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Ophthalmic genetics in South America.
Daich Varela M, Moya R, Schlottmann PG, Hufnagel RB, Arberas C, Fernández FM, Inga ME, Lores J, Pachajoa H, Prada CE, Sallum JMF. Daich Varela M, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):753-761. doi: 10.1002/ajmg.c.31832. Epub 2020 Aug 28. Am J Med Genet C Semin Med Genet. 2020. PMID: 32856789 Free PMC article.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Daich Varela M, et al. Ophthalmology. 2020 Dec;127(12):1772-1774. doi: 10.1016/j.ophtha.2020.05.028. Epub 2020 May 17. Ophthalmology. 2020. PMID: 32434002 Free PMC article.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: daich varela m. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP. Daich Varela M, et al. Ophthalmic Genet. 2021 Jun;42(3):320-325. doi: 10.1080/13816810.2021.1888127. Epub 2021 Mar 15. Ophthalmic Genet. 2021. PMID: 33719903 Free PMC article.
Multimodal evaluation of osteosarcoma choroidal metastasis.
Fernández Mancebo FM, Inga ME, Daich Varela M. Fernández Mancebo FM, et al. Among authors: daich varela m. Eur J Ophthalmol. 2023 Sep;33(5):NP137-NP139. doi: 10.1177/11206721221123880. Epub 2022 Sep 4. Eur J Ophthalmol. 2023. PMID: 36062609 Free PMC article.
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG, Luna JD, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro EI, Álvarez Mendiara A, Picotti CP, Chirino Misisian A, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri JE, Alcoba E, Fernández Gabrielli L, Ávila S, Aucar ME, Martin DM, Ormaechea GJ, Inga ME, Francone AA, Charles M, Zompa T, Pérez PJ, Lotersztein V, Nuova PJ, Canonero IB, Mahroo OA, Michaelides M, Arno G, Daich Varela M. Schlottmann PG, et al. Among authors: daich varela m. NPJ Genom Med. 2023 May 22;8(1):8. doi: 10.1038/s41525-023-00352-1. NPJ Genom Med. 2023. PMID: 37217489 Free PMC article.
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M, Moya R, Azevedo Souza Amaral R, Schlottmann PG, Álvarez Mendiara A, Francone A, Guazi Resende R, Capalbo L, Gelvez N, López G, Morales-Acevedo AM, Ossa RH, Arno G, Michaelides M, Tamayo ML, Ferraz Sallum JM. Daich Varela M, et al. Ophthalmol Retina. 2024 Feb;8(2):163-173. doi: 10.1016/j.oret.2023.09.007. Epub 2023 Sep 13. Ophthalmol Retina. 2024. PMID: 37714431 Free article.
37 results