Luis Alberto Pérez-Jurado

Luis Alberto Pérez-Jurado

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Luis Alberto Pérez-Jurado

Luis Alberto Pérez-Jurado

Publications by authors named "Luis Alberto Pérez-Jurado"

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16Publications

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Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

J Med Genet 2019 12 14;56(12):801-808. Epub 2019 Aug 14.

Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universitat Pompeu Fabra Departament de Ciences Experimentals i de la Salut, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929708PMC
December 2019

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

J Med Genet 2019 Oct 5. Epub 2019 Oct 5.

Department of Genetics, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106249DOI Listing
October 2019

bigSCale: an analytical framework for big-scale single-cell data.

Genome Res 2018 06 3;28(6):878-890. Epub 2018 May 3.

CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.

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http://dx.doi.org/10.1101/gr.230771.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991513PMC
June 2018

Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry.

J Chromatogr A 2016 Feb 14;1434:91-101. Epub 2016 Jan 14.

Neuroscience Research Program, Hospital del Mar Research Institute (IMIM), Doctor Aiguader 88, 08003 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.chroma.2016.01.023DOI Listing
February 2016

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Mol Autism 2015 15;6:21. Epub 2015 Apr 15.

Department of Experimental and Health Sciences, Universitat Pompeu Fabra, C/Doctor Aiguader 88, 422, Barcelona, 08003 Spain ; Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader 88, Barcelona, 08003 Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBER-ER), C/ Monforte de Lemos 3-5, Madrid, 28029 Spain.

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http://dx.doi.org/10.1186/s13229-015-0017-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427998PMC
May 2015

Metabolic abnormalities in Williams-Beuren syndrome.

J Med Genet 2015 Apr 6;52(4):248-55. Epub 2015 Feb 6.

Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain Hospital del Mar Research Institute (IMIM), Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102713
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http://dx.doi.org/10.1136/jmedgenet-2014-102713DOI Listing
April 2015

De novo duplication and deletions at 7q in a three-generation family.

Am J Med Genet A 2012 Jun 10;158A(6):1493-7. Epub 2012 May 10.

CHU de Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.35332DOI Listing
June 2012

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Eur J Hum Genet 2011 Aug 23;19(8):921-3. Epub 2011 Mar 23.

CIBER de Enfermedades Raras and Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2011.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172924PMC
August 2011

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.

BMC Med Genet 2011 Apr 6;12:50. Epub 2011 Apr 6.

Unidade de Xenética, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1186/1471-2350-12-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080282PMC
April 2011

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.

Genome Res 2005 Sep;15(9):1179-88

Unitat de Genètica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1101/gr.3944605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199532PMC
September 2005

Portal hypertension in Williams syndrome: report of two patients.

Am J Med Genet A 2003 May;118A(4):372-6

Genetics Unit, Department of Experimental Sciences, Universitat Pompeu Fabra, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.10205DOI Listing
May 2003