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Page 1
Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, Zaiat J, Biagioli G, Fernandez C, Turjanski A, Campbell AJ, Mercado G, Marti MA. Mendez R, et al. Among authors: biagioli g. Ophthalmic Genet. 2021 Jun;42(3):291-295. doi: 10.1080/13816810.2021.1888129. Epub 2021 Feb 18. Ophthalmic Genet. 2021. PMID: 33599182
Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report.
Buda G, Valdez RM, Biagioli G, Olivieri FA, Affranchino N, Bouso C, Lotersztein V, Bogunovic D, Bustamante J, Martí MA. Buda G, et al. Among authors: biagioli g. Allergy Asthma Clin Immunol. 2020 Sep 3;16:77. doi: 10.1186/s13223-020-00473-7. eCollection 2020. Allergy Asthma Clin Immunol. 2020. PMID: 32944031 Free PMC article.
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
Calandra CR, Buda G, Vishnopolska SA, Oliveri J, Olivieri FA, Pérez Millán MI, Biagioli G, Miquelini LA, Pellene AL, Marti MA. Calandra CR, et al. Among authors: biagioli g. Parkinsonism Relat Disord. 2020 Apr;73:52-54. doi: 10.1016/j.parkreldis.2020.03.020. Epub 2020 Mar 24. Parkinsonism Relat Disord. 2020. PMID: 32248051 No abstract available.
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Calandra CR, Mocarbel Y, Vishnopolska SA, Toneguzzo V, Oliveri J, Cazado EC, Biagioli G, Turjanksi AG, Marti M. Calandra CR, et al. Among authors: biagioli g. Mov Disord Clin Pract. 2019 Jan 16;6(3):259-262. doi: 10.1002/mdc3.12721. eCollection 2019 Mar. Mov Disord Clin Pract. 2019. PMID: 30949559 Free PMC article. No abstract available.