Gabau E - Search Results

1

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. Among authors: gabau e. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 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

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.

10

Novel Mutations Causing C5 Deficiency in Three North-African Families.

Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. Among authors: gabau e. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170

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