Maneiro E - Search Results

1

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L. García-Giustiniani D, et al. Among authors: maneiro e. Heart. 2015 Jul;101(13):1047-53. doi: 10.1136/heartjnl-2014-307205. Epub 2015 May 2. Heart. 2015. PMID: 25935763 Free PMC article.

2

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

Rodríguez-García MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M. Rodríguez-García MI, et al. Among authors: maneiro e. BMC Med Genet. 2010 Apr 30;11:67. doi: 10.1186/1471-2350-11-67. BMC Med Genet. 2010. PMID: 20433692 Free PMC article.

3

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M. Rodriguez-Garcia MI, et al. Among authors: maneiro e. Hum Genet. 2010 Apr;127(4):483. Hum Genet. 2010. PMID: 21488259 No abstract available.

4

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M. Rodriguez-Garcia MI, et al. Among authors: maneiro e. Hum Genet. 2010 Apr;127(4):483. Hum Genet. 2010. PMID: 21488306 No abstract available.

5

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M. Rodriguez-Garcia MI, et al. Among authors: maneiro e. Hum Genet. 2010 Apr;127(4):484. Hum Genet. 2010. PMID: 21488307 No abstract available.

6

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M. Rodriguez-Garcia MI, et al. Among authors: maneiro e. Hum Genet. 2010 Apr;127(4):484. Hum Genet. 2010. PMID: 21488308 No abstract available.

7

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.

Torrado M, Maneiro E, Lamounier Junior A, Fernández-Burriel M, Sánchez Giralt S, Martínez-Carapeto A, Cazón L, Santiago E, Ochoa JP, McKenna WJ, Santomé L, Monserrat L. Torrado M, et al. Among authors: maneiro e. Sci Rep. 2022 May 4;12(1):7284. doi: 10.1038/s41598-022-11159-y. Sci Rep. 2022. PMID: 35508642 Free PMC article.

8

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Torrado M, Maneiro E, Trujillo-Quintero JP, Evangelista A, Mikhailov AT, Monserrat L. Torrado M, et al. Among authors: maneiro e. Biomed Res Int. 2018 May 29;2018:3536495. doi: 10.1155/2018/3536495. eCollection 2018. Biomed Res Int. 2018. PMID: 30003093 Free PMC article.

9

A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.

Vitale G, Pasquale F, Leone O, Cenacchi G, Niro F, Torrado M, Maneiro E, Graziosi M, Ditaranto R, Capelli I, Monserrat L, Rapezzi C, Biagini E. Vitale G, et al. Among authors: maneiro e. Can J Cardiol. 2020 Sep;36(9):1554.e1-1554.e3. doi: 10.1016/j.cjca.2020.04.008. Epub 2020 Apr 14. Can J Cardiol. 2020. PMID: 32710830

10

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Torrado M, Fernández G, Ganoza CA, Maneiro E, García D, Sonicheva-Paterson N, Rosa I, Ochoa JP, Santomé L, Vasichkina E, Monserrat L. Torrado M, et al. Among authors: maneiro e. NPJ Genom Med. 2021 Mar 4;6(1):21. doi: 10.1038/s41525-021-00183-y. NPJ Genom Med. 2021. PMID: 33664273 Free PMC article.

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