Search Results - "Campos, Berta" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

by van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter
Published in International journal of molecular sciences (18.09.2023)

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Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

by Biagetti, Betina, Valenzuela, Irene, Campos-Martorell, Ariadna, Campos, Berta, Hernandez, Sara, Giralt, Marina, Díaz-Troyano, Noelia, Iniesta-Serrano, Emilio, Yeste, Diego, Simó, Rafael
Published in Diagnostics (Basel) (01.07.2023)

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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

by Genis, David, Ortega-Cubero, Sara, San Nicolás, Hector, Corral, Jordi, Gardenyes, Josep, de Jorge, Laura, López, Eva, Campos, Berta, Lorenzo, Elena, Tonda, Raúl, Beltran, Sergi, Negre, Montserrat, Obón, María, Beltran, Brigitte, Fàbregas, Laura, Alemany, Berta, Márquez, Fabián, Ramió-Torrentà, Lluís, Gich, Jordi, Volpini, Víctor, Pastor, Pau
Published in Neurology (20.11.2018)

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Functional Insight into and Refinement of the Genomic Boundaries of the IJARID2/I-Neurodevelopmental Disorder Episignature

Functional Insight into and Refinement of the Genomic Boundaries of the IJARID2/I-Neurodevelopmental Disorder Episignature

by van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A, Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A, Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M, van Haelst, Mieke M, Sadikovic, Bekim, Henneman, Peter
Published in International journal of molecular sciences (01.09.2023)

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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history

by Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel
Published in European journal of human genetics : EJHG (01.02.2023)

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Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene

by Frigola, Gerard, del Rincón, Olga Gómez, Florián, Virginia Borobio, Fita, Anna Vallmajó, Campos, Berta, Pauta, Montse, Puimedon, Maria Segura, Oliva, Rafael, Borrell, Antoni, Nadal, Alfons
Published in Virchows Archiv : an international journal of pathology (01.08.2021)

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Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses

Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses

by Pauta, Montse, Campos, Berta, Segura-Puimedon, Maria, Arca, Gemma, Nadal, Alfons, Tubau, Albert, Perez, Silvia Pina, Marimon, Edda, Martín, Lourdes, López-Quesada, Eva, Sabrià, Joan, Muñoz, Begoña, Garcia, Esperanza, Paz Y. Miño, Fernanda, Borobio, Virginia, Gomez, Olga, Eixarch, Elisenda, Lopez, Monica, Comas Rovira, Montserrat, Borrell, Antoni
Published in Fetal diagnosis and therapy (01.12.2021)

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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer

by Campos, Berta, Balmaña, Judith, Gardenyes, Josep, Valenzuela, Irene, Abad, Oscar, Fàbregas, Pere, Volpini, Víctor, Díez, Orland
Published in Breast cancer research and treatment (01.06.2013)

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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32

by Serrano-Munuera, Carmen, Corral-Juan, Marc, Stevanin, Giovanni, San Nicolás, Hector, Roig, Carles, Corral, Jordi, Campos, Berta, de Jorge, Laura, Morcillo-Suárez, Carlos, Navarro, Arcadi, Forlani, Sylvie, Durr, Alexandra, Kulisevsky, Jaime, Brice, Alexis, Sánchez, Ivelisse, Volpini, Victor, Matilla-Dueñas, Antoni
Published in JAMA neurology (01.06.2013)

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

by Díez, Orland, Osorio, Ana, Durán, Mercedes, Martinez-Ferrandis, José Ignacio, Hoya, Miguel de la, Salazar, Raquel, Vega, Ana, Campos, Berta, Rodríguez-López, Raquel, Velasco, Eladio, Chaves, Javier, Díaz-Rubio, Eduardo, Jesús Cruz, Juan, Torres, María, Esteban, Eva, Cervantes, Andrés, Alonso, Carmen, San Román, Juan Manuel, González-Sarmiento, Rogelio, Miner, Cristina, Carracedo, Angel, Eugenia Armengod, María, Caldés, Trinidad, Benítez, Javier, Baiget, Montserrat
Published in Human mutation (01.10.2003)

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RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain

by Campos, Berta, Díez, Orland, Domènech, Montserrat, Baena, Manel, Balmaña, Judith, Sanz, Judit, Ramírez, Amaya, Alonso, Carmen, Baiget, Montserrat
Published in Human mutation (01.10.2003)

