Works by Velasco, Eladio A.

Results: 47

Editorial: RNA Splicing and Backsplicing: Disease and Therapy.

Published in:

2020

By:

Asselta, Rosanna;
Duga, Stefano;
Velasco, Eladio Andrés;
Buratti, Emanuele

Publication type:

Editorial

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00169

By:

Gailite, Linda;
Valenzuela-Palomo, Alberto;
Sanoguera-Miralles, Lara;
Rots, Dmitrijs;
Kreile, Madara;
Velasco, Eladio A.

Publication type:

Article

High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

Published in:

Journal of Human Genetics, 2006, v. 51, n. 7, p. 611, doi. 10.1007/s10038-006-0404-7

By:

Infante, Mar;
Durán, Mercedes;
Esteban-Cardeñosa, Eva;
Miner, Cristina;
Velasco, Eladio

Publication type:

Article

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.

Published in:

Human Genomics, 2025, v. 19, n. 1, p. 1, doi. 10.1186/s40246-024-00714-5

By:

Fortuno, Cristina;
Llinares-Burguet, Inés;
Canson, Daffodil M.;
de la Hoya, Miguel;
Bueno-Martínez, Elena;
Sanoguera-Miralles, Lara;
Caldes, Sonsoles;
James, Paul A.;
Velasco-Sampedro, Eladio A.;
Spurdle, Amanda B.

Publication type:

Article

Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 2, p. 257, doi. 10.1093/hmg/5.2.257

By:

Velasco, Eladio;
Valero, Carmen;
Valero, Ana;
Moreno, Felipe;
Hernández-Chico, Concepción

Publication type:

Article

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.

Published in:

Breast Cancer Research & Treatment, 2012, v. 132, n. 1, p. 307, doi. 10.1007/s10549-011-1842-2

By:

Blanco, Ana;
Hoya, Miguel;
Balmaña, Judith;
Ramón y Cajal, Teresa;
Teulé, Alex;
Miramar, María-Dolores;
Esteban, Eva;
Infante, Mar;
Benítez, Javier;
Torres, Asunción;
Tejada, María-Isabel;
Brunet, Joan;
Graña, Begoña;
Balbín, Milagros;
Pérez-Segura, Pedro;
Osorio, Ana;
Velasco, Eladio;
Chirivella, Isabel;
Calvo, María-Teresa;
Feliubadaló, Lidia

Publication type:

Article

Two founder BRCA2 mutations predispose to breast cancer in young women.

Published in:

2010

By:

Infante, Mar;
Durán, Mercedes;
Lasa, Adriana;
Acedo, Alberto;
Hoya, Miguel;
Esteban-Cardeñosa, Eva;
Sanz, David;
Pérez-Cabornero, Lucia;
Lastra, Enrique;
Miner, Cristina;
Velasco, Eladio

Publication type:

Report

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.

Published in:

Breast Cancer Research & Treatment, 2010, v. 119, n. 1, p. 221, doi. 10.1007/s10549-009-0394-1

By:

Milne, Roger;
Osorio, Ana;
Ramón y Cajal, Teresa;
Baiget, Montserrat;
Lasa, Adriana;
Diaz-Rubio, Eduardo;
Hoya, Miguel;
Caldés, Trinidad;
Teulé, Alex;
Lázaro, Conxi;
Blanco, Ignacio;
Balmaña, Judith;
Sánchez-Ollé, Gessamí;
Vega, Ana;
Blanco, Ana;
Chirivella, Isabel;
Esteban Cardeñosa, Eva;
Durán, Mercedes;
Velasco, Eladio;
Martínez de Dueñas, Eduardo

Publication type:

Article

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain.

Published in:

Breast Cancer Research & Treatment, 2008, v. 112, n. 1, p. 69

By:

Eva Esteban Cardeñosa;
Pascual Bolufer Gilabert;
Sarai Palanca Suela;
Silvestre Oltra Soler;
Eva Barragán González;
Eladio Velasco Sampedro;
Isabel Chirivella González;
Ángel Segura Huerta;
Carmen Guillén Ponce;
Eduardo Martínez de Dueñas

Publication type:

Article

The Effect of Genistein Supplementation on Vitamin D Levels and Bone Turnover Markers during the Summer in Healthy Postmenopausal Women: Role of Genotypes of Isoflavone Metabolism.

