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Page 1
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Gómez-González C, Pizarro-Sánchez C, Rodríguez-Antolín C, Pascual-Pascual I, Garcia-Romero M, Rodriguez-Jiménez C, de Sancho-Martín R, Del Pozo-Mate Á, Solís-López M, Prior-de Castro C, Torres RJ. Gómez-González C, et al. Among authors: prior de castro c. Ann Hum Genet. 2022 May;86(3):109-118. doi: 10.1111/ahg.12455. Epub 2021 Dec 20. Ann Hum Genet. 2022. PMID: 34927723
Prenatal genetic diagnosis of monogenic diseases.
Prior-de Castro C, Gómez-González C, Rodríguez-López R, Macher HC; Prenatal Diagnosis Commission and the Genetics Commission of the Spanish Society of Laboratory Medicine. Prior-de Castro C, et al. Adv Lab Med. 2023 Mar 24;4(1):28-51. doi: 10.1515/almed-2023-0024. eCollection 2023 Apr. Adv Lab Med. 2023. PMID: 37359899 Free PMC article.
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.
Prior-de Castro C, Martínez Gallego MÁ, Gómez-González C, de Sancho Martín R, Rodríguez-Antolín C, Rodríguez-Jiménez C, Del Pozo Mate Á, Zamarrón de Lucas E, Ruiz de Valbuena Maiz M, de Manuel Gómez C, Alcolea Batres S, Prados Sánchez MC, J Torres R. Prior-de Castro C, et al. J Cyst Fibros. 2024 Jul;23(4):788-795. doi: 10.1016/j.jcf.2023.12.007. Epub 2023 Dec 26. J Cyst Fibros. 2024. PMID: 38151412
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL. Caparros-Martin JA, et al. Among authors: prior de castro c. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116328 Free PMC article.
[Treatment of Lesch-Nyhan syndrome].
De Antonio I, Torres-Jiménez R, Verdú-Pérez A, Prior de Castro C, García-Puig J. De Antonio I, et al. Among authors: prior de castro c. Rev Neurol. 2002 Nov 1-15;35(9):877-83. Rev Neurol. 2002. PMID: 12436387 Free article. Review. Spanish.