Simpson-Golabi-Behmel syndrome types I and II

Por Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Publicado no Orphanet J Rare Dis (2014)

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

Por Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez-Laguna, Lara, García-Miguel, Purificación, Martínez, Augusto Rojas, Martínez-Glez, Víctor
Publicado em 2014

Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

Por Lassaletta, Luis, Calvino, Miryam, Morales-Puebla, Jose Manuel, Lapunzina, Pablo, Rodriguez-de la Rosa, Lourdes, Varela-Nieto, Isabel, Martinez-Glez, Victor
Publicado no Front Neurol (2019)

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Por Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia-Benitez, María, Lapunzina, Pablo, Ruiz-Peréz, Víctor
Publicado no Am J Case Rep (2017)

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Por Lapunzina, Pablo, Aglan, Mona, Temtamy, Samia, Caparrós-Martín, José A., Valencia, Maria, Letón, Rocío, Martínez-Glez, Victor, Elhossini, Rasha, Amr, Khalda, Vilaboa, Nuria, Ruiz-Perez, Victor L.
Publicado em 2010

Gene expression analysis of aberrant signaling pathways in meningiomas

Por TORRES-MARTÍN, MIGUEL, MARTINEZ-GLEZ, VICTOR, PEÑA-GRANERO, CAROLINA, ISLA, ALBERTO, LASSALETTA, LUIS, DE CAMPOS, JOSE M., PINTO, GIOVANNY R., BURBANO, ROMMEL R., MELÉNDEZ, BÁRBARA, CASTRESANA, JAVIER S., REY, JUAN A.
Publicado em 2013

Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

Por 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.
Publicado em 2011

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Por Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Publicado em 2009

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Por Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto, Marfil, Victoria Esteban, García-Miñaur, Sixto, Lapunzina, Pablo
Publicado em 2011

New microdeletion and microduplication syndromes: A comprehensive review

Por 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
Publicado em 2014

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Por Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N., Martínez-Glez, Víctor
Publicado no PLoS One (2015)

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Por 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
Publicado no J Exp Med (2019)

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

Por Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert K
Publicado no Eur J Endocrinol (2017)

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado no Mol Genet Genomic Med (2016)

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Por Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Publicado em 2011

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Por 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.
Publicado no Nat Commun (2019)

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Por Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F., Breugem, Corstiaan C., Duran, Karen, Massink, Maarten, Derksen, Patrick W. B., van IJcken, Wilfred F. J., van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L., Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., van Haaften, Gijs
Publicado no Eur J Hum Genet (2018)