Mayo S - Search Results

1

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F. Orellana C, et al. Among authors: mayo s. Am J Med Genet A. 2015 Jul;167(7):1614-20. doi: 10.1002/ajmg.a.37046. Epub 2015 Apr 9. Am J Med Genet A. 2015. PMID: 25858326 Review.

2

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

Martínez F, Monfort S, Roselló M, Oltra S, Blesa D, Quiroga R, Mayo S, Orellana C. Martínez F, et al. Among authors: mayo s. BMC Med Genomics. 2010 Nov 23;3:54. doi: 10.1186/1755-8794-3-54. BMC Med Genomics. 2010. PMID: 21092253 Free PMC article.

3

Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C. Quiroga R, et al. Among authors: mayo s. Cytogenet Genome Res. 2011;133(1):78-83. doi: 10.1159/000322719. Epub 2011 Jan 13. Cytogenet Genome Res. 2011. PMID: 21228546

4

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F. Mayo S, et al. Cytogenet Genome Res. 2011;135(2):93-101. doi: 10.1159/000330917. Epub 2011 Sep 16. Cytogenet Genome Res. 2011. PMID: 21934280

5

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.

Mayo S, Garin I, Monfort S, Roselló M, Orellana C, Oltra S, Zazo C, de Naclares GP, Martínez F. Mayo S, et al. J Hum Genet. 2012 Feb;57(2):153-6. doi: 10.1038/jhg.2011.145. Epub 2012 Jan 5. J Hum Genet. 2012. PMID: 22217647 No abstract available.

6

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Casaña P, Mayo S, Monfort S, Orellana C, Haya S, Cid AR, Roselló M, Oltra S, Martínez F. Casaña P, et al. Among authors: mayo s. Br J Haematol. 2012 Jul;158(1):138-40. doi: 10.1111/j.1365-2141.2012.09092.x. Epub 2012 Mar 19. Br J Haematol. 2012. PMID: 22429151 Free article. No abstract available.

7

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P. Froyen G, et al. Among authors: mayo s. Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840365 Free PMC article.

8

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

López-Carrasco A, Oltra S, Monfort S, Mayo S, Roselló M, Martínez F, Orellana C. López-Carrasco A, et al. Among authors: mayo s. Mol Hum Reprod. 2013 Feb;19(2):102-8. doi: 10.1093/molehr/gas047. Epub 2012 Oct 25. Mol Hum Reprod. 2013. PMID: 23100464

9

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

López-Carrasco A, Monfort S, Roselló M, Oltra S, Mayo S, Martínez F, Orellana C. López-Carrasco A, et al. Among authors: mayo s. Med Clin (Barc). 2014 Jun 16;142(12):531-7. doi: 10.1016/j.medcli.2013.04.034. Epub 2013 Jun 20. Med Clin (Barc). 2014. PMID: 23790573 Spanish.

10

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C. Martínez F, et al. Among authors: mayo s. Am J Med Genet A. 2014 Apr;164A(4):918-23. doi: 10.1002/ajmg.a.36371. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458433

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