Oltra 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: oltra 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

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

Martínez F, Martínez-Garay I, Oltra S, Moltó MD, Orellana C, Monfort S, Prieto F, Tejada I. Martínez F, et al. Among authors: oltra s. Am J Med Genet A. 2004 Dec 1;131(2):174-8. doi: 10.1002/ajmg.a.30352. Am J Med Genet A. 2004. PMID: 15526294

3

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

Monfort S, Orellana C, Oltra S, Roselló M, Guitart M, Martínez F. Monfort S, et al. Among authors: oltra s. J Lab Clin Med. 2006 Jun;147(6):295-300. doi: 10.1016/j.lab.2006.01.006. J Lab Clin Med. 2006. PMID: 16750667 Clinical Trial.

4

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.

Monfort S, Blesa D, Roselló M, Orellana C, Oltra S, Cigudosa JC, Martínez F. Monfort S, et al. Among authors: oltra s. Am J Med Genet A. 2007 Feb 15;143(4):382-4. doi: 10.1002/ajmg.a.31608. Am J Med Genet A. 2007. PMID: 17230491 No abstract available.

5

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Roselló M, Monfort S, Orellana C, Oltra S, Martínez Garay I, Martínez F. Roselló M, et al. Among authors: oltra s. Med Clin (Barc). 2007 Mar 24;128(11):419-21. doi: 10.1157/13100343. Med Clin (Barc). 2007. PMID: 17394858 Spanish.

6

[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: oltra 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.

7

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: oltra 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

8

Phenotype profiling of patients with intellectual disability and copy number variations.

Roselló M, Martínez F, Monfort S, Mayo S, Oltra S, Orellana C. Roselló M, et al. Among authors: oltra s. Eur J Paediatr Neurol. 2014 Sep;18(5):558-66. doi: 10.1016/j.ejpn.2014.04.010. Epub 2014 Apr 18. Eur J Paediatr Neurol. 2014. PMID: 24815074

9

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F. Preiksaitiene E, et al. Among authors: oltra s. Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900314

10

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.

Mayo S, Roselló M, Monfort S, Oltra S, Orellana C, Martínez F. Mayo S, et al. Among authors: oltra s. Genet Med. 2015 Aug;17(8):683-4. doi: 10.1038/gim.2015.86. Genet Med. 2015. PMID: 26240977 Free article. No abstract available.

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