Joan Anton Puig-Butille

Joan Anton Puig-Butille

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Joan Anton Puig-Butille

Joan Anton Puig-Butille

Publications by authors named "Joan Anton Puig-Butille"

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Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.

Ann Clin Transl Neurol 2019 08 17;6(8):1559-1565. Epub 2019 Jul 17.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/acn3.50844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689677PMC
August 2019

Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations.

J Invest Dermatol 2019 Apr 22;139(4):900-908. Epub 2018 Oct 22.

Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Catalonia, Spain; Department of Biochemical and Molecular Genetics, Hospital Clínic, IDIBAPS, University of Barcelona, Catalonia, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183268
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http://dx.doi.org/10.1016/j.jid.2018.07.045DOI Listing
April 2019

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

J Alzheimers Dis 2017 ;56(3):1065-1074

Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-161113DOI Listing
February 2018

Clinical, Epidemiological, and Molecular Heterogeneity in Acral Melanoma.

J Invest Dermatol 2018 02;138(2):254-255

Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.09.027DOI Listing
February 2018

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

Pigment Cell Melanoma Res 2018 01 17;31(1):39-50. Epub 2017 Oct 17.

Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.

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http://dx.doi.org/10.1111/pcmr.12646DOI Listing
January 2018

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Mol Neurobiol 2017 07 6;54(5):3906-3910. Epub 2016 Dec 6.

Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12035-016-0305-5DOI Listing
July 2017

IRF4 rs12203592 functional variant and melanoma survival.

Int J Cancer 2017 04 6;140(8):1845-1849. Epub 2017 Feb 6.

Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ijc.30605DOI Listing
April 2017

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

JAMA Dermatol 2016 10;152(10):1099-1105

Hospital Clinic I Provincial de Barcelona, Universitat de Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain4Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain.

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http://dx.doi.org/10.1001/jamadermatol.2016.1189DOI Listing
October 2016

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival.

Int J Cancer 2016 09 31;139(6):1297-302. Epub 2016 May 31.

Grup D'Immunoreceptors Del Sistema Innat I Adaptatiu, Institut D'Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1002/ijc.30184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503133PMC
September 2016

Reply.

Ann Neurol 2016 May 22;79(5):868. Epub 2016 Mar 22.

Dermatology Department, Melanoma Unit, Hospital Clínic and August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.

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http://doi.wiley.com/10.1002/ana.24629
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http://dx.doi.org/10.1002/ana.24629DOI Listing
May 2016

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.

JAMA Dermatol 2016 Apr;152(4):405-12

Melanoma Unit, Dermatology Department, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques d'August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain2Centro de Investigación Biomédica en Red en Enfermedades Raras, Valencia, Spain.

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http://dx.doi.org/10.1001/jamadermatol.2015.4356DOI Listing
April 2016

Reply.

Ann Neurol 2016 Jan 12;79(1):161-3. Epub 2015 Dec 12.

Dermatology Department, Melanoma Unit, Hospital Clinic and August Pi i Sunyer Biomedical Research Institute.

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http://dx.doi.org/10.1002/ana.24526DOI Listing
January 2016

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Nat Genet 2015 Sep 3;47(9):987-995. Epub 2015 Aug 3.

Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1038/ng.3373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557485PMC
September 2015

Update in genetic susceptibility in melanoma.

Ann Transl Med 2015 Sep;3(15):210

1 Dermatology Department, Melanoma Unit, Hospital Clínic de Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain ; 2 Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain ; 3 Molecular Biology and Genetics Department, Melanoma Unit, Hospital Clínic de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.08.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583600PMC
September 2015

Reply: To PMID 25631192.

Ann Neurol 2015 Jul 25;78(1):153-4. Epub 2015 May 25.

Dermatology Department, Melanoma Unit, Hospital Clínic and August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.24418DOI Listing
July 2015

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Ann Neurol 2015 May 13;77(5):889-94. Epub 2015 Mar 13.

Dermatology, Department, Melanoma Unit, Hospital Clínic and August Pi i Sunyer Biomedical Research Institute (IDIBAPS); Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute (ISCIII).

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http://dx.doi.org/10.1002/ana.24373DOI Listing
May 2015

Multiple primary acral melanomas in two young caucasian patients.

Dermatology 2014 13;228(4):307-10. Epub 2014 Jun 13.

Melanoma Unit, Dermatology Department, Hospital Clínic of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000362207DOI Listing
April 2015

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Hered Cancer Clin Pract 2014 20;12(1):20. Epub 2014 Nov 20.

Dermatology Department and Biochemistry and Molecular Genetics Department, Melanoma Unit, Hospital Clinic, Instituto de Investigaciones Biomédicas August Pi I Sunyer (IDIBAPS), Barcelona, Spain ; Centro Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.

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http://dx.doi.org/10.1186/1897-4287-12-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361137PMC
March 2015

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

J Am Acad Dermatol 2014 Nov 24;71(5):888-95. Epub 2014 Jul 24.

Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII, Barcelona, Spain; Dermatology Department, Melanoma Unit, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2014.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4250348PMC
November 2014

TERT gene amplification is associated with poor outcome in acral lentiginous melanoma.

J Am Acad Dermatol 2014 Oct;71(4):839-41

Department of Pathology, Hospital Clínic, IDIBAPS, University of Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2014.05.035DOI Listing
October 2014

The effect on melanoma risk of genes previously associated with telomere length.

J Natl Cancer Inst 2014 Oct 17;106(10). Epub 2014 Sep 17.

Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds Cancer Research UK Centre, University of Leeds, Leeds, UK (MMI, DTB, JCT, MHa, JRM, JANB, JHB); Oncogenomics (NKH), Genetic Epidemiology (NGM), Inflammatory Bowel Diseases Laboratory (GLRS), Cancer Control Group (DCW), Statistical Genetics (SM, MHL), and Molecular Epidemiology (GWM), QIMR Berghofer Medical Research Institute, Brisbane, Australia; INSERM, UMR-946, Genetic Variation and Human Diseases Unit, Paris, France (MB, FD); Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France (MB, FD); Cancer Epidemiology and Services Research, Sydney School of Public Health, University of Sydney, Australia (AEC); Department of Oncology, University of Cambridge, Cambridge, UK (AMD, PDPP); Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX (JEL); Centre for Genetic Origins of Health and Disease, Faculty of Medicine, Dentistry and Health Sciences, University of Western Australia, Crawley, Australia (EKM, SVW); Centre for Cancer Biomarkers CCBIO (LAA) and Gade Laboratory for Pathology (AM), Department of Clinical Medicine, University of Bergen, Bergen, Norway; Department of Pathology, Haukeland University Hospital, Bergen, Norway (LAA); Department of Pathology, Molecular Pathology (PAA) and Department of Dermatology (PH), Oslo University Hospital, Rikshospitalet, Oslo, Norway; Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Service de Dermatologie, Université Paris Descartes, Paris, France (MFA); Department of Dermatology (EA) and Oncogenics Unit (EA, EF), Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv, Israel (EA); Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy (GBS, EFPG); Laboratory of Genetics of Rare Hereditary Cancers, San Martino-IST Research Hospital, Genoa, Italy (GBS, EFPG); Division of Cancer Epidemiology and Gene

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https://genepi.qimr.edu.au/contents/p/staff/IlesMM_JNCI_EPUB
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/dju267
Publisher Site
http://dx.doi.org/10.1093/jnci/dju267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196080PMC
October 2014

TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma.

J Natl Cancer Inst 2014 Sep 13;106(9). Epub 2014 Sep 13.

Department of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).

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http://dx.doi.org/10.1093/jnci/dju246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200061PMC
September 2014

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

J Clin Exp Dermatol Res 2014 Sep;5(5):231

Dermatology Department, Melanoma Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain ; CIBER on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.4172/2155-9554.1000231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399806PMC
September 2014

TERT and AURKA gene copy number gains enhance the detection of acral lentiginous melanomas by fluorescence in situ hybridization.

J Mol Diagn 2014 Mar 27;16(2):198-206. Epub 2013 Dec 27.

Department of Pathology, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2013.10.009DOI Listing
March 2014

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.

Exp Dermatol 2013 Jul;22(7):494-6

Melanoma Unit, Biochemistry and Molecular Genetics Service, Hospital Clinic of Barcelona, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1111/exd.12177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748792PMC
July 2013

A variant in FTO shows association with melanoma risk not due to BMI.

Nat Genet 2013 Apr 3;45(4):428-32, 432e1. Epub 2013 Mar 3.

Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St. James's University Hospital, Leeds, UK.

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https://genepi.qimr.edu.au/contents/p/staff/Iles_etal_Nature
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http://www.nature.com/doifinder/10.1038/ng.2571
Publisher Site
http://dx.doi.org/10.1038/ng.2571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640814PMC
April 2013

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.

J Am Acad Dermatol 2012 Jul 16;67(1):e17-27. Epub 2011 Jun 16.

Melanoma Unit, Dermatology Department, Hospital Clinic of Barcelona, Institut d'investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jaad.2011.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215791PMC
July 2012

Molecular characterization of human cutaneous melanoma-derived cell lines.

Anticancer Res 2012 Apr;32(4):1245-51

Melanoma Unit of the Department of Dermatology, Hospital Clínic of Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain.

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April 2012

Genome-wide association study identifies three new melanoma susceptibility loci.

Nat Genet 2011 Oct 9;43(11):1108-13. Epub 2011 Oct 9.

Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK.

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http://dx.doi.org/10.1038/ng.959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256PMC
October 2011

Correlation among dermoscopy, confocal reflectance microscopy, and histologic features of melanoma and basal cell carcinoma collision tumor.

Dermatol Surg 2011 Feb 31;37(2):275-9. Epub 2011 Jan 31.

Melanoma Unit, Department of Dermatology, Hospital Clinic of Barcelona, Institut d'investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.

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http://dx.doi.org/10.1111/j.1524-4725.2010.01871.xDOI Listing
February 2011