Gabau E - Search Results

1

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: gabau e. 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.

2

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: gabau e. 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

3

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: gabau e. 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

4

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: gabau e. Behav Brain Funct. 2008 Feb 19;4:10. doi: 10.1186/1744-9081-4-10. Behav Brain Funct. 2008. PMID: 18284679 Free PMC article.

5

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: gabau e. 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

6

[Prader Willi syndrome patients: study of 77 patients].

Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Poyatos D, et al. Among authors: gabau e. Med Clin (Barc). 2009 Nov 7;133(17):649-56. doi: 10.1016/j.medcli.2009.04.051. Epub 2009 Sep 13. Med Clin (Barc). 2009. PMID: 19748638 Spanish.

7

Prader-Willi and Angelman syndromes: genetic counseling.

Camprubí C, Coll MD, Gabau E, Guitart M. Camprubí C, et al. Among authors: gabau e. Eur J Hum Genet. 2010 Feb;18(2):154-5; author reply 155-6. doi: 10.1038/ejhg.2009.170. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809481 Free PMC article. No abstract available.

8

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: gabau e. BMC Med Genet. 2009 Dec 23;10:144. doi: 10.1186/1471-2350-10-144. BMC Med Genet. 2009. PMID: 20030804 Free PMC article.

9

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: gabau e. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.

10

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: gabau e. 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.

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