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Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29.
Epilepsia. 2024.
PMID: 38135915
Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ, Souto-Trinei FA, Iglesias E, Caamaño P, Rodríguez Sánchez B, Gómez Lado C, Eiris J, Fernández-Prieto M, Barros F, Brea RJ, Carracedo Á.
Brea-Fernández AJ, et al.
Cytogenet Genome Res. 2023;163(5-6):301-306. doi: 10.1159/000535660. Epub 2023 Dec 6.
Cytogenet Genome Res. 2023.
PMID: 38056433
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Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ, Álvarez-Barona M, Amigo J, Tubío-Fungueiriño M, Caamaño P, Fernández-Prieto M, Barros F, De Rubeis S, Buxbaum J, Carracedo Á.
Brea-Fernández AJ, et al.
Eur J Hum Genet. 2022 Aug;30(8):938-945. doi: 10.1038/s41431-022-01087-w. Epub 2022 Mar 23.
Eur J Hum Genet. 2022.
PMID: 35322241
Free PMC article.
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M.
Ebrahimi-Fakhari D, et al. Among authors: brea fernandez aj.
Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307.
Brain. 2020.
PMID: 32979048
Free PMC article.
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Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
Brea-Fernández AJ, Cabanas P, Dacruz-Álvarez D, Caamaño P, Limeres J, Loidi L.
Brea-Fernández AJ, et al.
J Hum Genet. 2019 Nov;64(11):1133-1136. doi: 10.1038/s10038-019-0664-7. Epub 2019 Sep 3.
J Hum Genet. 2019.
PMID: 31481716
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Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C.
Brea-Fernandez AJ, et al.
Clin Transl Oncol. 2017 May;19(5):625-632. doi: 10.1007/s12094-016-1576-z. Epub 2016 Nov 25.
Clin Transl Oncol. 2017.
PMID: 27888432
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
Brea-Fernández AJ, Cameselle-Teijeiro JM, Alenda C, Fernández-Rozadilla C, Cubiella J, Clofent J, Reñé JM, Anido U, Milá M, Balaguer F, Castells A, Castellvi-Bel S, Jover R, Carracedo A, Ruiz-Ponte C.
Brea-Fernández AJ, et al.
Clin Genet. 2014 Jun;85(6):583-8. doi: 10.1111/cge.12232. Epub 2013 Jul 28.
Clin Genet. 2014.
PMID: 23837913
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Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.
Brea-Fernández AJ, Pomares E, Brión MJ, Marfany G, Blanco MJ, Sánchez-Salorio M, González-Duarte R, Carracedo A.
Brea-Fernández AJ, et al.
Br J Ophthalmol. 2008 Oct;92(10):1419-23. doi: 10.1136/bjo.2008.139204.
Br J Ophthalmol. 2008.
PMID: 18815424
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