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Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: spangenberg l. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V, Dell'Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Raggio V, et al. Among authors: spangenberg l. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Raggio V, Graña M, Winiarski E, Mansilla S, Simoes C, Rodríguez S, Brandes M, Tapié A, Rodríguez L, Cibils L, Alonso M, Martínez J, Fernández-Calero T, Domínguez F, Mezquida MR, Castro L, Cerisola A, Naya H, Cassina A, Quijano C, Spangenberg L. Raggio V, et al. Among authors: spangenberg l. Hum Genomics. 2023 Feb 27;17(1):14. doi: 10.1186/s40246-023-00463-x. Hum Genomics. 2023. PMID: 36849973 Free PMC article.
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Spangenberg MN, Grille S, Simoes C, Brandes M, Garcia-Luna J, Catalán AI, Ranero S, Boada M, Brugnini A, Trias N, Lens D, Raggio V, Spangenberg L. Spangenberg MN, et al. Among authors: spangenberg l. Front Oncol. 2023 Sep 13;13:1248964. doi: 10.3389/fonc.2023.1248964. eCollection 2023. Front Oncol. 2023. PMID: 37781189 Free PMC article.
102 results