Published in:

2018

By:

Pérez-alonso, María;
Briongos, Laisa-Socorro;
Ruiz-Mambrilla, Marta;
Velasco, Eladio a.;
Linares, Lidia;
Cuellar, Luis;
Olmos, José-Manuel;
De Luis, Daniel;
Dueñas-Laita, antonio;
Pérez-Castrillón, José-Luis

Publication type:

journal article

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 552

By:

Velasco, Eladio;
Sanchez-Corral, Pilar;
Moreno, Felipe;
de Cordoba, Santiago Rodriguez

Publication type:

Article

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.

Published in:

Cancers, 2020, v. 12, n. 12, p. 3771, doi. 10.3390/cancers12123771

By:

Sanoguera-Miralles, Lara;
Valenzuela-Palomo, Alberto;
Bueno-Martínez, Elena;
Llovet, Patricia;
Díez-Gómez, Beatriz;
Caloca, María José;
Pérez-Segura, Pedro;
Fraile-Bethencourt, Eugenia;
Colmena, Marta;
Carvalho, Sara;
Allen, Jamie;
Easton, Douglas F.;
Devilee, Peter;
Vreeswijk, Maaike P. G.;
de la Hoya, Miguel;
Velasco, Eladio A.

Publication type:

Article

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<FN ID="fn1">Communicated by Ellen Solomon</FN>.

Published in:

Human Mutation, 2003, v. 22, n. 4, p. 301, doi. 10.1002/humu.10260

By:

Orland Díez;
Ana Osorio;
Mercedes Durán;
José Ignacio Martinez-Ferrandis;
Miguel de la Hoya;
Raquel Salazar;
Ana Vega;
Berta Campos;
Raquel Rodríguez-López;
Eladio Velasco;
Javier Chaves;
Eduardo Díaz-Rubio;
Juan Jesús Cruz;
María Torres;
Eva Esteban;
Andrés Cervantes;
Carmen Alonso;
Juan Manuel San Román;
Rogelio González-Sarmiento;
Cristina Miner

Publication type:

Article

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #597 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126

By:

Mercedes Duran;
Eva Esteban-Cardeñosa;
Eladio Velasco;
Mar Infante;
Cristina Miner

Publication type:

Article

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla?Leon: Identification of four novel truncating mutationsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #597 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/597.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9126

By:

Mercedes Duran;
Eva Esteban?Cardeñosa;
Eladio Velasco;
Mar Infante;
Cristina Miner

Publication type:

Article

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.

Published in:

International Journal of Colorectal Disease, 2013, v. 28, n. 9, p. 1195, doi. 10.1007/s00384-013-1685-x

By:

Pérez-Cabornero, Lucía;
Infante, Mar;
Velasco, Eladio;
Lastra, Enrique;
Miner, Cristina;
Durán, Mercedes

Publication type:

Article

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

Published in:

Clinical Chemistry, 2024, v. 70, n. 1, p. 319, doi. 10.1093/clinchem/hvad125

By:

Sanoguera-Miralles, Lara;
Valenzuela-Palomo, Alberto;
Bueno-Martínez, Elena;
Esteban-Sánchez, Ada;
Lorca, Víctor;
Llinares-Burguet, Inés;
García-Álvarez, Alicia;
Pérez-Segura, Pedro;
Infante, Mar;
Easton, Douglas F;
Devilee, Peter;
Vreeswijk, Maaike P G;
de la Hoya, Miguel;
Velasco-Sampedro, Eladio A

Publication type:

Article

Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

Published in:

Cancers, 2024, v. 16, n. 21, p. 3562, doi. 10.3390/cancers16213562

By:

Llinares-Burguet, Inés;
Sanoguera-Miralles, Lara;
Valenzuela-Palomo, Alberto;
García-Álvarez, Alicia;
Bueno-Martínez, Elena;
Velasco-Sampedro, Eladio A.

Publication type:

Article

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.

Published in:

Cancers, 2022, v. 14, n. 18, p. N.PAG, doi. 10.3390/cancers14184541

By:

Valenzuela-Palomo, Alberto;
Sanoguera-Miralles, Lara;
Bueno-Martínez, Elena;
Esteban-Sánchez, Ada;
Llinares-Burguet, Inés;
García-Álvarez, Alicia;
Pérez-Segura, Pedro;
Gómez-Barrero, Susana;
de la Hoya, Miguel;
Velasco-Sampedro, Eladio A.

