Fernández C - Search Results

1

RB1 germ-line deletions in Argentine retinoblastoma patients.

Fernández C, Repetto K, Dalamon V, Bergonzi F, Ferreiro V, Szijan I. Fernández C, et al. Mol Diagn Ther. 2007;11(1):55-61. doi: 10.1007/BF03256222. Mol Diagn Ther. 2007. PMID: 17286450

2

Detection of germline mutations in argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation.

Dalamón V, Surace E, Giliberto F, Ferreiro V, Fernandez C, Szijan I. Dalamón V, et al. Among authors: fernandez c. J Biochem Mol Biol. 2004 Mar 31;37(2):246-53. doi: 10.5483/bmbrep.2004.37.2.246. J Biochem Mol Biol. 2004. PMID: 15469703

3

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

Minutolo C, Nadra AD, Fernández C, Taboas M, Buzzalino N, Casali B, Belli S, Charreau EH, Alba L, Dain L. Minutolo C, et al. Among authors: fernandez c. PLoS One. 2011 Jan 11;6(1):e15899. doi: 10.1371/journal.pone.0015899. PLoS One. 2011. PMID: 21264314 Free PMC article.

4

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.

Fernández CS, Bruque CD, Taboas M, Buzzalino ND, Espeche LD, Pasqualini T, Charreau EH, Alba LG, Ghiringhelli PD, Dain L. Fernández CS, et al. Endocrine. 2015 Sep;50(1):72-8. doi: 10.1007/s12020-015-0680-0. Epub 2015 Jul 17. Endocrine. 2015. PMID: 26184415

5

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.

Taboas M, Fernández C, Belli S, Buzzalino N, Alba L, Dain L. Taboas M, et al. Among authors: fernandez c. Case Rep Genet. 2013;2013:143781. doi: 10.1155/2013/143781. Epub 2013 Jul 7. Case Rep Genet. 2013. PMID: 23936690 Free PMC article.

6

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

Pasqualini T, Alonso G, Tomasini R, Galich AM, Buzzalino N, Fernandez C, Minutolo C, Alba L, Dain L. Pasqualini T, et al. Among authors: fernandez c. Medicina (B Aires). 2007;67(3):253-61. Medicina (B Aires). 2007. PMID: 17628913

7

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: fernandez c. Ophthalmic Genet. 2021 Feb 18:1-5. doi: 10.1080/13816810.2021.1888129. Online ahead of print. Ophthalmic Genet. 2021. PMID: 33599182

8

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Bruque CD, Delea M, Fernández CS, Orza JV, Taboas M, Buzzalino N, Espeche LD, Solari A, Luccerini V, Alba L, Nadra AD, Dain L. Bruque CD, et al. Sci Rep. 2016 Dec 14;6:39082. doi: 10.1038/srep39082. Sci Rep. 2016. PMID: 27966633 Free PMC article.

9

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L. Simonetti L, et al. Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29035424 Review.

10

Training "Pivots" from the Pandemic: Lessons Learned Transitioning from In-Person to Virtual Synchronous Training in the Clinical Scholars Leadership Program.

Fernandez CSP, Green MA, Noble CC, Brandert K, Donnald K, Walker MR, Henry E, Rosenberg A, Dave G, Corbie-Smith G. Fernandez CSP, et al. J Healthc Leadersh. 2021 Feb 17;13:63-75. doi: 10.2147/JHL.S282881. eCollection 2021. J Healthc Leadersh. 2021. PMID: 33628069 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results