Miriam Guitart

Miriam Guitart

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Miriam Guitart

Miriam Guitart

Publications by authors named "Miriam Guitart"

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Discoidin domain receptor 1 gene variants are associated with decreased white matter fractional anisotropy and decreased processing speed in schizophrenia.

J Psychiatr Res 2019 03 24;110:74-82. Epub 2018 Dec 24.

Hospital Universitari Institut Pere Mata, IISPV, Universitat Rovira i Virgili, Reus, Spain; Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223956183103
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http://dx.doi.org/10.1016/j.jpsychires.2018.12.021DOI Listing
March 2019

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Mol Genet Genomic Med 2019 01 11;7(1):e00511. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

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http://dx.doi.org/10.1002/mgg3.511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382443PMC
January 2019

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

An Pediatr (Barc) 2018 Jul 14;89(1):62-63. Epub 2017 Oct 14.

Laboratorio de Genética, UDIAT-Centre Diagnòstic Hospital de Sabadell, Corporació Sanitària Parc Taulí, Fundació Parc Taulí Institut Universitari UAB, Sabadell, España.

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http://dx.doi.org/10.1016/j.anpedi.2017.08.003DOI Listing
July 2018

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

Behav Genet 2018 07 7;48(4):323-336. Epub 2018 Jun 7.

Genetics lab, UDIAT-centre diagnostic. Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí I3PT. Universitat Autònoma de Barcelona, C/Parc Tauli,1, 08208, Sabadell, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10519-018-9902-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028865PMC
July 2018

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

BMC Med Genet 2017 11 21;18(1):137. Epub 2017 Nov 21.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Parc del Taulí 1, 08208, Barcelona, Sabadell, Spain.

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http://dx.doi.org/10.1186/s12881-017-0500-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696761PMC
November 2017

Paternal transmission of a FMR1 full mutation allele.

Am J Med Genet A 2017 Oct 16;173(10):2795-2797. Epub 2017 Aug 16.

Biochemistry and Molecular Genetics Department, Hospital Clinic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.38384DOI Listing
October 2017

RNA editing independently occurs at three mir-376a-1 sites and may compromise the stability of the microRNA hairpin.

Gene 2017 Sep 12;628:109-116. Epub 2017 Jul 12.

Institute of Evolutionary Biology (IBE) (Universitat Pompeu Fabra-CSIC), Barcelona 08003, Spain; School of Medicine, University of Magallanes, Punta Arenas, Chile. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.032DOI Listing
September 2017

Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors.

Nat Commun 2017 09 7;8(1):467. Epub 2017 Sep 7.

Imprinting and Cancer group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, 08907, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41467-017-00639-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589900PMC
September 2017

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

PLoS One 2016;11(9):e0163468. Epub 2016 Sep 29.

Department of Endocrinology and Nutrition, Sabadell University Hospital, Corporació Sanitària Parc Taulí, Sabadell, Spain, Autonomous University of Barcelona, Bellaterra, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0163468PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042477PMC
September 2016

A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability.

Cytogenet Genome Res 2015 31;146(2):109-14. Epub 2015 Jul 31.

Unitat de Biologia Celx2219;lular i Genx00E8;tica Mx00E8;dica, Departament de Biologia Celx2219;lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autx00F2;noma de Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1159/000437127DOI Listing
January 2016

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Biomed Res Int 2014 26;2014:542541. Epub 2014 Jun 26.

Laboratorio de Genética, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí Institut Universitari (UAB), Parc Taulí s/n, Sabadell, 08208 Barcelona, Spain.

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http://dx.doi.org/10.1155/2014/542541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098986PMC
May 2015

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

Mol Genet Genomic Med 2014 Nov 18;2(6):512-21. Epub 2014 Aug 18.

Laboratori de Genètica, UDIAT-Centre Diagnòstic, Corporació Sanitària Parc Taulí, Institut Universitari Parc Tauli-UAB Sabadell, Spain.

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http://dx.doi.org/10.1002/mgg3.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303221PMC
November 2014

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.

Hum Mutat 2013 Apr 19;34(4):595-602. Epub 2013 Feb 19.

Imprinting and Cancer Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.22276DOI Listing
April 2013

[The genetic bases of neurodevelopmental disorders].

Rev Neurol 2013 Feb;56 Suppl 1:S23-34

Centre Medic Psyncron, Sabadell, Barcelona, Spain.

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February 2013

Prader-Willi and Angelman syndromes: genetic counseling.

Eur J Hum Genet 2010 Feb 7;18(2):154-5; author reply 155-6. Epub 2009 Oct 7.

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http://dx.doi.org/10.1038/ejhg.2009.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987187PMC
February 2010

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

BMC Med Genet 2009 Dec 23;10:144. Epub 2009 Dec 23.

Genes and Disease Program, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2805625PMC
December 2009

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

Med Clin (Barc) 2009 Nov 13;133(17):649-56. Epub 2009 Sep 13.

Unitat de Biologia Cellular, Facultat de Biociències, Universitat Autònoma de Barcelona, Barcelona, España.

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http://dx.doi.org/10.1016/j.medcli.2009.04.051DOI Listing
November 2009

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.

Behav Brain Funct 2008 Feb 19;4:10. Epub 2008 Feb 19.

Genes and Disease Program, Barcelona Genotyping Node, CeGen-CRG, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1186/1744-9081-4-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278148PMC
February 2008

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Eur J Hum Genet 2007 Jun 28;15(6):711-3. Epub 2007 Mar 28.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201824DOI Listing
June 2007

Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.

Eur J Med Genet 2007 Jan-Feb;50(1):11-20. Epub 2006 Oct 10.

Unitat de Biologia Cel-lular, Facultat de Ciències, Universitat Autònoma de Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.001DOI Listing
March 2007

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

Am J Med Genet A 2006 Nov;140(22):2426-32

Laboratori de Genètica, UDIAT-Centre Diagnòstic, Servei de Pediatria, Fundació Parc Taulí Institut Universitari UAB, Corporació Sanitària Parc Taulí, Sabadell, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31499DOI Listing
November 2006

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

J Lab Clin Med 2006 Jun;147(6):295-300

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.lab.2006.01.006DOI Listing
June 2006

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.

Eur J Hum Genet 2002 Jan;10(1):26-35

Centre de Genètica Mèdica i Molecular - IRO, Hospital Duran i Reynals, Gran Vía km 2.7, 08907 L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.ejhg.5200760DOI Listing
January 2002