Alvarez-Mora MI - Search Results

1

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

Alvarez-Mora MI, Podlesniy P, Gelpi E, Hukema R, Madrigal I, Pagonabarraga J, Trullas R, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Genes Brain Behav. 2019 Jun;18(5):e12565. doi: 10.1111/gbb.12565. Epub 2019 May 24. Genes Brain Behav. 2019. PMID: 30887649 Free article.

2

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L, Mur A, Calvo D, Pascual I Bardají J, Milà M. Alvarez-Mora MI, et al. J Clin Pathol. 2012 Sep;65(9):844-6. doi: 10.1136/jclinpath-2011-200626. Epub 2012 Mar 29. J Clin Pathol. 2012. PMID: 22461651

3

High apolipoprotein E4 allele frequency in FXTAS patients.

Silva F, Rodriguez-Revenga L, Madrigal I, Alvarez-Mora MI, Oliva R, Milà M. Silva F, et al. Genet Med. 2013 Aug;15(8):639-42. doi: 10.1038/gim.2013.12. Epub 2013 Mar 14. Genet Med. 2013. PMID: 23492875 Free article.

4

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedländer MR, Martí E, Estivill X, Milà M. Alvarez-Mora MI, et al. Genes Brain Behav. 2013 Aug;12(6):595-603. doi: 10.1111/gbb.12061. Epub 2013 Jul 24. Genes Brain Behav. 2013. PMID: 23790110 Free article.

5

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.

Mateu-Huertas E, Rodriguez-Revenga L, Alvarez-Mora MI, Madrigal I, Willemsen R, Milà M, Martí E, Estivill X. Mateu-Huertas E, et al. Neurobiol Dis. 2014 May;65:43-54. doi: 10.1016/j.nbd.2013.12.020. Epub 2014 Jan 10. Neurobiol Dis. 2014. PMID: 24418349

6

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

Madrigal I, Alvarez-Mora MI, Karlberg O, Rodríguez-Revenga L, Elurbe DM, Rabionet R, Mur A, Pie J, Ballesta F, Sauer S, Syvänen AC, Milà M. Madrigal I, et al. J Clin Pathol. 2014 Dec;67(12):1099-103. doi: 10.1136/jclinpath-2014-202537. Epub 2014 Sep 30. J Clin Pathol. 2014. PMID: 25271213

7

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Milà M. Alvarez-Mora MI, et al. Gene. 2015 Oct 15;571(1):52-7. doi: 10.1016/j.gene.2015.06.039. Epub 2015 Jun 18. Gene. 2015. PMID: 26095811

8

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.

Alvarez-Mora MI, Rodriguez-Revenga L, Feliu A, Badenas C, Madrigal I, Milà M. Alvarez-Mora MI, et al. Neurodegener Dis. 2016;16(3-4):290-2. doi: 10.1159/000441566. Epub 2015 Nov 27. Neurodegener Dis. 2016. PMID: 26609701

9

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

Madrigal I, Alvarez-Mora MI, Rosell J, Rodríguez-Revenga L, Karlberg O, Sauer S, Syvänen AC, Mila M. Madrigal I, et al. Eur J Hum Genet. 2016 Aug;24(8):1117-23. doi: 10.1038/ejhg.2015.267. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733290 Free PMC article.

10

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Mutat Res. 2016 Feb-Mar;784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6. Mutat Res. 2016. PMID: 26845707

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

51 results

Search Page

Filters