Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
RODRIGUEZ-REVENGA, Laia, MADRIGAL, Irene, PAGONABARRAGA, Javier, XUNCLA, Mar, BADENAS, Celia, KULISEVSKY, Jaime, GOMEZ, Beatriz, MILA, Montserrat
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
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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
Salerni, Gabriel, MD, Carrera, Cristina, MD, Lovatto, Louise, MD, Puig-Butille, Joan Anton, PhD, Badenas, Celia, PhD, Plana, Estel, Puig, Susana, MD, PhD, Malvehy, Josep, MD, PhD
Published in Journal of the American Academy of Dermatology (01.07.2012)
Published in Journal of the American Academy of Dermatology (01.07.2012)
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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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The MC1R r allele does not increase melanoma risk in MITF E318K carriers
Wallingford, Courtney K, Demeshko, Anastassia, Krishnakripa, Asha Krishnankutty, Smit, Darren J, Duffy, David L, Betz-Stablein, Brigid, Pflugfelder, Annette, Jagirdar, Kasturee, Holland, Elizabeth, Mann, Graham J, Primiero, Clare A, Yanes, Tatiane, Malvehy, Josep, Badenas, Cèlia, Carrera, Cristina, Aguilera, Paula, Olsen, Catherine M, Ward, Sarah V, Haass, Nikolas K, Sturm, Richard A, Puig, Susana, Whiteman, David C, Law, Matthew H, Cust, Anne E, Potrony, Miriam, Soyer, H Peter, McInerney-Leo, Aideen M
Published in British journal of dermatology (1951) (24.05.2023)
Published in British journal of dermatology (1951) (24.05.2023)
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A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss
Pauta, Montse, Badenas, Cèlia, Rodriguez-Revenga, Laia, Soler, Anna, Grande, Maribel, Sabrià, Joan, Illanes, Carmen, Borobio, Virginia, Borrell, Antoni
Published in Frontiers in genetics (14.01.2021)
Published in Frontiers in genetics (14.01.2021)
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Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review
Serra‐García, Laura, Morgado‐Carrasco, Daniel, Pérez‐Valencia, Amanda Isabel, Castaño‐Díez, Sandra, Alamon‐Reig, Francesc, Badenas, Cèlia, To‐Figueras, Jordi, Aguilera, Paula
Published in Photodermatology, photoimmunology & photomedicine (01.01.2022)
Published in Photodermatology, photoimmunology & photomedicine (01.01.2022)
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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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TERT gene amplification is associated with poor outcome in acral lentiginous melanoma
Diaz, Alba, MD, Puig-Butillé, Joan Anton, PhD, Muñoz, Concha, Costa, Dolors, PhD, Díez, Anna, MSc, Garcia-Herrera, Adriana, MD, PhD, Carrera, Cristina, MD, PhD, Badenas, Celia, PhD, Solé, Francesc, PhD, Malvehy, Josep, MD, PhD, Puig, Susana, MD, PhD, Alos, Llucia, MD, PhD
Published in Journal of the American Academy of Dermatology (01.10.2014)
Published in Journal of the American Academy of Dermatology (01.10.2014)
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Journal Article
Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma
Puig-Butillé, Joan A., Badenas, Celia, Ogbah, Zighereda, Carrera, Cristina, Aguilera, Paula, Malvehy, Josep, Puig, Susana
Published in Experimental dermatology (01.02.2013)
Published in Experimental dermatology (01.02.2013)
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Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
To‐Figueras, Jordi, Titos, Esther, Aguilera, Paula, Díaz, Alba, Muñoz‐Luque, Javier, Madrigal, Irene, Badenas, Celia, Torra, Mercè, Fondevila, Constantino, Colmenero, Jordi
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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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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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
Familial 4.8MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
Margarit, Ester, Morales, Carme, Rodriguez-Revenga, Laia, Monne, Raquel, Badenas, Cèlia, Soler, Anna, Clusellas, Núria, Mademont, Irene, Sanchez, Aurora
Published in American journal of medical genetics. Part A (01.03.2012)
Published in American journal of medical genetics. Part A (01.03.2012)
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Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas
Grazziotin, Thaís Corsetti, Alarcon, Ivette, Bonamigo, Renan Rangel, Carrera, Cristina, Potrony, Miriam, Aguilera, Paula, Puig-Butillé, Joan-Anton, Brito, Johanna, Badenas, Celia, Alós, Llúcia, Malvehy, Josep, Puig, Susana
Published in JAMA dermatology (Chicago, Ill.) (01.10.2016)
Published in JAMA dermatology (Chicago, Ill.) (01.10.2016)
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Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
Margarit, Ester, Morales, Carme, Rodríguez‐Revenga, Laia, Monné, Raquel, Badenas, Cèlia, Soler, Anna, Clusellas, Núria, Mademont, Irene, Sánchez, Aurora
Published in American journal of medical genetics. Part A (01.03.2012)
Published in American journal of medical genetics. Part A (01.03.2012)
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Structure and Regulation of the Versican Promoter
Domenzain-Reyna, Clelia, Hernández, Daniel, Miquel-Serra, Laia, Docampo, María José, Badenas, Celia, Fabra, Angels, Bassols, Anna
Published in The Journal of biological chemistry (01.05.2009)
Published in The Journal of biological chemistry (01.05.2009)
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Journal Article
Genetic counseling in melanoma
Badenas, Celia, Aguilera, Paula, Puig-Butillé, Joan A., Carrera, Cristina, Malvehy, Josep, Puig, Susana
Published in Dermatologic therapy (01.09.2012)
Published in Dermatologic therapy (01.09.2012)
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Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study
Borrell, Antoni, Grande, Maribel, Meler, Eva, Sabrià, Joan, Mazarico, Edurne, Muñoz, Anna, Rodriguez-Revenga, Laia, Badenas, Cèlia, Figueras, Francesc
Published in Fetal diagnosis and therapy (01.10.2017)
Published in Fetal diagnosis and therapy (01.10.2017)
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Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies
Grande, Maribel, Stergiotou, Iosifina, Pauta, Montse, Marquès, Borja, Badenas, Cèlia, Soler, Anna, Yaron, Yuval, Borrell, Antoni
Published in Fetal diagnosis and therapy (2019)
Published in Fetal diagnosis and therapy (2019)
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