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The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

by Vega, Ana, Campos, Berta, Bressac-de-Paillerets, Brigitte, Bond, Patricia M., Janin, Nicolas, Douglas, Fiona S., Domènech, Montserrat, Baena, Manel, Pericay, Carles, Alonso, Carmen, Carracedo, Angel, Baiget, Montserrat, Diez, Orland
Published in Human mutation (01.06.2001)

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The effectiveness of diacutaneous fibrolysis on pain, range of motion and functionality in musculoskeletal disorders: A systematic review and meta-analysis

The effectiveness of diacutaneous fibrolysis on pain, range of motion and functionality in musculoskeletal disorders: A systematic review and meta-analysis

by Cadellans-Arróniz, Aida, Llurda-Almuzara, Luis, Campos-Laredo, Berta, Cabanas-Valdés, Rosa, Garcia-Sutil, Alex, López-de-Celis, Carlos
Published in Clinical rehabilitation (01.04.2021)

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RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain: MUTATIONS IN BRIEF

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain: MUTATIONS IN BRIEF

by Campos, Berta, Díez, Orland, Domènech, Montserrat, Baena, Manel, Balmaña, Judith, Sanz, Judit, Ramírez, Amaya, Alonso, Carmen, Baiget, Montserrat
Published in Human mutation (01.10.2003)

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Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

by Campos, Berta, Díez, Orland, Odefrey, Fabrice, Domènech, Montserrat, Moncoutier, Virginie, Martínez-Ferrandis, José Ignacio, Osorio, Ana, Balmaña, Judith, Barroso, Alicia, Armengod, María Eugenia, Benítez, Javier, Alonso, Carmen, Stoppa-Lyonnet, Dominique, Goldgar, David, Baiget, Montserrat
Published in Human mutation (01.04.2003)

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Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles : an ascertainment bias phenomenon?

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles : an ascertainment bias phenomenon?

by BALMANA, Judith, DIEZ, Orland, CAMPOS, Berta, MAJEWSKI, Magdalena, SANZ, Judit, ALONSO, Carmen, BAIGET, Montserrat, GARBER, Judy E
Published in Breast cancer research and treatment (01.08.2005)

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Journal Article

Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report

by Biagetti, Betina, Valenzuela, Irene, Campos-Martorell, Ariadna, Campos, Berta, Hernandez, Sara, Giralt, Marina, Díaz-Troyano, Noelia, Iniesta-Serrano, Emilio, Yeste, Diego, Simó, Rafael
Published in Diagnostics (Basel, Switzerland) (04.07.2023)

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Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain: MUTATIONS IN BRIEF

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain: MUTATIONS IN BRIEF

by Campos, Berta, Díez, Orland, Odefrey, Fabrice, Domènech, Montserrat, Moncoutier, Virginie, Martínez-Ferrandis, José Ignacio, Osorio, Ana, Balmaña, Judith, Barroso, Alicia, Armengod, María Eugenia, Benítez, Javier, Alonso, Carmen, Stoppa-Lyonnet, Dominique, Goldgar, David, Baiget, Montserrat
Published in Human mutation (01.04.2003)

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects: BRCA1 AND BRCA2 MUTATIONS IN SPANISH FAMILIES

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects: BRCA1 AND BRCA2 MUTATIONS IN SPANISH FAMILIES

by Díez, Orland, Osorio, Ana, Durán, Mercedes, Martinez-Ferrandis, José Ignacio, Hoya, Miguel de la, Salazar, Raquel, Vega, Ana, Campos, Berta, Rodríguez-López, Raquel, Velasco, Eladio, Chaves, Javier, Díaz-Rubio, Eduardo, Jesús Cruz, Juan, Torres, María, Esteban, Eva, Cervantes, Andrés, Alonso, Carmen, San Román, Juan Manuel, González-Sarmiento, Rogelio, Miner, Cristina, Carracedo, Angel, Eugenia Armengod, María, Caldés, Trinidad, Benítez, Javier, Baiget, Montserrat
Published in Human mutation (01.10.2003)

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New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

by Serrano-Munuera, Carmen, Corral-Juan, Marc, Stevanin, Giovanni, San Nicolás, Hector, Roig, Carles, Corral, Jordi, Campos, Berta, de Jorge, Laura, Morcillo-Suárez, Carlos, Navarro, Arcadi, lani, Sylvie, Durr, Alexandra, Kulisevsky, Jaime, Brice, Alexis, Sánchez, Ivelisse, Volpini, Victor, Matilla-Dueñas, Antoni
Published in Archives of neurology (Chicago) (01.06.2013)

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