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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: cigudosa jc. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: cigudosa jc. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: cigudosa jc. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Recommendations for the use of microarrays in prenatal diagnosis.
Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos. Suela J, et al. Among authors: cigudosa jc. Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. Med Clin (Barc). 2017. PMID: 28233562 English, Spanish.
Molecular cytogenetic characterization of rhabdomyosarcoma cell lines.
Rodriguez-Perales S, Martínez-Ramírez A, de Andrés SA, Valle L, Urioste M, Benítez J, Cigudosa JC. Rodriguez-Perales S, et al. Among authors: cigudosa jc. Cancer Genet Cytogenet. 2004 Jan 1;148(1):35-43. doi: 10.1016/s0165-4608(03)00216-4. Cancer Genet Cytogenet. 2004. PMID: 14697639
Are ER+PR+ and ER+PR- breast tumors genetically different? A CGH array study.
Carracedo A, Salido M, Corominas JM, Rojo F, Ferreira BI, Suela J, Tusquets I, Corzo C, Segura M, Espinet B, Cigudosa JC, Arumi M, Albanell J, Serrano S, Solé F. Carracedo A, et al. Among authors: cigudosa jc. Cancer Genet. 2012 Apr;205(4):138-46. doi: 10.1016/j.cancergen.2012.01.001. Cancer Genet. 2012. PMID: 22559974
184 results