Rosello M - Search Results

1

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Fieremans N, et al. Among authors: rosello m. Hum Mutat. 2016 Aug;37(8):804-11. doi: 10.1002/humu.23012. Epub 2016 May 25. Hum Mutat. 2016. PMID: 27159028 Free PMC article.

2

A subtelomeric translocation apparently implied in multiple abortions.

Monfort S, Martínez F, Roselló M, Badia L, Prieto F, Orellana C. Monfort S, et al. Among authors: rosello m. J Assist Reprod Genet. 2006 Feb;23(2):97-101. doi: 10.1007/s10815-006-9033-5. Epub 2006 Apr 5. J Assist Reprod Genet. 2006. PMID: 16596466 Free PMC article.

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: rosello m. 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

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: rosello m. Genet Test. 2006 Fall;10(3):174-7. doi: 10.1089/gte.2006.10.174. Genet Test. 2006. PMID: 17020468

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: rosello m. 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. Med Clin (Barc). 2007 Mar 24;128(11):419-21. doi: 10.1157/13100343. Med Clin (Barc). 2007. PMID: 17394858 Spanish.

7

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F. Monfort S, et al. Among authors: rosello m. J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15. J Med Genet. 2008. PMID: 18413373

8

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F. Roselló M, et al. Cytogenet Genome Res. 2009;125(2):103-8. doi: 10.1159/000227833. Epub 2009 Aug 31. Cytogenet Genome Res. 2009. PMID: 19729912

9

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: rosello m. 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.

10

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

Orellana C, Roselló M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martínez F. Orellana C, et al. Among authors: rosello m. Cytogenet Genome Res. 2009;127(1):5-8. doi: 10.1159/000279261. Epub 2010 Jan 27. Cytogenet Genome Res. 2009. PMID: 20110648

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

140 results

Search Page

Filters