de Brasi C - Search Results

1

A foundation to better care: Target product profile for haemophilia and Von Willebrand disease point-of-care diagnostics in low-resource settings.

Hagembe J, Toulon P, Haffar A, Baumann A, Bowyer A, Montalvao S, Gouider E, de Brasi C, Dong C, Pierce GF. Hagembe J, et al. Among authors: de brasi c. Haemophilia. 2023 Sep;29(5):1376-1381. doi: 10.1111/hae.14853. Epub 2023 Sep 1. Haemophilia. 2023. PMID: 37655507 No abstract available.

2

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Radic CP, Abelleyro MM, Ziegler B, Marchione VD, Nevado J, Lapunzina P, Sciuccati G, Neme D, Rossetti LC, Bonduel M, De Brasi CD. Radic CP, et al. Among authors: de brasi cd. Haemophilia. 2023 May;29(3):844-854. doi: 10.1111/hae.14779. Epub 2023 Mar 17. Haemophilia. 2023. PMID: 36930806

3

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Ziegler BM, Abelleyro MM, Marchione VD, Lazarte N, Ledesma MM, Elhelou L, Neme D, Rossetti LC, Medina-Acosta E, Giliberto F, De Brasi C, Radic CP. Ziegler BM, et al. Among authors: de brasi c. J Med Genet. 2024 Jul 19;61(8):769-776. doi: 10.1136/jmg-2024-109902. J Med Genet. 2024. PMID: 38719348

4

Assessment of interleukin-10 promoter variant (-1082A/G) and cytokine production in patients with hemolytic uremic syndrome.

Mongelos MA, Sosa FN, Pineda GE, Fiorentino G, Santiago A, Abelleyro MM, Rossetti LC, Exeni R, De Brasi CD, Palermo MS, Ramos MV. Mongelos MA, et al. Among authors: de brasi cd. Front Pediatr. 2023 Jun 23;11:1210158. doi: 10.3389/fped.2023.1210158. eCollection 2023. Front Pediatr. 2023. PMID: 37425258 Free PMC article.

5

Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept.

Gutiérrez LG, Abelleyro MM, Ruiz MS, Anchordoqui MS, Freitas J, Bianchini M, De Brasi CD, Larripa IB. Gutiérrez LG, et al. Among authors: de brasi cd. Clin Chem Lab Med. 2021 Jun 23;59(12):e449-e453. doi: 10.1515/cclm-2020-1482. Print 2021 Nov 25. Clin Chem Lab Med. 2021. PMID: 34162038 No abstract available.

6

Analysis of complex structural variants in the DMD gene in one family.

Luce L, Abelleyro MM, Carcione M, Mazzanti C, Rossetti L, Radic P, Szijan I, Menazzi S, Francipane L, Nevado J, Lapunzina P, De Brasi C, Giliberto F. Luce L, et al. Among authors: de brasi c. Neuromuscul Disord. 2021 Mar;31(3):253-263. doi: 10.1016/j.nmd.2020.11.015. Epub 2020 Dec 6. Neuromuscul Disord. 2021. PMID: 33451931

7

Type 2N von Willebrand disease: Is it always a recessive trait?

Woods AI, Rossetti LC, Paiva J, De Brasi CD, Romero ML, Casinelli MM, Blanco AN, Sánchez-Luceros A. Woods AI, et al. Among authors: de brasi cd. Thromb Res. 2021 Feb;198:49-51. doi: 10.1016/j.thromres.2020.11.029. Epub 2020 Nov 28. Thromb Res. 2021. PMID: 33285477 No abstract available.

8

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.

Abelleyro MM, Radic CP, Marchione VD, Waisman K, Tetzlaff T, Neme D, Rossetti LC, De Brasi CD. Abelleyro MM, et al. Among authors: de brasi cd. Hum Mutat. 2020 Apr;41(4):825-836. doi: 10.1002/humu.23977. Epub 2020 Jan 16. Hum Mutat. 2020. PMID: 31898853

9

Cytokines use different intracellular mechanisms to upregulate the membrane expression of CX₃CR1 in human monocytes.

Panek CA, Bruballa AC, Pineda GE, De Brasi C, Fernández-Brando RJ, Mejías MP, Ramos MV, Palermo MS. Panek CA, et al. Among authors: de brasi c. Mol Immunol. 2019 Apr;108:23-33. doi: 10.1016/j.molimm.2019.01.003. Epub 2019 Feb 16. Mol Immunol. 2019. PMID: 30776726

10

Single nucleotide polymorphism in PTEN-Long gene: A risk factor in chronic myeloid leukemia.

Ferri C, Weich N, Gutiérrez L, De Brasi C, Bengió MR, Zapata P, Fundia A, Larripa I. Ferri C, et al. Among authors: de brasi c. Gene. 2019 Apr 30;694:71-75. doi: 10.1016/j.gene.2019.01.038. Epub 2019 Feb 7. Gene. 2019. PMID: 30738963

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

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

50 results

Search Page

Filters