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Year Number of Results
2015 2
2017 1
2018 1
2020 2
2021 1
2022 3
2023 2
2024 1

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11 results

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Page 1
Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.
Fernández-Suárez E, González-Del Pozo M, García-Núñez A, Méndez-Vidal C, Martín-Sánchez M, Mejías-Carrasco JM, Ramos-Jiménez M, Morillo-Sánchez MJ, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Fernández-Suárez E, et al. Among authors: martin sanchez m. Front Cell Dev Biol. 2023 Jul 21;11:1197744. doi: 10.3389/fcell.2023.1197744. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37547476 Free PMC article.
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. Bravo-Gil N, et al. Among authors: martin sanchez m. Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937. Sci Rep. 2017. PMID: 28157192 Free PMC article.
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M, Fernández-Suárez E, Bravo-Gil N, Méndez-Vidal C, Martín-Sánchez M, Rodríguez-de la Rúa E, Ramos-Jiménez M, Morillo-Sánchez MJ, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: martin sanchez m. NPJ Genom Med. 2022 Mar 4;7(1):17. doi: 10.1038/s41525-022-00286-0. NPJ Genom Med. 2022. PMID: 35246562 Free PMC article.
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
González-Del Pozo M, Fernández-Suárez E, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: martin sanchez m. J Transl Med. 2020 Feb 12;18(1):73. doi: 10.1186/s12967-020-02258-3. J Transl Med. 2020. PMID: 32050993 Free PMC article.
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G. González-Del Pozo M, et al. Among authors: martin sanchez m. Sci Rep. 2018 Sep 6;8(1):13312. doi: 10.1038/s41598-018-31511-5. Sci Rep. 2018. PMID: 30190494 Free PMC article.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
Luzón-Toro B, Bleda M, Navarro E, García-Alonso L, Ruiz-Ferrer M, Medina I, Martín-Sánchez M, Gonzalez CY, Fernández RM, Torroglosa A, Antiñolo G, Dopazo J, Borrego S. Luzón-Toro B, et al. Among authors: martin sanchez m. BMC Med Genomics. 2015 Dec 21;8:83. doi: 10.1186/s12920-015-0160-7. BMC Med Genomics. 2015. PMID: 26690675 Free PMC article.
11 results