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A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.
Della Valle A, Rossi BM, Palmero EI, Antelo M, Vaccaro CA, López-Kostner F, Alvarez K, Cruz-Correa M, Bruno LI, Forones NM, Mindiola JAR, Buleje J, Spirandelli F, Bohorquez M, Cock-Rada AM, Sullcahuaman Y, Nascimento I, Abe-Sandes K, Lino-Silva LS, Petracchi F, Mampel A, Rodriguez Y, Rossi NT, Yañez CB, Rubio C, Petta-Lajus TB, Silveira-Lucas EL, Jiménez G, Peña CMM, Reyes-Silva C, Ayala-Madrigal ML, Del Monte JS, Quispe R, Recalde A, Neffa F, Sarroca C, de Campos Reis Galvão H, Golubicki M, Piñero TA, Kalfayan PG, Ferro FA, Gonzalez ML, Pérez-Mayoral J, Pimenta CAM, Uyaban SPB, Protzel A, Chávez G, Dueñas M, Gil MLG, Spirandelli E, Chialina S, Echeverry M, Fuenmayor LJP, Torres M, Palma TFB, Héritas NC, Martin C, Suárez A, Vallejo M, Rafaela de Souza Timoteo A, Ayala CA, Jaramillo-Koupermann G, Hernández-Sandoval JA, Guerrero AH, Dominguez-Barrera C, Bazo-Alvarez JC, Wernhoff P, Plazzer JP, Balavarca Y, Hovig E, Møller P, Dominguez-Valentin M; collaboration with LA-GETH. Della Valle A, et al. Among authors: protzel a. Eur J Cancer. 2019 Sep;119:112-121. doi: 10.1016/j.ejca.2019.07.017. Epub 2019 Aug 20. Eur J Cancer. 2019. PMID: 31442815
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita ML, Huaman-Dianderas F, Obispo D, Sánchez R, Barrenechea V, Rojas-Málaga D, Estrada-Cuzcano A, Trubnykova M, Cornejo-Olivas M, Marca V, Gallardo B, Dueñas-Roque M, Protzel A, Castañeda C, Abarca H, Celis L, La Serna-Infantes J, Fujita R. Guevara-Fujita ML, et al. Among authors: protzel a. Mol Genet Genomic Med. 2021 Sep;9(9):e1759. doi: 10.1002/mgg3.1759. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34327855 Free PMC article.
[Mucopolysaccharidosis I, Hurler syndrome: a case report].
Amorín M, Carlin A, Prötzel A. Amorín M, et al. Among authors: protzel a. Arch Argent Pediatr. 2012 Oct;110(5):e103-6. doi: 10.5546/aap.2012.e103. Arch Argent Pediatr. 2012. PMID: 23070190 Free article. Spanish.
Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family.
Zevallos-Morales A, Murillo A, Dueñas-Roque MM, Prötzel A, Venegas-Tresierra L, Ángeles-Villalba V, Guevara-Cruz M, Chávez-Gil A, Fujita R, Guevara-Fujita ML. Zevallos-Morales A, et al. Among authors: protzel a. Genet Mol Biol. 2020 Feb 27;43(1):e20190126. doi: 10.1590/1678-4685-GMB-2019-0126. eCollection 2020. Genet Mol Biol. 2020. PMID: 32105286 Free PMC article.
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Pineda T, Marie S, Gonzalez J, García AL, Acosta A, Morales M, Correa LN, Vivas R, Escobar X, Protzel A, Barba M, Ospina S, Corredor C, Mansilla S, Velasco HM. Pineda T, et al. Among authors: protzel a. Mol Genet Metab Rep. 2014 Oct 30;1:468-473. doi: 10.1016/j.ymgmr.2014.10.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896125 Free PMC article.
15 results