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Joan Anton Puig Butille, Phd
Joan Anton Puig Butille, Phd
Head of Molecular Biology CORE laboratory, Hospital Clinic Barcelona
Dirección de correo verificada de clinic.cat
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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents
AM Goldstein, M Chan, M Harland, NK Hayward, F Demenais, DT Bishop, ...
Journal of medical genetics 44 (2), 99-106, 2007
5582007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL
AM Goldstein, M Chan, M Harland, EM Gillanders, NK Hayward, MF Avril, ...
Cancer research 66 (20), 9818-9828, 2006
5302006
Update in genetic susceptibility in melanoma
M Potrony, C Badenas, P Aguilera, JA Puig-Butille, C Carrera, J Malvehy, ...
Annals of translational medicine 3 (15), 210, 2015
3082015
Genome-wide association study identifies three new melanoma susceptibility loci
JH Barrett, MM Iles, M Harland, JC Taylor, JF Aitken, PA Andresen, ...
Nature genetics 43 (11), 1108-1113, 2011
3002011
TERT Promoter Mutation Status as an Independent Prognostic Factor in Cutaneous Melanoma
KG Griewank, R Murali, JA Puig-Butille, B Schilling, E Livingstone, ...
Journal of the National Cancer Institute 106 (9), dju246, 2014
2892014
Benefits of total body photography and digital dermatoscopy (“two-step method of digital follow-up”) in the early diagnosis of melanoma in patients at high risk for melanoma
G Salerni, C Carrera, L Lovatto, JA Puig-Butille, C Badenas, E Plana, ...
Journal of the American Academy of Dermatology 67 (1), e17-e27, 2012
2822012
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
MH Law, DT Bishop, JE Lee, M Brossard, NG Martin, EK Moses, F Song, ...
Nature genetics 47 (9), 987-995, 2015
2642015
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility
MT Landi, DT Bishop, S MacGregor, MJ Machiela, AJ Stratigos, P Ghiorzo, ...
Nature genetics 52 (5), 494-504, 2020
2022020
A variant in FTO shows association with melanoma risk not due to BMI
J Randerson-Moor, C Requena, L Rivoltini, M Rodolfo, M Santinami, ...
Nature genetics 45 (4), 428-432, 2013
1452013
The effect on melanoma risk of genes previously associated with telomere length
MM Iles, DT Bishop, JC Taylor, NK Hayward, M Brossard, AE Cust, ...
Journal of the National Cancer Institute 106 (10), dju267, 2014
1362014
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
DL Duffy, G Zhu, X Li, M Sanna, MM Iles, LC Jacobs, DM Evans, S Yazar, ...
Nature communications 9 (1), 4774, 2018
1182018
Development and validation of the new HER2DX assay for predicting pathological response and survival outcome in early-stage HER2-positive breast cancer
A Prat, V Guarneri, T Pascual, F Braso-Maristany, E Sanfeliu, L Pare, ...
EBioMedicine 75, 2022
972022
Genetic abnormalities in large to giant congenital nevi: beyond NRAS mutations
VM da Silva, E Martinez-Barrios, G Tell-Martí, M Dabad, C Carrera, ...
Journal of Investigative Dermatology 139 (4), 900-908, 2019
892019
Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes
T Zhang, J Choi, MA Kovacs, J Shi, M Xu, AM Goldstein, AJ Trower, ...
Genome research 28 (11), 1621-1635, 2018
872018
Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications …
M Potrony, JA Puig-Butillé, P Aguilera, C Badenas, C Carrera, J Malvehy, ...
Journal of the American Academy of Dermatology 71 (5), 888-895, 2014
832014
Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer
JA Puig-Butille, MJ Escámez, F Garcia-Garcia, G Tell-Marti, À Fabra, ...
Oncotarget 5 (6), 1439, 2013
772013
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer‐prone genodermatoses
E Chacón‐Solano, C León, F Díaz, F García‐García, M García, ...
British journal of dermatology 181 (3), 512-522, 2019
682019
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom
M Harland, AE Cust, C Badenas, YM Chang, EA Holland, P Aguilera, ...
Hereditary cancer in clinical practice 12, 1-10, 2014
682014
Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers
F Cuéllar, S Puig, I Kolm, J Puig‐Butille, P Zaballos, R Martí‐Laborda, ...
British Journal of Dermatology 160 (1), 48-53, 2009
682009
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease
G Tell‐Marti, JA Puig‐Butille, M Potrony, C Badenas, M Mila, J Malvehy, ...
Annals of Neurology 77 (5), 889-894, 2015
652015
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Artículos 1–20