Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
Lapunzina, Pablo
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2005)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2005)
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Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
Court, Franck, Tayama, Chiharu, Romanelli, Valeria, Martin-Trujillo, Alex, Iglesias-Platas, Isabel, Okamura, Kohji, Sugahara, Naoko, Simón, Carlos, Moore, Harry, Harness, Julie V, Keirstead, Hans, Sanchez-Mut, Jose Vicente, Kaneki, Eisuke, Lapunzina, Pablo, Soejima, Hidenobu, Wake, Norio, Esteller, Manel, Ogata, Tsutomu, Hata, Kenichiro, Nakabayashi, Kazuhiko, Monk, David
Published in Genome research (01.04.2014)
Published in Genome research (01.04.2014)
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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M, Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, Del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Dellinger, Michael T, Martinez-Glez, Victor
Published in The Journal of experimental medicine (04.02.2019)
Published in The Journal of experimental medicine (04.02.2019)
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The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
Monteagudo-Sánchez, Ana, Hernandez Mora, Jose Ramon, Simon, Carlos, Burton, Adam, Tenorio, Jair, Lapunzina, Pablo, Clark, Stephen, Esteller, Manel, Kelsey, Gavin, López-Siguero, Juan Pedro, de Nanclares, Guiomar Perez, Torres-Padilla, Maria-Elena, Monk, David
Published in Nucleic acids research (18.11.2020)
Published in Nucleic acids research (18.11.2020)
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CDKN1C mutations: two sides of the same coin
Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias
Published in Trends in molecular medicine (01.11.2014)
Published in Trends in molecular medicine (01.11.2014)
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Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
Berdasco, María, Ropero, Santiago, Setien, Fernando, Fraga, Mario F, Lapunzina, Pablo, Losson, Régine, Alaminos, Miguel, Cheung, Nai-Kong, Rahman, Nazneen, Esteller, Manel
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (22.12.2009)
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Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
Published in Scientific reports (15.09.2020)
Published in Scientific reports (15.09.2020)
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
Martínez-Glez, Víctor, Valencia, Maria, Caparrós-Martín, José A., Aglan, Mona, Temtamy, Samia, Tenorio, Jair, Pulido, Veronica, Lindert, Uschi, Rohrbach, Marianne, Eyre, David, Giunta, Cecilia, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome
Eggermann, Katja, Bliek, Jet, Brioude, Frédéric, Algar, Elizabeth, Buiting, Karin, Russo, Silvia, Tümer, Zeynep, Monk, David, Moore, Gudrun, Antoniadi, Thalia, Macdonald, Fiona, Netchine, Irène, Lombardi, Paolo, Soellner, Lukas, Begemann, Matthias, Prawitt, Dirk, Maher, Eamonn R, Mannens, Marcel, Riccio, Andrea, Weksberg, Rosanna, Lapunzina, Pablo, Grønskov, Karen, Mackay, Deborah Jg, Eggermann, Thomas
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Horn, Denise, Fernández-Núñez, Elisa, Gomez-Carmona, Ricardo, Rivera-Barahona, Ana, Nevado, Julian, Schwartzmann, Sarina, Ehmke, Nadja, Lapunzina, Pablo, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Boschann, Felix, Ruiz-Perez, Victor L.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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A six-attribute classification of geneticmosaicism
Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Ruiz Pérez, Víctor L., Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Worldwide distribution of genetic factors related to severity of COVID-19 infection
Esteban, María Esther, Pino, Débora, Romero-Lorca, Alicia, Novillo, Apolonia, Gaibar, María, Riancho, José A, Rojas-Martínez, Augusto, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Athanasiadis, Georgios, Fernández-Santander, Ana
Published in Annals of human biology (31.12.2024)
Published in Annals of human biology (31.12.2024)
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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
Hernandez-Gonzalez, Ignacio, Tenorio, Jair, Palomino-Doza, Julian, Martinez Meñaca, Amaya, Morales Ruiz, Rafael, Lago-Docampo, Mauro, Valverde Gomez, María, Gomez Roman, Javier, Enguita Valls, Ana Belén, Perez-Olivares, Carmen, Valverde, Diana, Gil Carbonell, Joan, Garrido-Lestache Rodríguez-Monte, Elvira, Del Cerro, Maria Jesus, Lapunzina, Pablo, Escribano-Subias, Pilar
Published in PloS one (29.04.2020)
Published in PloS one (29.04.2020)
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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Published in Nature communications (15.02.2019)
Published in Nature communications (15.02.2019)
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Clinical utility gene card for: Beckwith-Wiedemann Syndrome
Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna
Published in European journal of human genetics : EJHG (01.03.2014)
Published in European journal of human genetics : EJHG (01.03.2014)
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New microdeletion and microduplication syndromes: A comprehensive review
Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Published in Genetics and molecular biology (01.01.2014)
Published in Genetics and molecular biology (01.01.2014)
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M B, Lupski, James R, De Baere, Elfride
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R, Tümer, Zeynep
Published in Clinical epigenetics (16.03.2022)
Published in Clinical epigenetics (16.03.2022)
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