Rodriguez-Revenga L - Search Results

1

Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice.

Agustí I, Méndez M, Borrás A, Goday A, Guimerà M, Peralta S, Ribera L, Rodriguez-Revenga L, Manau D. Agustí I, et al. Among authors: rodriguez revenga l. Genes (Basel). 2024 Aug 1;15(8):1008. doi: 10.3390/genes15081008. Genes (Basel). 2024. PMID: 39202368 Free PMC article.

2

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Rodriguez-Revenga L, Gómez-Anson B, Muñoz E, Jiménez D, Santos M, Tintoré M, Martín G, Brieva L, Milà M. Rodriguez-Revenga L, et al. Mol Neurobiol. 2007 Jun;35(3):324-8. doi: 10.1007/s12035-007-0020-3. Mol Neurobiol. 2007. PMID: 17917121

3

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M. Rodriguez-Revenga L, et al. Eur J Hum Genet. 2009 Oct;17(10):1359-62. doi: 10.1038/ejhg.2009.51. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367323 Free PMC article.

4

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.

Rodriguez-Revenga L, Madrigal I, Badenas C, Xunclà M, Jiménez L, Milà M. Rodriguez-Revenga L, et al. Menopause. 2009 Sep-Oct;16(5):944-9. doi: 10.1097/gme.0b013e3181a06a37. Menopause. 2009. PMID: 19373114

5

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Madrigal I, Xunclà M, Tejada MI, Martínez F, Fernández-Carvajal I, Pérez-Jurado LA, Rodriguez-Revenga L, Milà M. Madrigal I, et al. Eur J Hum Genet. 2011 Aug;19(8):921-3. doi: 10.1038/ejhg.2011.41. Epub 2011 Mar 23. Eur J Hum Genet. 2011. PMID: 21427756 Free PMC article.

6

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

Madrigal I, Rodríguez-Revenga L, Xunclà M, Milà M. Madrigal I, et al. Gene. 2012 Oct 15;508(1):92-5. doi: 10.1016/j.gene.2012.07.023. Epub 2012 Jul 25. Gene. 2012. PMID: 22842191

7

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Rodriguez-Revenga L, Madrigal I, Blanch-Rubió J, Elurbe DM, Docampo E, Collado A, Vidal J, Carbonell J, Estivill X, Mila M. Rodriguez-Revenga L, et al. Gene. 2013 Jan 10;512(2):305-8. doi: 10.1016/j.gene.2012.10.016. Epub 2012 Oct 27. Gene. 2013. PMID: 23111161 Clinical Trial.

8

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.

9

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.

10

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

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