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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
van der Laan L, Rooney K, Haghshenas S, Silva A, McConkey H, Relator R, Levy MA, Valenzuela I, Trujillano L, Lasa-Aranzasti A, Campos B, Castells N, Verberne EA, Maas S, Alders M, Mannens MMAM, van Haelst MM, Sadikovic B, Henneman P. van der Laan L, et al. Among authors: valenzuela i. Int J Mol Sci. 2023 Sep 18;24(18):14240. doi: 10.3390/ijms241814240. Int J Mol Sci. 2023. PMID: 37762546 Free PMC article.
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C. Varga RE, et al. Among authors: valenzuela i. Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23483706
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M. Gago-Díaz M, et al. Among authors: valenzuela i. Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. Clin Chim Acta. 2014. PMID: 25046559
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Tovy A, Rosas C, Gaikwad AS, Medrano G, Zhang L, Reyes JM, Huang YH, Arakawa T, Kurtz K, Conneely SE, Guzman AG, Aguilar R, Gao A, Chen CW, Kim JJ, Carter MT, Lasa-Aranzasti A, Valenzuela I, Van Maldergem L, Brunetti L, Hicks MJ, Marcogliese AN, Goodell MA, Rau RE. Tovy A, et al. Among authors: valenzuela i. Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990. Haematologica. 2022. PMID: 34092059 Free PMC article.
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
Franco-Jarava C, Valenzuela I, Riviere JG, Garcia-Prat M, Martínez-Gallo M, Dieli-Crimi R, Castells N, Batlle-Masó L, Soler-Palacin P, Colobran R. Franco-Jarava C, et al. Among authors: valenzuela i. Front Immunol. 2022 Jun 17;13:897975. doi: 10.3389/fimmu.2022.897975. eCollection 2022. Front Immunol. 2022. PMID: 35784294 Free PMC article.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: valenzuela i. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: valenzuela i. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Lucia-Campos C, Valenzuela I, Latorre-Pellicer A, Ros-Pardo D, Gil-Salvador M, Arnedo M, Puisac B, Castells N, Plaja A, Tenes A, Cuscó I, Trujillano L, Ramos FJ, Tizzano EF, Gómez-Puertas P, Pié J. Lucia-Campos C, et al. Among authors: valenzuela i. Genes (Basel). 2022 Aug 8;13(8):1413. doi: 10.3390/genes13081413. Genes (Basel). 2022. PMID: 36011323 Free PMC article.
107 results