Publication type:

Article

Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.

Published in:

Cancers, 2022, v. 14, n. 12, p. 2960, doi. 10.3390/cancers14122960

By:

Sanoguera-Miralles, Lara;
Bueno-Martínez, Elena;
Valenzuela-Palomo, Alberto;
Esteban-Sánchez, Ada;
Llinares-Burguet, Inés;
Pérez-Segura, Pedro;
García-Álvarez, Alicia;
de la Hoya, Miguel;
Velasco-Sampedro, Eladio A.

Publication type:

Article

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Published in:

Cancers, 2021, v. 13, n. 11, p. 2845, doi. 10.3390/cancers13112845

By:

Bueno-Martínez, Elena;
Sanoguera-Miralles, Lara;
Valenzuela-Palomo, Alberto;
Lorca, Víctor;
Gómez-Sanz, Alicia;
Carvalho, Sara;
Allen, Jamie;
Infante, Mar;
Pérez-Segura, Pedro;
Lázaro, Conxi;
Easton, Douglas F.;
Devilee, Peter;
Vreeswijk, Maaike P. G.;
de la Hoya, Miguel;
Velasco, Eladio A.

Publication type:

Article

A Population-Based Analysis of BRCA1 / 2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Published in:

Cancers, 2021, v. 13, n. 9, p. 2192, doi. 10.3390/cancers13092192

By:

Park, Kyung-Sun;
Lee, Woochang;
Seong, Moon-Woo;
Kong, Sun-Young;
Lee, Kyung-A;
Ha, Jung-Sook;
Cho, Eun-Hae;
Han, Sung-Hee;
Park, Inho;
Kim, Jong-Won;
Velasco, Eladio A.;
Vreeswijk, Maaike P. G.;
De la Hoya, Miguel

Publication type:

Article

Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2 : Findings from the Australian Breast Cancer Family Registry.

Published in:

Cancers, 2021, v. 13, n. 6, p. 1378, doi. 10.3390/cancers13061378

By:

Nguyen-Dumont, Tú;
Dowty, James G.;
Steen, Jason A.;
Renault, Anne-Laure;
Hammet, Fleur;
Mahmoodi, Maryam;
Theys, Derrick;
Rewse, Amanda;
Tsimiklis, Helen;
Winship, Ingrid M.;
Giles, Graham G.;
Milne, Roger L.;
Hopper, John L.;
Southey, Melissa C.;
Velasco, Eladio A.;
Vreeswijk, Maaike P. G.;
De la Hoya, Miguel

Publication type:

Article

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Published in:

2012

By:

Acedo, Alberto;
Sanz, David J;
Durán, Mercedes;
Infante, Mar;
Pérez-Cabornero, Lucía;
Miner, Cristina;
Velasco, Eladio A

Publication type:

journal article

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

Published in:

Electrophoresis, 2005, v. 26, n. 13, p. 2539, doi. 10.1002/elps.200410425

By:

Eladio Velasco;
Mar Infante;
Mercedes Durán;
Eva Esteban-Cardeñosa;
Enrique Lastra;
Carlos García-Girón;
Cristina Miner

Publication type:

Article

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00188

By:

Fraile-Bethencourt, Eugenia;
Valenzuela-Palomo, Alberto;
Díez-Gómez, Beatriz;
Acedo, Alberto;
Velasco, Eladio A.

Publication type:

Article

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Published in:

Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00007

By:

Villate, Olatz;
Ibarluzea, Nekane;
Fraile-Bethencourt, Eugenia;
Valenzuela, Alberto;
Velasco, Eladio A.;
Grozeva, Detelina;
Raymond, F. L.;
Botella, María P.;
Tejada, María-Isabel

Publication type:

Article

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067538

By:

Blanco, Ana;
de la Hoya, Miguel;
Osorio, Ana;
Diez, Orland;
Miramar, María Dolores;
Infante, Mar;
Martinez-Bouzas, Cristina;
Torres, Asunción;
Lasa, Adriana;
Llort, Gemma;
Brunet, Joan;
Graña, Begoña;
Perez Segura, Pedro;
Garcia, María José;
Gutiérrez-Enríquez, Sara;
Carracedo, Ángel;
Tejada, María-Isabel;
Velasco, Eladio A.;
Calvo, María-Teresa;
Balmaña, Judith

Publication type:

Article

Association Between Bat Vitamin D Receptor 3′ Haplotypes and Vitamin D Levels at Baseline and a Lower Response After Increased Vitamin D Supplementation and Exposure to Sunlight.

