Guitart M - Search Results

1

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M. Baena N, et al. Among authors: guitart m. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.

2

[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.

3

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.

4

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.

5

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

6

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Aguilera C, Hümmer S, Masanas M, Gabau E, Guitart M, Jeyaprakash AA, Segura MF, Santamaria A, Ruiz A. Aguilera C, et al. Among authors: guitart m. Front Neurosci. 2021 May 26;15:618098. doi: 10.3389/fnins.2021.618098. eCollection 2021. Front Neurosci. 2021. PMID: 34121983 Free PMC article.

7

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: guitart m. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.

8

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N, Trujillo-Quintero JP, Manso C, Gabau E, Capdevila N, Martinez-Glez V, Berenguer-Llergo A, Reyes S, Brunet A, Baena N, Guitart M, Ruiz A. Spataro N, et al. Among authors: guitart m. Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708. Genes (Basel). 2023. PMID: 36980980 Free PMC article.

9

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.

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: 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.

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