Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
Caparrós-Martin, José A., Valencia, María, Pulido, Veronica, Martínez-Glez, Victor, Rueda-Arenas, Inmaculada, Amr, Khalda, Farra, Chantal, Lapunzina, Pablo, Ruiz-Perez, Victor L., Temtamy, Samia, Aglan, Mona
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Journal Article
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
ROMANELLI, Valeria, MENESES, Heloisa Nm, ESTEBAN MARFIL, Victoria, GARCIA-MINAUR, Sixto, LAPUNZINA, Pablo, FERNANDEZ, Luis, MARTINEZ-GLEZ, Victor, GRACIA-BOUTHELIER, Ricardo, FRAGA, Mario F, GUILLEN, Encarna, NEVADO, Julian, GEAN, Esther, MARTORELL, Loreto
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Journal Article
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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Journal Article
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
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 in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Journal Article
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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Journal Article
PIK3CA‐related congenital haemangioma
Luque‐Luna, Mar, Ivars, Marta, Lavarino, Cinzia Emilia, Olaciregui, Nagore Gené, Zurriaga, Carlota Rovira, Martínez‐Glez, Víctor, Baselga, Eulalia
Published in Journal of the European Academy of Dermatology and Venereology (01.07.2024)
Published in Journal of the European Academy of Dermatology and Venereology (01.07.2024)
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Journal Article
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
Puig-Hervás, Maria Trinidad, Temtamy, Samia, Aglan, Mona, Valencia, Maria, Martínez-Glez, Víctor, Ballesta-Martínez, María Juliana, López-González, Vanesa, Ashour, Adel M., Amr, Khalda, Pulido, Veronica, Guillén-Navarro, Encarna, Lapunzina, Pablo, Caparrós-Martín, José A., Ruiz-Perez, Victor L.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Journal Article
Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center
Moreno Alfonso, Julio César, Méndez-Maestro, Irune, Coll I Prat, Aniol, Rodríguez-Laguna, Lara, Martínez-Glez, Victor, Triana, Paloma, López-Gutiérrez, Juan Carlos
Published in European journal of pediatric surgery (01.02.2024)
Published in European journal of pediatric surgery (01.02.2024)
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Journal Article
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study
Martinez‐Glez, Victor, Rodriguez‐Laguna, Lara, Viana‐Huete, Vanesa, García Torrijos, Carolina, Hurtado, Begoña, Lapunzina, Pablo, Triana, Paloma, López‐Gutiérrez, Juan Carlos
Published in Clinical genetics (01.03.2022)
Published in Clinical genetics (01.03.2022)
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Journal Article
A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies
Álvarez, Luis Francisco González, Tenorio‐Castaño, Jair, Poletta, Fernando A., Santos‐Simarro, Fernando, Arias, Pedro, Gallego, Natalia, Orioli, Iêda Maria, Mundlos, Stefan, Castilla, Eduardo E., Martínez‐Glez, Víctor, Martínez‐Frías, María Luisa, Ruiz‐Pérez, Víctor L., Nevado, Julián, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Journal Article
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement
Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler‐Noreuil, Kim M., Kuentz, Paul, Mancini, Grazia M. S., 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 in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Journal Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)
Gökpınar İli, Ezgi, Taşdelen, Elifcan, Durmaz, Ceren Damla, Altıner, Şule, Tuncalı, Timur, Martinez‐Glez, Victor, Karabulut, Halil Gürhan, Vural, Seçil, Ceylaner, Serdar, Acar, Mustafa Oğuz, Ilgın Ruhi, Hatice
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib
Lacasta‐Plasin, Clara, Martinez‐Glez, Victor, Rodriguez‐Laguna, Lara, Cervantes‐Pardo, Antonio, Martinez‐Menchon, Teresa, Sanchez‐Jimenez, Regina, Campos‐Dominguez, Minia
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
An asymptomatic stain on the forehead
Ivars, Marta, López‐Gutiérrez, Juan Carlos, Martinez‐Glez, Victor, Redondo, Pedro
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.12.2020)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.12.2020)
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Journal Article
Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation
Gordo, Gema, Rodriguez‐Laguna, Lara, Agra, Noelia, Mendez, Pilar, Feito, Marta, Lapunzina, Pablo, Lopez‐Gutierrez, Juan C., Martinez‐Glez, Victor
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
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Journal Article
A New Overgrowth Syndrome is due to Mutations in RNF125
Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez-Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando, Guillén-Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García-Santiago, Fé, González-Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos-Simarro, Fernando, García-Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito-Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López-Granados, Eduardo, Martín-Trujillo, Alex, Montaner, David, Heath, Karen E., Campos-Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz-Pérez, Víctor L., Lapunzina, Pablo
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Journal Article
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization
García-Santiago, Fe Amalia, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Meneses, Antonio González, Rosell, Jordi, Granero, Ángeles Pérez, Vallespín, Elena, Fernández, Luis, Sierra, Blanca, Oliver-Bonet, María, Palomares, María, de Torres, María Luisa, Mori, María Ángeles, Nevado, Julián, Heath, Karen E., Delicado, Alicia, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.05.2015)
Published in American journal of medical genetics. Part A (01.05.2015)
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Journal Article
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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Journal Article
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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Journal Article
Clinical overlap between CLAPO syndrome and macrocephaly‐capillary malformation syndrome
Ivars, Marta, Boixeda, Pablo, Triana, Paloma, Martinez‐Glez, Victor, Rodríguez‐Laguna, Lara, Agra, Noelia, López‐Gutiérrez, Juan Carlos
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2020)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.05.2020)
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Journal Article