Published in:

International Journal for Vitamin & Nutrition Research, 2020, v. 90, n. 3/4, p. 290, doi. 10.1024/0300-9831/a000534

By:

Pérez-Alonso, María;
Briongos, Laisa-Socorro;
Ruiz-Mambrilla, Marta;
Velasco, Eladio A.;
Olmos, José M.;
de Luis, Daniel;
Dueñas-Laita, Antonio;
Pérez-Castrillón, José-Luis

Publication type:

Article

Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.

Published in:

Breast Cancer Research & Treatment, 2018, v. 171, n. 1, p. 53, doi. 10.1007/s10549-018-4826-7

By:

Fraile-Bethencourt, Eugenia;
Valenzuela-Palomo, Alberto;
Díez-Gómez, Beatriz;
Infante, Mar;
Durán, Mercedes;
Marcos, Germán;
Lastra, Enrique;
Gómez-Barrero, Susana;
Velasco, Eladio A.

Publication type:

Article

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00498-0

By:

Canson, Daffodil M.;
Llinares-Burguet, Inés;
Fortuno, Cristina;
Sanoguera-Miralles, Lara;
Bueno-Martínez, Elena;
de la Hoya, Miguel;
Spurdle, Amanda B.;
Velasco-Sampedro, Eladio A.

Publication type:

Article

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Published in:

Carcinogenesis, 2013, v. 34, n. 11, p. 2505, doi. 10.1093/carcin/bgt272

By:

Infante, Mar;
Durán, Mercedes;
Acedo, Alberto;
Sánchez-Tapia, Eva María;
Díez-Gómez, Beatriz;
Barroso, Alicia;
García-González, María;
Feliubadaló, Lídia;
Lasa, Adriana;
de la Hoya, Miguel;
Esteban-Cardeñosa, Eva;
Díez, Orland;
Martínez-Bouzas, Cristina;
Godino, Javier;
Teulé, Alexandre;
Osorio, Ana;
Lastra, Enrique;
González-Sarmiento, Rogelio;
Miner, Cristina;
Velasco, Eladio A.

Publication type:

Article

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Published in:

PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006691

By:

Fraile-Bethencourt, Eugenia;
Díez-Gómez, Beatriz;
Velásquez-Zapata, Valeria;
Acedo, Alberto;
Sanz, David J.;
Velasco, Eladio A.

Publication type:

Article

Back Cover, Volume 39, Issue 9.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. ii, doi. 10.1002/humu.23618

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1155, doi. 10.1002/humu.23583

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 210, doi. 10.1002/humu.22725

By:

Acedo, Alberto;
Hernández‐Moro, Cristina;
Curiel‐García, Álvaro;
Díez‐Gómez, Beatriz;
Velasco, Eladio A.

Publication type:

Article

Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 53, doi. 10.1002/humu.22456

By:

Garibay, Gorka Ruiz;
Acedo, Alberto;
García‐Casado, Zaida;
Gutiérrez‐Enríquez, Sara;
Tosar, Alicia;
Romero, Atocha;
Garre, Pilar;
Llort, Gemma;
Thomassen, Mads;
Díez, Orland;
Pérez‐Segura, Pedro;
Díaz‐Rubio, Eduardo;
Velasco, Eladio A.;
Caldés, Trinidad;
Hoya, Miguel

Publication type:

Article

β2-Chimaerin Deficiency Favors Polyp Growth in the Colon of Apc Min/+ Mice.

Published in:

Molecules, 2025, v. 30, n. 4, p. 824, doi. 10.3390/molecules30040824

By:

Velasco-Sampedro, Eladio A.;
Sánchez-Vicente, Cristina;
Caloca, María J.

Publication type:

Article

β2-Chimaerin, a GTPase-Activating Protein for Rac1, Is a Novel Regulator of Hepatic Insulin Signaling and Glucose Metabolism.

Published in:

Molecules, 2024, v. 29, n. 22, p. 5301, doi. 10.3390/molecules29225301

By:

Carmona-Carmona, Cristian Andrés;
Zini, Pablo;
Velasco-Sampedro, Eladio A.;
Cózar-Castellano, Irene;
Perdomo, Germán;
Caloca, María J.

Publication type:

Article

Prevalence of CYP2C9 polymorphisms in the south of Europe.

