A. Tenés

发表

Fragmentation effects on wildlife habitats of planned transport infrastructure in protected metropolitan greenspace. The case of Barcelona, Spain

S. Cahill, A. Tenés, F. Llimona, 2007 .

Predicting fragmentation effects of future planned infrastructure on wildlife habitats in protected metropolitan greenspace. The case of Collserola Park in Barcelona

S. Cahill, A. Tenés, F. Llimona, 2003 .

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

F. Couch, A. Spurdle, M. Southey, 2014, Clinical chemistry.

Novel BRCA 1 deleterious mutation ( c . 1949 _ 1950 delTA ) in a woman of Senegalese descent with triple-negative early-onset breast cancer

O. Díez, S. Gutiérrez‐Enríquez, J. Balmaña, 2011 .

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family

O. Díez, S. Gutiérrez‐Enríquez, G. Llort, 2010, Breast Cancer Research and Treatment.

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2013, Gynecologic oncology.

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

B. Puisac, M. Arnedo, P. Gómez-Puertas, 2022, Genes.

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

F. Mancuso, S. Bonache, O. Díez, 2018, Journal of Cancer Research and Clinical Oncology.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

J. Benítez, A. Osorio, T. Ramón Y Cajal, 2014, International journal of cancer.

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Journal of Medical Genetics.

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.

O. Díez, S. Gutiérrez‐Enríquez, J. Balmaña, 2011, Oncology letters.

High prevalence of BRCA1/2 germline mutations in female breast cancer patients with triple-negative phenotype (TNBC) and family history.

J. Baselga, O. Díez, S. Gutiérrez‐Enríquez, 2010 .

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Breast Cancer Research and Treatment.

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

O. Díez, S. Gutiérrez‐Enríquez, J. Balmaña, 2021, Cancers.

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2019, Human mutation.

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

Orland Diez, Judith Balmaña, S. Bonache, 2013, Journal of Cancer Research and Clinical Oncology.

An integral approach to the molecular diagnosis of tuberous sclerosis complex: the role of mosaicism and splicing variants.

E. Tizzano, E. García-Arumí, A. Tenés, 2023, The Journal of molecular diagnostics : JMD.

S. Bonache, O. Díez, J. Balmaña, 2019 .

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

F. Couch, A. Spurdle, M. Southey, 2014, Clinical chemistry.