Oltra S - Search Results

1

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

Martínez F, León AM, Monfort S, Oltra S, Roselló M, Orellana C. Martínez F, et al. Among authors: oltra s. Genet Test. 2006 Fall;10(3):174-7. doi: 10.1089/gte.2006.10.174. Genet Test. 2006. PMID: 17020468

2

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F. Ferrer-Bolufer I, et al. Among authors: oltra s. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53. doi: 10.1007/s10545-009-9014-9. Epub 2009 Dec 23. J Inherit Metab Dis. 2009. PMID: 20033293 Review.

3

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.

4

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.

5

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.

6

[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.

7

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors.

Grau E, Oltra S, Martínez F, Orellana C, Cañete A, Fernández JM, Hernández-Martí M, Castel V. Grau E, et al. Among authors: oltra s. J Cancer Res Clin Oncol. 2009 Apr;135(4):523-31. doi: 10.1007/s00432-008-0484-1. Epub 2008 Sep 27. J Cancer Res Clin Oncol. 2009. PMID: 18820946

8

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Camprubí C, et al. Among authors: oltra s. Am J Med Genet A. 2009 Mar;149A(3):343-8. doi: 10.1002/ajmg.a.32659. Am J Med Genet A. 2009. PMID: 19213023

9

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

Roselló M, Ferrer-Bolufer I, Monfort S, Oltra S, Quiroga R, Martínez F, Gonzalvo M, Benac A, Perales A, Orellana C. Roselló M, et al. Among authors: oltra s. Eur J Med Genet. 2010 Mar-Apr;53(2):76-9. doi: 10.1016/j.ejmg.2009.12.003. Epub 2009 Dec 29. Eur J Med Genet. 2010. PMID: 20004752

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: 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

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