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Items: 14

1.

DNA methylation in the vertebrate germline: balancing memory and erasure.

Ortega-Recalde O, Hore TA.

Essays Biochem. 2019 Nov 22. pii: EBC20190038. doi: 10.1042/EBC20190038. [Epub ahead of print]

PMID:
31755927
2.

The Genetics and Epigenetics of Sex Change in Fish.

Ortega-Recalde O, Goikoetxea A, Hore TA, Todd EV, Gemmell NJ.

Annu Rev Anim Biosci. 2019 Sep 16. doi: 10.1146/annurev-animal-021419-083634. [Epub ahead of print]

PMID:
31525067
3.

Zebrafish preserve global germline DNA methylation while sex-linked rDNA is amplified and demethylated during feminisation.

Ortega-Recalde O, Day RC, Gemmell NJ, Hore TA.

Nat Commun. 2019 Jul 16;10(1):3053. doi: 10.1038/s41467-019-10894-7.

4.

Stress, novel sex genes, and epigenetic reprogramming orchestrate socially controlled sex change.

Todd EV, Ortega-Recalde O, Liu H, Lamm MS, Rutherford KM, Cross H, Black MA, Kardailsky O, Marshall Graves JA, Hore TA, Godwin JR, Gemmell NJ.

Sci Adv. 2019 Jul 10;5(7):eaaw7006. doi: 10.1126/sciadv.aaw7006. eCollection 2019 Jul.

5.

Natural sex change in fish.

Gemmell NJ, Todd EV, Goikoetxea A, Ortega-Recalde O, Hore TA.

Curr Top Dev Biol. 2019;134:71-117. doi: 10.1016/bs.ctdb.2018.12.014. Epub 2019 Jan 30.

PMID:
30999982
6.

The elephant shark methylome reveals conservation of epigenetic regulation across jawed vertebrates.

Peat JR, Ortega-Recalde O, Kardailsky O, Hore TA.

F1000Res. 2017 Apr 20;6:526. doi: 10.12688/f1000research.11281.1. eCollection 2017.

7.

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

Ortega-Recalde O, Silgado D, Fetiva C, Fonseca DJ, Laissue P.

Br J Dermatol. 2016 Dec;175(6):1372-1375. doi: 10.1111/bjd.14969. Epub 2016 Oct 23. No abstract available.

PMID:
27518765
8.

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

Ortega-Recalde O, Beltrán OI, Gálvez JM, Palma-Montero A, Restrepo CM, Mateus HE, Laissue P.

Clin Genet. 2015 Oct;88(4):e1-3. doi: 10.1111/cge.12634. Epub 2015 Jul 27.

PMID:
26138117
9.

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

Fonseca DJ, Patiño LC, Suárez YC, de Jesús Rodríguez A, Mateus HE, Jiménez KM, Ortega-Recalde O, Díaz-Yamal I, Laissue P.

Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16.

PMID:
25989972
10.

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Ortega-Recalde O, Moreno MB, Vergara JI, Fonseca DJ, Rojas RF, Mosquera H, Medina CL, Restrepo CM, Laissue P.

Clin Exp Dermatol. 2015 Oct;40(7):757-60. doi: 10.1111/ced.12627. Epub 2015 Mar 9.

PMID:
25754682
11.

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.

PLoS One. 2014 Oct 15;9(10):e109576. doi: 10.1371/journal.pone.0109576. eCollection 2014.

12.

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ, Ortega-Recalde O, Esteban-Perez C, Moreno-Ortiz H, Patiño LC, Bermúdez OM, Ortiz AM, Restrepo CM, Lucena E, Laissue P.

Reprod Biomed Online. 2014 Nov;29(5):627-33. doi: 10.1016/j.rbmo.2014.07.018. Epub 2014 Aug 12.

PMID:
25246117
13.

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Ortega-Recalde O, Vergara JI, Fonseca DJ, Ríos X, Mosquera H, Bermúdez OM, Medina CL, Vargas CI, Pallares AE, Restrepo CM, Laissue P.

PLoS One. 2013 Jun 3;8(6):e64692. doi: 10.1371/journal.pone.0064692. Print 2014.

14.

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.

Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P.

Mitochondrion. 2013 Nov;13(6):749-54. doi: 10.1016/j.mito.2013.03.010. Epub 2013 Apr 4.

PMID:
23562761

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