Search Results - "Bádenas, C"

Assessment of CFTR, SPINK1 and PRSS1 mutations, smoking and alcohol abuse in adult chronic pancreatitis patients from Barcelona by de León Suero, H., Vaquero Raya, E., Velasquez Rodríguez, J., Bádenas, C., Varela Castro, E., Molero Richard, X.

“…Non cystic fibrosis (CF)-causing CFTR mutations have population, age and toxic dependent pathogenicity. Mortality was higher (33.3% vs 11.2%) and occurred…”
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VP16.17: First trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound by Soro, G., Monclús, M., Gras, C., Álvarez‐Mora, M., Rodriguez‐Revenga, L., Badenas, C.

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VP13.12: Recurrent non‐immune hydrops fetalis by Soro, G., Muñoz, B., Sanchez‐Duran, M., Arevalo, S., Laura, G., Badenas, C.

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Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency? by Miranda, J., Paz y Miño, F., Borobio, V., Badenas, C., Rodriguez‐Revenga, L., Pauta, M., Borrell, A.

“…ABSTRACT Objective To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on…”
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POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families by 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.

“…Summary Background Germline mutations in telomere‐related genes such as POT1 and TERT predispose individuals to familial melanoma. Objectives To evaluate the…”
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Synchronous primary cutaneous melanomas: a descriptive study of their clinical features, histology, genetic background of the patients and clinical outcomes by Antúnez‐Lay, A., Podlipnik, S., Carrera, C., Potrony, M., Tell‐Martí, G., Badenas, C., Puig‐Butille, J.A., Espinosa, N., Puig, S., Malvehy, J.

“…Background Around 0.5% of cutaneous melanoma (CM) patients will present with synchronous melanomas when first seen. Moreover, 26–40% of patients with multiple…”
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EP04.13: Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF‐PCR by Benitez Quintanilla, L., Badenas, C., Lopez, V., Borobio, V., Pauta, M., Borrell, A.

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Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study by Ribero, S., Carrera, C., Tell‐Marti, G., Pastorino, C., Badenas, C., Garcia, A., Malvehy, J., Puig, S.

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High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium by Pellegrini, C., Cardelli, L., Ghiorzo, P., Pastorino, L., Potrony, M., García‐Casado, Z., Elefanti, L., Stefanaki, I., Mastrangelo, M., Necozione, S., Aguilera, P., Rodríguez‐Hernández, A., Di Nardo, L., Rocco, T., Del Regno, L., Badenas, C., Carrera, C., Malvehy, J., Requena, C., Bañuls, J., Stratigos, A. J., Peris, K., Menin, C., Calista, D., Nagore, E., Puig, S., Landi, M. T., Fargnoli, MC

“…Background Most of large epidemiological studies on melanoma susceptibility have been conducted on fair skinned individuals (US, Australia and Northern…”
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Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype by Longo, C., Barquet, V., Hernandez, E., Marghoob, A.A., Potrony, M., Carrera, C., Aguilera, P., Badenas, C., Malvehy, J., Puig, S.

“…Background MC1R polymorphisms interact with CDKN2A mutations modulating melanoma risk and contribute to a less suspicious clinical and dermoscopic appearance…”
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OC06.07: Maternal plasma genome‐wide cell‐free DNA testing can detect fetal aneuploidy in pregnancy loss and can be used to guide further work‐up in recurrent losses by Borrell, A., Pauta, M., Badenas, C., Soler, A., Borobio, V., Illanes, C., Paz, F., Miño, Y., Yaron, Y.

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Late‐onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation by Aguilera, P., Badenas, C., Whatley, S.D., To‐Figueras, J.

“…Summary Deficiency of uroporphyrinogen III synthase (UROS) causes congenital erythropoietic porphyria (CEP). The disease, originating from the inheritance of…”
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Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report by Podlipnik, S., Guijarro, F., Combalia, A., To‐Figueras, J., Badenas, C., Costa, D., Rozman, M., Jorge, S., Aguilera, P., Gaya, A.

“…Summary Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations…”
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Mutational status of naevus-associated melanomas by Shitara, D., Tell-Martí, G., Badenas, C., Enokihara, M.M.S.S., Alós, L., Larque, A.B., Michalany, N., Puig-Butille, J.A., Carrera, C., Malvehy, J., Puig, S., Bagatin, E.

“…Summary Background The origin of melanoma has always been a debated subject, as well as the role of adjacent melanocytic naevi. Epidemiological and…”
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Benefits of oral Polypodium Leucotomos extract in MM high-risk patients by Aguilera, P., Carrera, C., Puig-Butille, J.A., Badenas, C., Lecha, M., González, S., Malvehy, J., Puig, S.

“…Background  UV radiation and the presence of melanocytic nevi are the main risk factors of sporadic melanoma (MM). Protection of skin by an oral…”
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POT1 and TERT promoter molecular screening in Spanish melanoma families by 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.

“…Summary Melanoma is an aggressive type of skin cancer. Each year more than 250,000 new cases are diagnosed worldwide. If diagnosed at early stages, melanoma…”
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OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis by Borrell, A., Pauta, M., Nadal, A., Arca, G., Paz, F., Miño, Y., Segura, M., Marimón, E., Pina, S., Tubau, A., Badenas, C.

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OC06.02: A new molecular work‐up for early pregnancy losses based on QF‐PCR and SNP‐array in chorionic villi is more accurate than karyotyping by Benitez Quintanilla, L., Pauta, M., Soler, A., Rodriguez‐Revenga, L., Grande, M., Illanes, C., Borobio, V., Badenas, C., Sabrià, J., Borrell, A.

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Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status by Bombonato, C., Ribero, S., Pozzobon, F.C., Puig‐Butille, J.A., Badenas, C., Carrera, C., Malvehy, J., Moscarella, E., Lallas, A., Piana, S., Puig, S., Argenziano, G., Longo, C.

“…Background Melanomas harbouring common genetic mutations might share certain morphological features detectable with dermoscopy and reflectance confocal…”
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Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF by Mangas, C., Potrony, M., Mainetti, C., Bianchi, E., Carrozza Merlani, P., Mancarella Eberhardt, A., Maspoli-Postizzi, E., Marazza, G., Marcollo-Pini, A., Pelloni, F., Sessa, C., Simona, B., Puig-Butillé, J.A., Badenas, C., Puig, S.

“…Summary Background Nearly 10% of all cases of cutaneous melanoma (CM) occur in patients with a personal or family history of the disease. Objectives To obtain…”
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