Published in:

Pharmacogenomics Journal, 2009, v. 9, n. 5, p. 306, doi. 10.1038/tpj.2009.16

By:

Sánchez-Diz, Paula;
Estany-Gestal, Ana;
Aguirre, Carmelo;
Blanco, Adoración;
Carracedo, Angel;
Ibáñz, Luisa;
Passiu, Marianna;
Provezza, Lisa;
Ramos-Ruiz, Ricardo;
Ruiz, Borja;
Salado-Valdivieso, Inés;
Velasco, Eladio A.;
Figueiras, Adolfo

Publication type:

Article

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00503

By:

Fraile-Bethencourt, Eugenia;
Valenzuela-Palomo, Alberto;
Díez-Gómez, Beatriz;
Caloca, María José;
Gómez-Barrero, Susana;
Velasco, Eladio A.

Publication type:

Article

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants.

Published in:

Journal of Pathology, 2024, v. 262, n. 4, p. 395, doi. 10.1002/path.6243

By:

Sanoguera‐Miralles, Lara;
Llinares‐Burguet, Inés;
Bueno‐Martínez, Elena;
Ramadane‐Morchadi, Lobna;
Stuani, Cristiana;
Valenzuela‐Palomo, Alberto;
García‐Álvarez, Alicia;
Pérez‐Segura, Pedro;
Buratti, Emanuele;
de la Hoya, Miguel;
Velasco‐Sampedro, Eladio A

Publication type:

Article

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants.

Published in:

Journal of Pathology, 2022, v. 258, n. 1, p. 83, doi. 10.1002/path.5979

By:

Bueno‐Martínez, Elena;
Sanoguera‐Miralles, Lara;
Valenzuela‐Palomo, Alberto;
Esteban‐Sánchez, Ada;
Lorca, Víctor;
Llinares‐Burguet, Inés;
Allen, Jamie;
García‐Álvarez, Alicia;
Pérez‐Segura, Pedro;
Durán, Mercedes;
Easton, Douglas F;
Devilee, Peter;
Vreeswijk, Maaike PG;
de la Hoya, Miguel;
Velasco‐Sampedro, Eladio A

Publication type:

Article

Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants.

Published in:

Journal of Pathology, 2022, v. 256, n. 3, p. 321, doi. 10.1002/path.5839

By:

Valenzuela‐Palomo, Alberto;
Bueno‐Martínez, Elena;
Sanoguera‐Miralles, Lara;
Lorca, Víctor;
Fraile‐Bethencourt, Eugenia;
Esteban‐Sánchez, Ada;
Gómez‐Barrero, Susana;
Carvalho, Sara;
Allen, Jamie;
García‐Álvarez, Alicia;
Pérez‐Segura, Pedro;
Dorling, Leila;
Easton, Douglas F;
Devilee, Peter;
Vreeswijk, Maaike PG;
de la Hoya, Miguel;
Velasco, Eladio A

Publication type:

Article

Mis‐splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

Published in:

Journal of Pathology, 2019, v. 248, n. 4, p. 409, doi. 10.1002/path.5268

By:

Fraile‐Bethencourt, Eugenia;
Valenzuela‐Palomo, Alberto;
Díez‐Gómez, Beatriz;
Goina, Elisa;
Acedo, Alberto;
Buratti, Emanuele;
Velasco, Eladio A

Publication type:

Article

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Published in:

Respiratory Research, 2014, v. 15, n. 10, p. 1, doi. 10.1186/s12931-014-0125-y

By:

Lara, Beatriz;
Martínez, Maria Teresa;
Blanco, Ignacio;
Hernández-Moro, Cristina;
Velasco, Eladio A.;
Ferrarotti, Ilaria;
Rodriguez-Frias, Francisco;
Perez, Laura;
Vazquez, Irene;
Alonso, Javier;
Posada, Manuel;
Martínez-Delgado, Beatriz

Publication type:

Article

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Published in:

2014

By:

Lara, Beatriz;
Martínez, Maria Teresa;
Blanco, Ignacio;
Hernández-Moro, Cristina;
Velasco, Eladio A;
Ferrarotti, Ilaria;
Rodriguez-Frias, Francisco;
Perez, Laura;
Vazquez, Irene;
Alonso, Javier;
Posada, Manuel;
Martínez-Delgado, Beatriz

Publication type:

journal article