Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Por Badenas, C, To-Figueras, J, Phillips, JD, Warby, CA, Muñoz, C, Herrero, C
Publicado em 2009

Maternal transmission in sporadic Huntington's disease.

Por Sánchez, A, Milà, M, Castellví-Bel, S, Rosich, M, Jiménez, D, Badenas, C, Estivill, X
Publicado em 1997

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

Por Torra, R, Badenas, C, San Millán, J L, Pérez-Oller, L, Estivill, X, Darnell, A
Publicado em 1999

AMELANOTIC MELANOMA IN OCULOCUTANEOUS ALBINISM: A GENETIC, DERMOSCOPIC AND REFLECTANCE CONFOCAL MICROSCOPY STUDY

Por Ribero, S., Carrera, C., Tell-Marti, G., Pastorino, C., Badenas, C., Garcia, A., Malvehy, J., Puig, S.
Publicado no Br J Dermatol (2017)

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with Lentigo Maligna Melanoma in a Mediterranean population

Por Puig-Butillé, J.A., Carrera, C., Kumar, R., Garcia-Casado, Z., Badenas, C., Aguilera, P., Malvehy, J., Nagore, E., Puig, S.
Publicado em 2013

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

Por Estivill, X, Govea, N, Barceló, E, Badenas, C, Romero, E, Moral, L, Scozzri, R, D'Urbano, L, Zeviani, M, Torroni, A
Publicado em 1998

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene

Por To-Figueras, J., Phillips, J., Gonzalez-López, J.M., Badenas, C., Madrigal, I., González-Romarís, E.M., Ramos, C., Aguirre, J.M., Herrero, C.
Publicado em 2011

Mutational status of nevus associated-melanomas

Por Shitara, D., Tell-Martí, G., Badenas, C., Enokihara, M.M.S.S., Alós, L., Larque, A.B., Michalany, Nilceo, Puig-Butille, J., Carrera, C., Malvehy, J., Puig, S., Bagatin, E.
Publicado no Br J Dermatol (2015)

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Por Potrony, Miriam, Puig-Butille, J.A., Ribera-Sola, M., Iyer, V., Robles-Espinoza, C.D., Aguilera, P., Carrera, Cristina, Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, Susana
Publicado no Br J Dermatol (2019)

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Por Madrigal, I, Rodríguez-Revenga, L, Armengol, L, González, E, Rodriguez, B, Badenas, C, Sánchez, A, Martínez, F, Guitart, M, Fernández, I, Arranz, JA, Tejada, MI, Pérez-Jurado, LA, Estivill, X, Milà, M
Publicado em 2007