-
Zhang, Y.1
Devries, M.E.2
Skolnick, J.3
-
41
-
-
42249112127
-
Human 'coat colour' genetics
-
Sturm R A. Human 'coat colour' genetics. Pigment Cell Melanoma Res 2008, 21:115-116.
-
(2008)
Pigment Cell Melanoma Res
, vol.21
, pp. 115-116
-
-
Sturm, R.A.1
-
42
-
-
70349237926
-
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations
-
Scherer D, Nagore E, Bermejo J L. Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations. Int J Cancer 2009, 125:1868-1875.
-
(2009)
Int J Cancer
, vol.125
, pp. 1868-1875
-
-
Scherer, D.1
Nagore, E.2
Bermejo, J.L.3
-
43
-
-
58249125574
-
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population
-
Brudnik U, Branicki W, Wojas-Pelc A, Kanas P. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol 2009, 18:167-174.
-
(2009)
Exp Dermatol
, vol.18
, pp. 167-174
-
-
Brudnik, U.1
Branicki, W.2
Wojas-Pelc, A.3
Kanas, P.4
-
44
-
-
66149100968
-
Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer
-
Bauer J, Weng J, Kebebew E, Soares P, Trovisco V, Bastian B C. Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer. Exp Dermatol 2009, 18:548-552.
-
(2009)
Exp Dermatol
, vol.18
, pp. 548-552
-
-
Bauer, J.1
Weng, J.2
Kebebew, E.3
Soares, P.4
Trovisco, V.5
Bastian, B.C.6
-
45
-
-
0344603629
-
Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair
-
Schioth H B, Phillips S R, Rudzish R, Birch-Machin M A, Wikberg J E, Rees J L. Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun 1999, 260:488-491.
-
(1999)
Biochem Biophys Res Commun
, vol.260
, pp. 488-491
-
-
Schioth, H.B.1
Phillips, S.R.2
Rudzish, R.3
Birch-Machin, M.A.4
Wikberg, J.E.5
Rees, J.L.6
-
47
-
-
66749100686
-
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients
-
Perez Oliva A B, Fernendez L P, Detorre C. Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients. Hum Mutat 2009, 30:811-822.
-
(2009)
Hum Mutat
, vol.30
, pp. 811-822
-
-
Perez Oliva, A.B.1
Fernendez, L.P.2
Detorre, C.3
-
48
-
-
34047270236
-
Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer
-
Sanchez-Laorden B L, Jimenez-Cervantes C, Garcia-Borron J C. Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer. J Biol Chem 2007, 282:3241-3251.
-
(2007)
J Biol Chem
, vol.282
, pp. 3241-3251
-
-
Sanchez-Laorden, B.L.1
Jimenez-Cervantes, C.2
Garcia-Borron, J.C.3
-
49
-
-
32444438910
-
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
-
Ribas G, Gonzalez-Neira A, Salas A. Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet 2006, 118:669-679.
-
(2006)
Hum Genet
, vol.118
, pp. 669-679
-
-
Ribas, G.1
Gonzalez-Neira, A.2
Salas, A.3
-
50
-
-
61349112758
-
Comparison of genetic polymorphisms of CYP2E1, ADH2, and ALDH2 genes involved in alcohol metabolism in Koreans and four other ethnic groups
-
Kang T S, Woo S W, Park H J, Lee Y, Roh J. Comparison of genetic polymorphisms of CYP2E1, ADH2, and ALDH2 genes involved in alcohol metabolism in Koreans and four other ethnic groups. J Clin Pharm Ther 2009, 34:225-230.
-
(2009)
J Clin Pharm Ther
, vol.34
, pp. 225-230
-
-
Kang, T.S.1
Woo, S.W.2
Park, H.J.3
Lee, Y.4
Roh, J.5
-
51
-
-
50149113287
-
Evaluation of HapMap data in six populations of European descent
-
Lundmark P E, Liljedahl U, Boomsma D I. Evaluation of HapMap data in six populations of European descent. Eur J Hum Genet 2008, 16:1142-1150.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1142-1150
-
-
Lundmark, P.E.1
Liljedahl, U.2
Boomsma, D.I.3
-
52
-
-
60549085065
-
Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype
-
Branicki W, Brudnik U, Wojas-Pelc A. Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. Ann Hum Genet 2009, 73(2):160-170.
-
(2009)
Ann Hum Genet
, vol.73
, Issue.2
, pp. 160-170
-
-
Branicki, W.1
Brudnik, U.2
Wojas-Pelc, A.3
|