Rosello M - Search Results

1

PIGN encephalopathy: Characterizing the epileptology.

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: rosello m. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230

2

Recombinant X chromosome in a prenatal diagnosis.

Orellana C, Badía L, Martínez F, Oltra JS, Monfort S, Roselló M, Cervera JV, García Z, Prieto F. Orellana C, et al. Among authors: rosello m. Cytogenet Genome Res. 2006;112(3-4):337-40. doi: 10.1159/000089890. Cytogenet Genome Res. 2006. PMID: 16484792

3

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.

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: 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.

5

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

6

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.

7

[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.

8

Clinical findings and molecular characterization of six subtelomeric imbalances.

Orellana C, Monfort S, Roselló M, Oltra S, Martínez F. Orellana C, et al. Among authors: rosello m. Clin Genet. 2007 May;71(5):474-9. doi: 10.1111/j.1399-0004.2007.00792.x. Clin Genet. 2007. PMID: 17489855 No abstract available.

9

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

10

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

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