Medina-Acosta E - Search Results

1

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

Abelleyro MM, Marchione VD, Palmitelli M, Radic CP, Neme D, Larripa IB, Medina-Acosta E, De Brasi CD, Rossetti LC. Abelleyro MM, et al. Among authors: medina acosta e. Eur J Hum Genet. 2019 Apr;27(4):603-611. doi: 10.1038/s41431-018-0334-9. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626931 Free PMC article.

2

Improved criterion-referenced assessment in indirect tracking of haemophilia A using a 0.23 cM-resolution dense polymorphic marker set.

Machado FB, Duarte LP, Medina-Acosta E. Machado FB, et al. Haemophilia. 2009 Sep;15(5):1135-42. doi: 10.1111/j.1365-2516.2009.02056.x. Epub 2009 Jul 9. Haemophilia. 2009. PMID: 19624762

3

Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis.

Machado FB, Alves Da Silva AF, Rossetti LC, De Brasi CD, Medina-Acosta E. Machado FB, et al. Haemophilia. 2011 Mar;17(2):257-66. doi: 10.1111/j.1365-2516.2010.02404.x. Epub 2010 Nov 11. Haemophilia. 2011. PMID: 21070487

4

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.

Machado FB, Machado FB, Faria MA, Lovatel VL, Alves da Silva AF, Radic CP, De Brasi CD, Rios ÁF, de Sousa Lopes SM, da Silveira LS, Ruiz-Miranda CR, Ramos ES, Medina-Acosta E. Machado FB, et al. PLoS One. 2014 Jul 31;9(7):e103714. doi: 10.1371/journal.pone.0103714. eCollection 2014. PLoS One. 2014. PMID: 25078280 Free PMC article.

5

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.

Radic CP, Rossetti LC, Abelleyro MM, Tetzlaff T, Candela M, Neme D, Sciuccati G, Bonduel M, Medina-Acosta E, Larripa IB, de Tezanos Pinto M, De Brasi CD. Radic CP, et al. J Thromb Haemost. 2015 Apr;13(4):530-9. doi: 10.1111/jth.12854. Epub 2015 Mar 14. J Thromb Haemost. 2015. PMID: 25611311 Free article.

6

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: medina acosta e. J Med Genet. 2024 May 6:jmg-2024-109902. doi: 10.1136/jmg-2024-109902. Online ahead of print. J Med Genet. 2024. PMID: 38719348

7

High-resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection.

Machado FB, Medina-Acosta E. Machado FB, et al. Haemophilia. 2009 Jan;15(1):297-308. doi: 10.1111/j.1365-2516.2008.01866.x. Epub 2008 Aug 26. Haemophilia. 2009. PMID: 18752533

8

Interlocus non-random association of multiallelic polymorphisms spanning the coagulation factor VIII gene on human chromosome distalmost Xq28.

Medina-Acosta E. Medina-Acosta E. Haemophilia. 2010 May;16(3):525-37. doi: 10.1111/j.1365-2516.2009.02161.x. Epub 2009 Dec 9. Haemophilia. 2010. PMID: 20050928

9

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.

Agostinho Lde A, Rocha CF, Medina-Acosta E, Barboza HN, da Silva AF, Pereira SP, da Silva Idos S, Paradela ER, Figueiredo AL, Nogueira Ede M, Alvarenga RM, Hernan Cabello P, dos Santos SR, Paiva CL. Agostinho Lde A, et al. J Hum Genet. 2012 Dec;57(12):796-803. doi: 10.1038/jhg.2012.120. Epub 2012 Oct 11. J Hum Genet. 2012. PMID: 23051704

10

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

Santos-Rebouças CB, Belet S, Guedes de Almeida L, Ribeiro MG, Medina-Acosta E, Bahia PR, Alves da Silva AF, Lima dos Santos F, Borges de Lacerda GC, Pimentel MM, Froyen G. Santos-Rebouças CB, et al. Eur J Hum Genet. 2014 May;22(5):644-51. doi: 10.1038/ejhg.2013.216. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105372 Free PMC article.

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