Irene Madrigal

Irene Madrigal

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Irene Madrigal

Irene Madrigal

Publications by authors named "Irene Madrigal"

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46Publications

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Genetic linkage analysis of a large family identifies as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.

J Med Genet 2019 Jul 20;56(7):481-490. Epub 2019 Mar 20.

Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2018-105669DOI Listing
July 2019

Fragile X-associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations.

Genes Brain Behav 2019 06 24;18(5):e12565. Epub 2019 May 24.

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

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http://dx.doi.org/10.1111/gbb.12565DOI Listing
June 2019

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

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.

Cytogenet Genome Res 2016 22;149(4):258-261. Epub 2016 Sep 22.

Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000448827DOI Listing
January 2017

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.

Neurodegener Dis 2016 27;16(3-4):290-2. Epub 2015 Nov 27.

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

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http://dx.doi.org/10.1159/000441566DOI Listing
December 2016

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Mutat Res 2016 Feb-Mar;784-785:46-52. Epub 2016 Jan 6.

Biochemistry and Molecular Genetics Department, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain; CIBER of Rare Diseases (CIBERER), Villarroel 170, 08036 Barcelona, Spain; IDIBAPS, Rosselló 149, 08036 Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2015.12.006DOI Listing
June 2016

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

J Clin Pathol 2014 Dec 30;67(12):1099-103. Epub 2014 Sep 30.

Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1136/jclinpath-2014-202537DOI Listing
December 2014

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes.

Neurobiol Dis 2014 May 10;65:43-54. Epub 2014 Jan 10.

Genomics and Disease Group, Bioinformatics and Genomics Programme, Centre for Genomic Regulation (CRG), Barcelona 08003, Catalonia, Spain; Universitat Pompeu Fabra (UPF), Barcelona 08003, Catalonia, Spain; Hospital del Mar Medical Research Institute (IMIM), Barcelona 08003, Catalonia, Spain; CIBER de Epidemiología y Salud Pública (CIBERESP), CRG, Barcelona 08003, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.12.020DOI Listing
May 2014

High apolipoprotein E4 allele frequency in FXTAS patients.

Genet Med 2013 Aug 14;15(8):639-42. Epub 2013 Mar 14.

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

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http://dx.doi.org/10.1038/gim.2013.12DOI Listing
August 2013

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Gene 2013 Jan 27;512(2):305-8. Epub 2012 Oct 27.

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

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http://dx.doi.org/10.1016/j.gene.2012.10.016DOI Listing
January 2013

15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.

Gene 2012 Oct 25;508(1):92-5. Epub 2012 Jul 25.

CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.gene.2012.07.023DOI Listing
October 2012

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

J Clin Pathol 2012 Sep 29;65(9):844-6. Epub 2012 Mar 29.

Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1136/jclinpath-2011-200626DOI Listing
September 2012

12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.

Am J Med Genet A 2012 May 9;158A(5):1071-6. Epub 2012 Apr 9.

CIBER de Enfermedades Raras, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.35287DOI Listing
May 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

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Genet Med 2011 Feb;13(2):155-60

Gastroenterology Department, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, CIBEREHD, IDIBAPS, University of Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1097/GIM.0b013e318202e10bDOI Listing
February 2011

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Eur J Hum Genet 2010 Dec 28;18(12):1353-5. Epub 2010 Jul 28.

Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2010.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002859PMC
December 2010

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

Prenat Diagn 2010 Dec;30(12-13):1165-9

Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/pd.2635DOI Listing
December 2010

Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.

Transl Res 2010 Nov;156(5):309-14

Biochemistry and Molecular Genetics Service, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.trsl.2010.08.001DOI Listing
November 2010

[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].

Rev Neurol 2010 Oct;51(8):465-70

CIBER de Enfermedades Raras, Hospital Clínic Hospital Clinic de Barcelona, 08036 Barcelona, España.

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October 2010

Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR.

Genomics 2010 Apr 11;95(4):203-9. Epub 2010 Feb 11.

Department of Animal Biology, Plant Biology and Ecology, Faculty of Biosciences, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ygeno.2010.02.003DOI Listing
April 2010

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

Arch Bronconeumol 2010 Mar 21;46(3):129-34. Epub 2010 Jan 21.

Servicio de Neumología, Hospital Clínic, Barcelona, España.

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http://dx.doi.org/10.1016/j.arbres.2009.11.005DOI Listing
March 2010

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.

Am J Med Genet A 2009 Dec;149A(12):2820-3

Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.33105DOI Listing
December 2009

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].

Med Clin (Barc) 2009 Jul 26;133(7):252-4. Epub 2009 May 26.

Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España.

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http://dx.doi.org/10.1016/j.medcli.2008.12.032DOI Listing
July 2009

Evidence of depressive symptoms in fragile-X syndrome premutated females.

Psychiatr Genet 2008 Aug;18(4):153-5

Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1097/YPG.0b013e3282f97e0bDOI Listing
August 2008

Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.

Am J Med Genet A 2008 May;146A(10):1335-40

Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.32284DOI Listing
May 2008

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

Genet Test 2008 Mar;12(1):135-8

Biochemistry and Molecular Genetics Department, Hospital Clínic, and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1089/gte.2007.0074DOI Listing
March 2008

Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation.

Am J Med Genet A 2007 Oct;143A(20):2423-9

Fundació Clínic per a la Recerca Biomèdica, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31777DOI Listing
October 2007

Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.

Blood Cells Mol Dis 2007 May-Jun;38(3):242-6. Epub 2007 Jan 31.

Biochemistry and Molecular Genetics Unit, Dermatology Unit, Hospital Clinic, IDIBAPS, University of Barcelona, Villarroel 170, Barcelona 08036, Spain.

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http://dx.doi.org/10.1016/j.bcmd.2006.12.001DOI Listing
June 2007

Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region.

Am J Med Genet A 2007 Jan;143A(2):179-83

Servei de Genètica, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31570DOI Listing
January 2007

A novel mutation in JARID1C gene associated with mental retardation.

Eur J Hum Genet 2006 May;14(5):583-6

Genetics Service, Centre de Diagnòstic Biomèdic, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.ejhg.5201608DOI Listing
May 2006

46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.

Prenat Diagn 2005 Jun;25(6):448-50

Servei de Genètica, Centre de Diagnòstic Biomèdic, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1002/pd.1150DOI Listing
June 2005

Coamplified and overexpressed genes at ERBB2 locus in gastric cancer.

Int J Cancer 2004 Apr;109(4):548-53

Departments of Pathology and Medical Genetics, Haartman Institute, University of Helsinki and Helsinki University Central Hospital Laboratory Diagnostics, Helsinki, Finland.

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http://dx.doi.org/10.1002/ijc.20001DOI Listing
April 2004