Publicaciones (25) Publicaciones de ELENA BUENO MARTINEZ

2024

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

    Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409

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

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

2023

  1. Predominantly Pro-Inflammatory Phenotype with Mixed M1/M2 Polarization of Peripheral Blood Classical Monocytes and Monocyte-Derived Macrophages among Patients with Excessive Ethanol Intake

    Antioxidants, Vol. 12, Núm. 9

  2. The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

    Endocrine, Vol. 80, Núm. 1, pp. 47-53

2022

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

    Cancers, Vol. 14, Núm. 12

  2. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

    Endocrine, Vol. 77, Núm. 1, pp. 86-101

  3. Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development

    BMC Cancer, Vol. 22, Núm. 1

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

    Cancers, Vol. 14, Núm. 18

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

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2020

  1. Multiple familial trichoepitheliomas: Ultrasonographic findings

    Skin Research and Technology

2019

  1. Comparative genomic hybridization analysis of basal cell carcinoma

    JDDG - Journal of the German Society of Dermatology

2018

  1. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

    British Journal of Dermatology, Vol. 179, Núm. 4, pp. 933-939

  2. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

    Molecular and Cellular Endocrinology, Vol. 473, pp. 1-16

  3. Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

    British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206

2017

  1. A case of mosaicism in ectodermal dysplasia–skin fragility syndrome

    British Journal of Dermatology

  2. Familial seborrhoeic keratosis associated with multiple ‘pure reticulated acanthomas’ and infundibulocystic basal cell carcinomas

    British Journal of Dermatology, Vol. 177, Núm. 6, pp. 1654-1663

  3. Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome

    Journal of the European Academy of Dermatology and Venereology

2016

  1. Acral peeling skin syndrome resulting from mutations in TGM5

    Journal of the European Academy of Dermatology and Venereology

2015

  1. A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers

    European Journal of Medical Genetics, Vol. 58, Núm. 1, pp. 35-38

  2. Emopamil binding protein mutation in Conradi-Hünermann-Happle syndrome representing plaque-type psoriasis

    Indian Journal of Dermatology, Vol. 60, Núm. 2, pp. 216