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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 6
2006 10
2007 13
2008 20
2009 6
2010 5
2011 3
2012 2
2013 6
2014 4
2015 4
2016 4
2017 10
2018 7
2019 5
2020 2
2021 8
2022 5
2023 4
2024 1
2025 3

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116 results

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Page 1
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: vallespin e. Ann Neurol. 2025 Mar;97(3):561-570. doi: 10.1002/ana.27141. Epub 2025 Jan 3. Ann Neurol. 2025. PMID: 39749750 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Among authors: vallespin e. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE. Rodriguez-Zabala M, et al. Among authors: vallespin e. Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25. Hum Mutat. 2017. PMID: 28730625
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Parra A, Jimenez-Estrada JA, Vásquez-Amell V, Cazalla M, Rodríguez-Canó M, Gallego-Zazo N, Miranda L, Mora-Gómez M, Vallespín E, Mena R, Fernández L, Silván C, Arias P, Dominguez-Jiménez M, Guillén-Navarro E, Nevado J, Tenorio-Castano J, Ruiz-Pérez VL, Lapunzina P. Parra A, et al. Among authors: vallespin e. Clin Genet. 2025 Aug;108(2):224-226. doi: 10.1111/cge.14761. Epub 2025 May 8. Clin Genet. 2025. PMID: 40344221
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
González-Atienza C, Sánchez-Cazorla E, Villoldo-Fernández N, Del Hierro A, Boto A, Guerrero-Carretero M, Nieves-Moreno M, Arruti N, Rodríguez-Solana P, Mena R, Rodríguez-Jiménez C, Rosa-Pérez I, Acal JC, Blasco J, Naranjo-Castresana M, Ruz-Caracuel B, Montaño VEF, Ortega Patrón C, Rubio-Martín ME, García-Fernández L, Rikeros-Orozco E, Gómez-Cano MLÁ, Delgado-Mora L, Noval S, Vallespín E. González-Atienza C, et al. Among authors: vallespin e. Genes (Basel). 2023 Sep 22;14(10):1838. doi: 10.3390/genes14101838. Genes (Basel). 2023. PMID: 37895187 Free PMC article.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Among authors: vallespin e. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Gene symbol: CRB1.
Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Gimenez-Pardo A, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Hum Genet. 2007 Apr;121(2):297-8. Hum Genet. 2007. PMID: 17598245 No abstract available.
116 results