Guitart M - Search Results

1

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A. Aguilera C, et al. Among authors: guitart m. Mol Genet Genomic Med. 2019 Jan;7(1):e00511. doi: 10.1002/mgg3.511. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548424 Free PMC article.

2

Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.

Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F. Blanco J, et al. Among authors: guitart m. Am J Hum Genet. 1998 Oct;63(4):1067-72. doi: 10.1086/302058. Am J Hum Genet. 1998. PMID: 9758616 Free PMC article.

3

Origin of trisomy 21 in Down syndrome cases from a Spanish population registry.

Gómez D, Solsona E, Guitart M, Baena N, Gabau E, Egozcue J, Caballín MR. Gómez D, et al. Among authors: guitart m. Ann Genet. 2000 Jan-Mar;43(1):23-8. doi: 10.1016/s0003-3995(00)00017-4. Ann Genet. 2000. PMID: 10818217

4

Fetal and placenta chromosome constitution in 237 pregnancy losses.

Baena N, Guitart M, Ferreres JC, Gabau E, Corona M, Mellado F, Egozcue J, Caballín MR. Baena N, et al. Among authors: guitart m. Ann Genet. 2001 Apr-Jun;44(2):83-8. doi: 10.1016/s0003-3995(01)01042-5. Ann Genet. 2001. PMID: 11522246

5

Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15.

Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll MD. Poyatos D, et al. Among authors: guitart m. J Med Genet. 2002 Feb;39(2):E4. doi: 10.1136/jmg.39.2.e4. J Med Genet. 2002. PMID: 11836373 Free PMC article. No abstract available.

6

Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.

Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballín MR, Guitart M. Baena N, et al. Among authors: guitart m. Am J Med Genet A. 2004 Aug 15;129A(1):16-20. doi: 10.1002/ajmg.a.30092. Am J Med Genet A. 2004. PMID: 15266609

7

Characterization of six marker chromosomes by comparative genomic hybridization.

Belloso JM, Caballín MR, Gabau E, Baena N, Vidal R, Villatoro S, Guitart M. Belloso JM, et al. Among authors: guitart m. Am J Med Genet A. 2005 Jul 15;136(2):169-74. doi: 10.1002/ajmg.a.30788. Am J Med Genet A. 2005. PMID: 15948187

8

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M. Brunet A, et al. Among authors: guitart m. Am J Med Genet A. 2006 Nov 15;140(22):2426-32. doi: 10.1002/ajmg.a.31499. Am J Med Genet A. 2006. PMID: 17041934

9

Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M. Camprubí C, et al. Among authors: guitart m. Eur J Med Genet. 2007 Jan-Feb;50(1):11-20. doi: 10.1016/j.ejmg.2006.10.001. Epub 2006 Oct 10. Eur J Med Genet. 2007. PMID: 17095305

10

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.

Brunet A, Armengol L, Pelaez T, Guillamat R, Vallès V, Gabau E, Estivill X, Guitart M. Brunet A, et al. Among authors: guitart m. Behav Brain Funct. 2008 Feb 19;4:10. doi: 10.1186/1744-9081-4-10. Behav Brain Funct. 2008. PMID: 18284679 Free PMC article.

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