Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain
Sargen, Michael R., Calista, Donato, Elder, David E., Massi, Daniela, Chu, Emily Y., Potrony, Míriam, Pfeiffer, Ruth M., Carrera, Cristina, Aguilera, Paula, Alos, Llucia, Puig, Susana, Elenitsas, Rosalie, Yang, Xiaohong R., Tucker, Margaret A., Landi, Maria Teresa, Goldstein, Alisa M.
Published in Journal of the American Academy of Dermatology (01.09.2020)
Published in Journal of the American Academy of Dermatology (01.09.2020)
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Journal Article
Influence of germline genetic variants on dermoscopic features of melanoma
Pozzobon, Flavia Carolina, Tell‐Marti, Gemma, Calbet‐Llopart, Neus, Barreiro, Alicia, Espinosa, Natalia, Potrony, Míriam, Alejo, Beatriz, Podlipnik, Sebastian, Combalia, Marc, Puig‐Butillé, Joan Anton, Carrera, Cristina, Malvehy, Josep, Puig, Susana
Published in Pigment cell and melanoma research (01.05.2021)
Published in Pigment cell and melanoma research (01.05.2021)
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Journal Article
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants
Spagnolo, Francesco, Dalmasso, Bruna, Tanda, Enrica, Potrony, Miriam, Puig, Susana, van Doorn, Remco, Kapiteijn, Ellen, Queirolo, Paola, Helgadottir, Hildur, Ghiorzo, Paola
Published in Cancers (18.05.2021)
Published in Cancers (18.05.2021)
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Journal Article
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome
Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J, Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G, Rodriguez-Revenga, Laia
Published in Frontiers in aging neuroscience (06.01.2023)
Published in Frontiers in aging neuroscience (06.01.2023)
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Journal Article
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders
Alvarez-Mora, María Isabel, Rodríguez-Revenga, Laia, Jodar, Meritxell, Potrony, Miriam, Sanchez, Aurora, Badenas, Celia, Oriola, Josep, Villanueva-Cañas, José Luis, Muñoz, Esteban, Valldeoriola, Francesc, Cámara, Ana, Compta, Yaroslau, Carreño, Mar, Martí, María Jose, Sánchez-Valle, Raquel, Madrigal, Irene
Published in Genes (28.03.2023)
Published in Genes (28.03.2023)
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Journal Article
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
Published in Journal of clinical medicine (01.07.2022)
Published in Journal of clinical medicine (01.07.2022)
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Journal Article
DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients
Potrony, Miriam, Haddad, Tariq Sami, Tell-Martí, Gemma, Gimenez-Xavier, Pol, Leon, Carlos, Pevida, Marta, Mateu, Judit, Badenas, Celia, Carrera, Cristina, Malvehy, Josep, Aguilera, Paula, Llames, Sara, Escámez, Maria José, Puig-Butillé, Joan A., del Río, Marcela, Puig, Susana
Published in Frontiers in medicine (01.10.2021)
Published in Frontiers in medicine (01.10.2021)
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Journal Article
Cross-cohort gut microbiome associations with immune checkpoint inhibitor response in advanced melanoma
Lee, Karla A, Thomas, Andrew Maltez, Bolte, Laura A, Björk, Johannes R, de Ruijter, Laura Kist, Armanini, Federica, Asnicar, Francesco, Blanco-Miguez, Aitor, Board, Ruth, Calbet-Llopart, Neus, Derosa, Lisa, Dhomen, Nathalie, Brooks, Kelly, Harland, Mark, Harries, Mark, Leeming, Emily R, Lorigan, Paul, Manghi, Paolo, Marais, Richard, Newton-Bishop, Julia, Nezi, Luigi, Pinto, Federica, Potrony, Miriam, Puig, Susana, Serra-Bellver, Patricio, Shaw, Heather M, Tamburini, Sabrina, Valpione, Sara, Vijay, Amrita, Waldron, Levi, Zitvogel, Laurence, Zolfo, Moreno, de Vries, Elisabeth G E, Nathan, Paul, Fehrmann, Rudolf S N, Bataille, Véronique, Hospers, Geke A P, Spector, Tim D, Weersma, Rinse K, Segata, Nicola
Published in Nature medicine (01.03.2022)
Published in Nature medicine (01.03.2022)
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Journal Article
TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma
Griewank, Klaus G, Murali, Rajmohan, Puig-Butille, Joan Anton, Schilling, Bastian, Livingstone, Elisabeth, Potrony, Miriam, Carrera, Cristina, Schimming, Tobias, Möller, Inga, Schwamborn, Marion, Sucker, Antje, Hillen, Uwe, Badenas, Celia, Malvehy, Josep, Zimmer, Lisa, Scherag, André, Puig, Susana, Schadendorf, Dirk
Published in JNCI : Journal of the National Cancer Institute (01.09.2014)
