Human and Mammalian Genetics (GHM)
Hospital General Universitario de Elche
Elche, EspañaPublications in collaboration with researchers from Hospital General Universitario de Elche (41)
2024
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Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
European Journal of Human Genetics, Vol. 32, Núm. 7, pp. 837-845
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Identification of new targets for glioblastoma therapy based on a DNA expression microarray
Computers in Biology and Medicine, Vol. 179
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
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Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318
2022
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Cell-free circulating tumor DNA in colorectal cancer: a proof of concept with simplified methodology
Clinical and Translational Oncology, Vol. 24, Núm. 10, pp. 1924-1931
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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
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Lynch-like Syndrome: Potential Mechanisms and Management
Cancers, Vol. 14, Núm. 5
2020
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Clinical and Pathological Characterization of Lynch-Like Syndrome
Clinical Gastroenterology and Hepatology, Vol. 18, Núm. 2, pp. 368-374.e1
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Differential effects of IGF-1R small molecule tyrosine kinase inhibitors BMS-754807 and OSI-906 on human cancer cell lines
Cancers, Vol. 12, Núm. 12, pp. 1-18
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Hereditary leiomyomatosis and renal cell cancer syndrome in spain: Clinical and genetic characterization
Cancers, Vol. 12, Núm. 11, pp. 1-16
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Risk of cancer in family members of patients with lynch-like syndrome
Cancers, Vol. 12, Núm. 8, pp. 1-12
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SEOM clinical guideline on hereditary colorectal cancer (2019)
Clinical and Translational Oncology, Vol. 22, Núm. 2, pp. 201-212
2019
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Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation
Clinical Epigenetics, Vol. 11, Núm. 1
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Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: Diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)
Hereditary Cancer in Clinical Practice, Vol. 17, Núm. 1
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Novel molecular characterization of colorectal primary tumors based on mirnas
Cancers, Vol. 11, Núm. 3
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Radiotherapy resistance acquisition in glioblastoma. Role of SOCS1 and SOCS3
PLoS ONE, Vol. 14, Núm. 2
2018
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A phylogenetic approach to the Philippines endemic centipedes of the genus Scolopendra Linnaeus, 1758 (Scolopendromorpha, Scolopendridae), with the description of a new species
Zootaxa, Vol. 4483, Núm. 3, pp. 401-427
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Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer
Medicina Clinica, Vol. 151, Núm. 2, pp. 80.e1-80.e10
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Successful induction therapy with sequential CVD followed by high-dose lanreotide in for metastatic SDHB paraganglioma: Case report
Journal of Clinical and Translational Endocrinology: Case Reports, Vol. 7, pp. 8-13
2017
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Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives
Gastroenterology, Vol. 153, Núm. 1, pp. 106-112.e2