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Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A, Loor K, Fernández-Alvarez P, Gartner S, Polverino E, Culebras M, Clofent D, García Arumí E, Tizzano EF, de Gracia J. Álvarez A, et al. Arch Bronconeumol (Engl Ed). 2020 Nov 26:S0300-2896(20)30519-6. doi: 10.1016/j.arbres.2020.11.002. Online ahead of print. Arch Bronconeumol (Engl Ed). 2020. PMID: 33358537 English, Spanish. No abstract available.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Abulí A, Costa-Roger M, Codina-Solà M, Valenzuela I, Leno-Colorado J, Rovira-Moreno E, Cueto-González A, Fernández-Álvarez P, García-Arumí E, Cuscó I, Tizzano EF. Abulí A, et al. Among authors: fernandez alvarez p. J Med Genet. 2023 Jun;60(6):540-546. doi: 10.1136/jmg-2022-108607. Epub 2022 Dec 8. J Med Genet. 2023. PMID: 36600615
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Cueto-González AM, Fernández-Álvarez P, Palafoll IV, Lasa-Aranzasti A, Vendrell Bayona T, Tizzano EF. Cueto-González AM, et al. Genet Med. 2022 Mar;24(3):754-756. doi: 10.1016/j.gim.2021.11.007. Epub 2021 Dec 6. Genet Med. 2022. PMID: 34906509 Free article. No abstract available.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF. Fernández-Álvarez P, et al. J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910934 Review.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF. Codina-Solà M, et al. Among authors: fernandez alvarez p. Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29. Eur J Hum Genet. 2023. PMID: 36446894 Free PMC article.
48 results