Published in JNCI : Journal of the National Cancer Institute (01.09.2014)
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Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications
Laguna, Juan Carlos, Pastor, Belén, Nalda, Irene, Hijazo-Pechero, Sara, Teixido, Cristina, Potrony, Miriam, Puig-Butillé, Joan Antón, Mezquita, Laura
Published in British journal of cancer (18.05.2024)
Published in British journal of cancer (18.05.2024)
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Journal Article
Update in genetic susceptibility in melanoma
Potrony, Miriam, Badenas, Celia, Aguilera, Paula, Puig-Butille, Joan Anton, Carrera, Cristina, Malvehy, Josep, Puig, Susana
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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Journal Article
Common genetic variants associated with melanoma risk or naevus count in patients with wildtype MC1R melanoma
Calbet‐Llopart, Neus, Combalia, Marc, Kiroglu, Anil, Potrony, Miriam, Tell‐Martí, Gemma, Combalia, Andrea, Brugues, Albert, Podlipnik, Sebastian, Carrera, Cristina, Puig, Susana, Malvehy, Josep, Puig‐Butillé, Joan Anton
Published in British journal of dermatology (1951) (01.11.2022)
Published in British journal of dermatology (1951) (01.11.2022)
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Journal Article
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
Potrony, Miriam, Puig-Butillé, Joan Anton, PhD, Aguilera, Paula, MD, Badenas, Celia, PhD, Carrera, Cristina, MD, PhD, Malvehy, Josep, MD, PhD, Puig, Susana, MD, PhD
Published in Journal of the American Academy of Dermatology (01.11.2014)
Published in Journal of the American Academy of Dermatology (01.11.2014)
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Journal Article
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations
Helgadottir, Hildur, Ghiorzo, Paola, van Doorn, Remco, Puig, Susana, Levin, Max, Kefford, Richard, Lauss, Martin, Queirolo, Paola, Pastorino, Lorenza, Kapiteijn, Ellen, Potrony, Miriam, Carrera, Cristina, Olsson, Håkan, Höiom, Veronica, Jönsson, Göran
Published in Journal of medical genetics (01.05.2020)
Published in Journal of medical genetics (01.05.2020)
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Journal Article
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations
Potrony, Miriam, Puig-Butille, Joan Anton, Aguilera, Paula, Badenas, Celia, Tell-Marti, Gemma, Carrera, Cristina, Javier Del Pozo, Luis, Conejo-Mir, Julian, Malvehy, Josep, Puig, Susana
Published in JAMA dermatology (Chicago, Ill.) (01.04.2016)
Published in JAMA dermatology (Chicago, Ill.) (01.04.2016)
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Journal Article
POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families
Potrony, M., Puig‐Butille, J.A., Ribera‐Sola, M., Iyer, V., Robles‐Espinoza, C.D., Aguilera, P., Carrera, C., Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, S.
Published in British journal of dermatology (1951) (01.07.2019)
Published in British journal of dermatology (1951) (01.07.2019)
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Journal Article
Longitudinal gut microbiome changes in immune checkpoint blockade-treated advanced melanoma
Björk, Johannes R, Bolte, Laura A, Maltez Thomas, Andrew, Lee, Karla A, Rossi, Niccolo, Wind, Thijs T, Smit, Lotte M, Armanini, Federica, Asnicar, Francesco, Blanco-Miguez, Aitor, Board, Ruth, Calbet-Llopart, Neus, Derosa, Lisa, Dhomen, Nathalie, Brooks, Kelly, Harland, Mark, Harries, Mark, Lorigan, Paul, Manghi, Paolo, Marais, Richard, Newton-Bishop, Julia, Nezi, Luigi, Pinto, Federica, Potrony, Miriam, Puig, Susana, Serra-Bellver, Patricio, Shaw, Heather M, Tamburini, Sabrina, Valpione, Sara, Waldron, Levi, Zitvogel, Laurence, Zolfo, Moreno, de Vries, Elisabeth G E, Nathan, Paul, Fehrmann, Rudolf S N, Spector, Tim D, Bataille, Véronique, Segata, Nicola, Hospers, Geke A P, Weersma, Rinse K
Published in Nature medicine (01.03.2024)
Published in Nature medicine (01.03.2024)
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Journal Article
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease
Tell-Marti, Gemma, Puig-Butille, Joan Anton, Potrony, Miriam, Badenas, Celia, Milà, Montserrat, Malvehy, Josep, Martí, María José, Ezquerra, Mario, Fernández-Santiago, Rubén, Puig, Susana
Published in Annals of neurology (01.05.2015)
Published in Annals of neurology (01.05.2015)
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