Ortega-Recalde O - Search Results

1

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. Ortega-Recalde O, et al. Br J Dermatol. 2016 Dec;175(6):1372-1375. doi: 10.1111/bjd.14969. Epub 2016 Oct 23. Br J Dermatol. 2016. PMID: 27518765 No abstract available.

2

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

Ortega-Recalde O, Hore TA. Ortega-Recalde O, et al. Essays Biochem. 2019 Dec 20;63(6):649-661. doi: 10.1042/EBC20190038. Essays Biochem. 2019. PMID: 31755927 Review.

3

Paternal hypoxia exposure primes offspring for increased hypoxia resistance.

Ragsdale A, Ortega-Recalde O, Dutoit L, Besson AA, Chia JHZ, King T, Nakagawa S, Hickey A, Gemmell NJ, Hore T, Johnson SL. Ragsdale A, et al. BMC Biol. 2022 Aug 30;20(1):185. doi: 10.1186/s12915-022-01389-x. BMC Biol. 2022. PMID: 36038899 Free PMC article.

4

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. Ortega-Recalde O, et al. Nat Commun. 2019 Jul 16;10(1):3053. doi: 10.1038/s41467-019-10894-7. Nat Commun. 2019. PMID: 31311924 Free PMC article.

5

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. Ortega-Recalde O, et al. Mitochondrion. 2013 Nov;13(6):749-54. doi: 10.1016/j.mito.2013.03.010. Epub 2013 Apr 4. Mitochondrion. 2013. PMID: 23562761

6

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. Ortega-Recalde O, et al. PLoS One. 2013 Jun 3;8(6):e64692. doi: 10.1371/journal.pone.0064692. Print 2014. PLoS One. 2013. PMID: 23755135 Free PMC article.

7

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. Fonseca DJ, et al. Reprod Biomed Online. 2014 Nov;29(5):627-33. doi: 10.1016/j.rbmo.2014.07.018. Epub 2014 Aug 12. Reprod Biomed Online. 2014. PMID: 25246117

8

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. Patiño LC, et al. PLoS One. 2014 Oct 15;9(10):e109576. doi: 10.1371/journal.pone.0109576. eCollection 2014. PLoS One. 2014. PMID: 25333361 Free PMC article.

9

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. Ortega-Recalde O, et al. Clin Exp Dermatol. 2015 Oct;40(7):757-60. doi: 10.1111/ced.12627. Epub 2015 Mar 9. Clin Exp Dermatol. 2015. PMID: 25754682

10

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. Fonseca DJ, et al. Fertil Steril. 2015 Jul;104(1):154-62.e2. doi: 10.1016/j.fertnstert.2015.04.016. Epub 2015 May 16. Fertil Steril. 2015. PMID: 25989972 Free article.

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