Guitart M - Search Results

1

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM. van Minkelen R, et al. Among authors: guitart m. BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. BMC Med Genet. 2015. PMID: 26285866 Free PMC article.

2

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M. Aguilera C, et al. Among authors: guitart m. BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.

3

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP. Mitchell J, et al. Among authors: guitart m. Am J Med Genet. 1996 Oct 16;65(2):133-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8911605

4

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

5

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M. Brunet A, et al. Among authors: guitart m. BMC Med Genet. 2009 Dec 23;10:144. doi: 10.1186/1471-2350-10-144. BMC Med Genet. 2009. PMID: 20030804 Free PMC article.

6

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

7

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.

Viñas-Jornet M, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Baena N, San J, Ruiz A, Coll MD, Novell R, Guitart M. Viñas-Jornet M, et al. Among authors: guitart m. Mol Genet Genomic Med. 2014 Nov;2(6):512-21. doi: 10.1002/mgg3.105. Epub 2014 Aug 18. Mol Genet Genomic Med. 2014. PMID: 25614873 Free PMC article.

8

[Phenotype variability in thirteen 16p11.2 deletion patients].

Rodà D, Gabau E, Baena N, Guitart M. Rodà D, et al. Among authors: guitart m. An Pediatr (Engl Ed). 2018 Jul;89(1):62-63. doi: 10.1016/j.anpedi.2017.08.003. Epub 2017 Oct 14. An Pediatr (Engl Ed). 2018. PMID: 29037952 Free article. Spanish. No abstract available.

9

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M. Viñas-Jornet M, et al. Among authors: guitart m. Behav Genet. 2018 Jul;48(4):323-336. doi: 10.1007/s10519-018-9902-6. Epub 2018 Jun 7. Behav Genet. 2018. PMID: 29882083 Free PMC article.

10

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.

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