A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
Calvete, Oriol, Martinez, Paula, Garcia-Pavia, Pablo, Benitez-Buelga, Carlos, Paumard-Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero-Laorden, Nuria, Garcia-Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso-Pulpon, Luis, Setien, Fernando, Esteller, Manel, Rodriguez-Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A., Benítez, Javier
Published in Nature communications (25.09.2015)
Published in Nature communications (25.09.2015)
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Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer
Paumard‐Hernández, Beatriz, Calvete, Oriol, Inglada Pérez, Lucia, Tejero, Héctor, Al‐Shahrour, Fátima, Pita, Guillermo, Barroso, Alicia, Carlos Triviño, Juan, Urioste, Miguel, Valverde, Claudia, González Billalabeitia, Enrique, Quiroga, Vanesa, Francisco Rodríguez Moreno, Juan, Fernández Aramburo, Antonio, López, Cristina, Maroto, Pablo, Sastre, Javier, José Juan Fita, María, Duran, Ignacio, Lorenzo‐Lorenzo, Isabel, Iranzo, Patricia, García del Muro, Xavier, Ros, Silverio, Zambrana, Francisco, María Autran, Ana, Benítez, Javier
Published in International journal of cancer (15.10.2018)
Published in International journal of cancer (15.10.2018)
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Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour
Calvete, Oriol, Reyes, Jose, Zuñiga, Sheila, Paumard-Hernández, Beatriz, Fernández, Victoria, Bujanda, Luís, Rodriguez-Pinilla, María S, Palacios, Jose, Heine-Suñer, Damian, Banka, Siddharth, Newman, William G, Cañamero, Marta, Pritchard, D Mark, Benítez, Javier
Published in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
Paumard-Hernández, Beatriz, Berges-Soria, Julia, Barroso, Eva, Rivera-Pedroza, Carlos I, Pérez-Carrizosa, Virginia, Benito-Sanz, Sara, López-Messa, Eva, Santos, Fernando, García-Recuero, Ignacio I, Romance, Ana, Ballesta-Martínez, Juliana María, López-González, Vanesa, Campos-Barros, Ángel, Cruz, Jaime, Guillén-Navarro, Encarna, Sánchez Del Pozo, Jaime, Lapunzina, Pablo, García-Miñaur, Sixto, Heath, Karen E
Published in European journal of human genetics : EJHG (01.07.2015)
Published in European journal of human genetics : EJHG (01.07.2015)
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Journal Article
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer
Benito-Sanz, Sara, Royo, Jose Luis, Barroso, Eva, Paumard-Hernández, Beatriz, Barreda-Bonis, Ana C, Liu, Pengfei, Gracía, Ricardo, Lupski, James R, Campos-Barros, Ángel, Gómez-Skarmeta, José Luis, Heath, Karen Elise
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary
Barquín García, Arantzazu, Palacios-Zambrano, Sara, Lozano Alarcón, Felipe, Paumard-Hernández, Beatriz, Quiralte Pulido, Miguel, Navarro, Paloma, Rodríguez, Laura, Salas Villar, Isabel, García-Donas, Jesús
Published in Journal of the National Comprehensive Cancer Network (01.01.2024)
Published in Journal of the National Comprehensive Cancer Network (01.01.2024)
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Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature
Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.
Published in Molecular syndromology (01.01.2017)
Published in Molecular syndromology (01.01.2017)
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Journal Article
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families
Calvete, Oriol, Martinez, Paula, Garcia Pavia, Pablo, Benitez Buelga, Carlos, Paumard Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero Laorden, Nuria, Garcia Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso Pulpon, Luis, Setién, Fernando, Esteller, Manel, Rodriguez Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A, Benitez, Javier
Published in Nature communications (25.09.2015)
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Published in Nature communications (25.09.2015)
Journal Article
Abstract 5446: Genetic bases of testicular seminoma and non-seminoma tumors
Martin-Gimeno, Paloma, Paumard-Hernandez, Beatriz, Calvete, Oriol, Benitez, Javier
Published in Cancer research (Chicago, Ill.) (15.08.2020)
Published in Cancer research (Chicago, Ill.) (15.08.2020)
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