檢索結果 - Martinez-Glez, Victor

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

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

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

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

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

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

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

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Gene expression analysis of aberrant signaling pathways in meningiomas 由 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.

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

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

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

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A Six-attribute Classification of Genetic Mosaicism 由 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

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New microdeletion and microduplication syndromes: A comprehensive review 由 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

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New microdeletion and microduplication syndromes: a comprehensive review 由 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

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

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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly 由 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

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A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement 由 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

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

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

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

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