Oltra S - Search Results

1

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. Among authors: oltra s. 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.

2

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.

3

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.

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

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Mayo S, Monfort S, Roselló M, Oltra S, Orellana C, Martínez F. Mayo S, et al. Among authors: oltra s. Biomed Res Int. 2015;2015:341986. doi: 10.1155/2015/341986. Epub 2015 May 27. Biomed Res Int. 2015. PMID: 26106604 Free PMC article.

6

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: oltra s. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.

7

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Martínez F, Caro-Llopis A, Roselló M, Oltra S, Mayo S, Monfort S, Orellana C. Martínez F, et al. Among authors: oltra s. J Med Genet. 2017 Feb;54(2):87-92. doi: 10.1136/jmedgenet-2016-103964. Epub 2016 Sep 12. J Med Genet. 2017. PMID: 27620904

8

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

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

Screening for microdeletions of the X-chromosome in non-specific mental retardation.

Martínez F, Oltra S, Berges M, Orellana C, Prieto F, Martínez-Garay I, Moltó MD. Martínez F, et al. Among authors: oltra s. Am J Med Genet A. 2004 Jan 1;124A(1):99-101. doi: 10.1002/ajmg.a.20398. Am J Med Genet A. 2004. PMID: 14679596 No abstract available.

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