List of works - Irene Madrigal

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

scientific article published on 09 April 2012

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

scientific article published on July 25, 2012

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

scientific article published on 22 September 2016

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

scientific article published on 6 January 2016

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

scientific article published on 19 March 2013

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

scientific article published on 29 March 2012

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

scientific article published on 10 January 2014

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

scientific article published on 17 June 2016

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

scientific article published on 01 October 2010

Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result

scientific article published on 06 July 2020

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

scientific article published on 14 June 2007

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

scientific article published on 6 January 2016

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

scientific article

Deletion of the OPHN1 gene detected by aCGH.

scientific article published in March 2008

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

scientific article published on 18 June 2015

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

scientific article published on December 2009

Duplication/deletion mosaicism of the 7q(21.1 → 31.3) region

scientific article published on 01 January 2007

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

Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar

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

scientific article published in August 2008

Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements

scientific article published in October 2006

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

scientific article published on 16 June 2010

Fragile X syndrome: an overview and update of the FMR1 gene.

scientific article

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

scientific article published on 18 August 2011

High apolipoprotein E4 allele frequency in FXTAS patients.

scientific article published on 14 March 2013

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

scientific article

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.

scientific article published on 22 October 2016

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

scientific article

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

scientific article published in February 2007

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

scientific article published on 24 July 2013

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

scientific article published on 16 June 2009

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

scientific article published in February 2007

Motor and mental dysfunction in mother-daughter transmitted FXTAS.

scientific article published in October 2010

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

scientific article

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

scientific article published on 01 February 2011

Paternal transmission of a FMR1 full mutation allele.

scientific article published on 16 August 2017

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

scientific article

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern

scientific article published in September 2009

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

scientific article published on 01 December 2009

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

scientific article published on November 1, 2010

Reply to He et al.

scientific article

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

scientific article

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

scientific article published on 27 November 2015

Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.

scientific article published on 22 April 2016

Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

scientific article published on 01 December 2010

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

scientific article published on 01 October 2007

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

scientific article

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

scientific article published on July 28, 2010

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization ⬇️

scientific article published on September 23, 2010

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

scientific article published on 01 October 2010

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

scientific article published on 21 January 2010

List of works by Irene Madrigal

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

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

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

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

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

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

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations

Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome

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

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Deletion of the OPHN1 gene detected by aCGH.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Duplication/deletion mosaicism of the 7q(21.1 → 31.3) region

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

Estudio del gen BMPR2 en pacientes con hipertensión arterial pulmonar

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

Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

Fragile X syndrome: an overview and update of the FMR1 gene.

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

High apolipoprotein E4 allele frequency in FXTAS patients.

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

Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

Motor and mental dysfunction in mother-daughter transmitted FXTAS.

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Paternal transmission of a FMR1 full mutation allele.

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern

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

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

Reply to He et al.

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

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

Social anxiety and autism spectrum traits among adult FMR1 premutation carriers.

Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia

Subtelomeric MLPA: is it really useful in prenatal diagnosis?

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

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

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

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization ⬇️

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

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