Search Results - Martinez-Glez, Victor

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  1. 1
    Thoracic venous malformation: a particular form of a visceral variant

    Thoracic venous malformation: a particular form of a visceral variant by Pessanha, Inês, Triana, Paloma, Martinez-Glez, Victor, Lopez-Gutierrez, Juan Carlos

    Published 2022
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  2. 2
    Simpson-Golabi-Behmel syndrome types I and II

    Simpson-Golabi-Behmel syndrome types I and II by Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo

    Published 2014
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  3. 3
    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

    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 by Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez-Laguna, Lara, García-Miguel, Purificación, Martínez, Augusto Rojas, Martínez-Glez, Víctor

    Published 2014
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  4. 4
    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

    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 by Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez-Laguna, Lara, García-Miguel, Purificación, Martínez, Augusto Rojas, Martínez-Glez, Víctor

    Published 2014
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  5. 5
    Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

    Biomarkers in Vestibular Schwannoma–Associated Hearing Loss by Lassaletta, Luis, Calvino, Miryam, Morales-Puebla, Jose Manuel, Lapunzina, Pablo, Rodriguez-de la Rosa, Lourdes, Varela-Nieto, Isabel, Martinez-Glez, Victor

    Published 2019
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  6. 6
    Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

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

    Published 2017
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  7. 7
    Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

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

    Published 2010
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  8. 8
    Gene expression analysis of aberrant signaling pathways in meningiomas

    Gene expression analysis of aberrant signaling pathways in meningiomas by 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.

    Published 2013
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  9. 9
    Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta

    Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta by 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 2011
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  10. 10
    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

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

    Published 2009
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  11. 11
    Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

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

    Published 2011
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  12. 12
    A Six-attribute Classification of Genetic Mosaicism

    A Six-attribute Classification of Genetic Mosaicism by Martínez-Glez, Víctor, Tenorio, Jair, Nevado, Julián, Gordo, Gema, Rodríguez-Laguna, Lara, Feito, Marta, de Lucas, Raúl, Pérez-Jurado, Luis A., Pérez, Víctor L. Ruiz, Torrelo, Antonio, Spinner, Nancy B., Happle, Rudolf, Biesecker, Leslie G., Lapunzina, Pablo

    Published 2020
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  13. 13
    New microdeletion and microduplication syndromes: A comprehensive review

    New microdeletion and microduplication syndromes: A comprehensive review by 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 2014
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  14. 14
    New microdeletion and microduplication syndromes: a comprehensive review

    New microdeletion and microduplication syndromes: a comprehensive review by 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, Torres, María Luisa de, Riegel, Mariluce, Lapunzina, Pablo

    Published 2014
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  15. 15
    Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

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

    Published 2015
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  16. 16
    Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly by 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 2019
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  17. 17
    A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement

    A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement by Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler-Noreuil, Kim M, Kuentz, Paul, Mancini, Grazia MS, Maniere, Marie-Cecile, Martinez-Glez, Victor, Parker, Victoria E, Semple, Robert K, Srivastava, Siddharth, Vabres, Pierre, de Wit, Marie-Claire Y, Graham, John M, Clayton-Smith, Jill, Mirzaa, Ghayda M, Biesecker, Leslie G

    Published 2021
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  18. 18
    Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

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

    Published 2017
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  19. 19
    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

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

    Published 2016
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  20. 20
    Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

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

    Published 2011
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