Ngā hua rapu - 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 mā Pessanha, Inês, Triana, Paloma, Martinez-Glez, Victor, Lopez-Gutierrez, Juan Carlos

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

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

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

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

    I whakaputaina 2014
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  5. 5
    Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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.

    I whakaputaina 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 mā 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.

    I whakaputaina 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 mā 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.

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 2011
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  12. 12
    A Six-attribute Classification of Genetic Mosaicism

    A Six-attribute Classification of Genetic Mosaicism mā 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

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

    New microdeletion and microduplication syndromes: A comprehensive review mā 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

    I whakaputaina 2014
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  14. 14
    New microdeletion and microduplication syndromes: a comprehensive review

    New microdeletion and microduplication syndromes: a comprehensive review mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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

    I whakaputaina 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 mā 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.

    I whakaputaina 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 mā 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

    I whakaputaina 2011
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