Ivon Cuscó

Ivon Cuscó

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Ivon Cuscó

Ivon Cuscó

Publications by authors named "Ivon Cuscó"

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Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".

Ann Neurol 2019 Nov 3;86(5):803. Epub 2019 Oct 3.

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25597DOI Listing
November 2019

Severe brain involvement in 5q spinal muscular atrophy type 0.

Ann Neurol 2019 Sep 24;86(3):458-462. Epub 2019 Jul 24.

Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.25549DOI Listing
September 2019

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

J Med Genet 2019 Aug 14. 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
August 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

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Neuromuscul Disord 2018 03 11;28(3):208-215. Epub 2018 Jan 11.

Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), 08035 Barcelona, Spain; CB06/07/0011 group, CIBERER, Barcelona, Spain; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, 08035 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.01.003DOI Listing
March 2018

Provision of Genetic Services for Autism and its Impact on Spanish Families.

J Autism Dev Disord 2017 Oct;47(10):2947-2956

Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10803-017-3203-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602032PMC
October 2017

DNA methylation abnormalities in congenital heart disease.

Epigenetics 2015 ;10(2):167-77

a Department of Experimental and Health Sciences ; Universitat Pompeu Fabra ; Barcelona , Spain.

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http://dx.doi.org/10.1080/15592294.2014.998536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622722PMC
October 2015

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

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.

EMBO Mol Med 2014 03 30;6(3):299-306. Epub 2014 Jan 30.

Departments of Endocrinology and Pediatrics, Hospital Infantil Universitario Niño Jesús Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/emmm.201303573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958305PMC
March 2014

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.

Am J Hum Genet 2014 Mar 20;94(3):361-72. Epub 2014 Feb 20.

Hospital del Mar Research Institute (IMIM), Barcelona 08003, Spain; Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona 08003, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951940PMC
March 2014

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

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

PLoS One 2009 2;4(4):e5112. Epub 2009 Apr 2.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0005112PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660437PMC
July 2009

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Genome Res 2008 May 21;18(5):683-94. Epub 2008 Feb 21.

Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona 08003, Spain.

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http://dx.doi.org/10.1101/gr.073197.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2336808PMC
May 2008

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord.

Neuromuscul Disord 2005 Mar 28;15(3):253-8. Epub 2005 Jan 28.

Servei de Genètica and Institut de Recerca, Hospital de Sant Pau, Av. Padre Claret 167, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2004.11.006DOI Listing
March 2005

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

J Neuropathol Exp Neurol 2005 Mar;64(3):215-23

Department of Genetics and Research Institute, Hospital Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1093/jnen/64.3.215DOI Listing
March 2005

Should gamete donors be tested for spinal muscular atrophy?

Fertil Steril 2002 Feb;77(2):409-11

Genetics and Research Institute, Hospital de Sant Pau, Padre Claret 167, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1016/s0015-0282(01)02994-6DOI Listing
February 2002