Ruiz A - Search Results

1

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Schänzer A, et al. Among authors: ruiz a. Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. Epub 2021 Jun 5. Ann Neurol. 2021. PMID: 33999436 Free PMC article.

2

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: ruiz a. 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.

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: ruiz a. 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: ruiz a. 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

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.

Parente DJ, Morris SM, McKinstry RC, Brandt T, Gabau E, Ruiz A, Shinawi M. Parente DJ, et al. Among authors: ruiz a. Clin Genet. 2020 Mar;97(3):437-446. doi: 10.1111/cge.13675. Epub 2019 Dec 11. Clin Genet. 2020. PMID: 31721175

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: ruiz a. 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: ruiz a. 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: ruiz a. Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708. Genes (Basel). 2023. PMID: 36980980 Free PMC article.

9

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Manso-Bazús C, Spataro N, Gabau E, Beltrán-Salazar VP, Trujillo-Quintero JP, Capdevila N, Brunet-Vega A, Baena N, Jeyaprakash AA, Martinez-Glez V, Ruiz A. Manso-Bazús C, et al. Among authors: ruiz a. Front Genet. 2024 Jan 31;15:1291063. doi: 10.3389/fgene.2024.1291063. eCollection 2024. Front Genet. 2024. PMID: 38356699 Free PMC article.

10

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: ruiz a. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.

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