List of works - Montserrat Milà

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 double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

scientific article published on 01 April 2008

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

scientific article published in October 1996

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

scientific article

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

Analysis of CGG variation through 642 meioses in Fragile X families.

scientific article published on 20 August 2004

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

scientific article published on October 1, 2010

Associated features in females with an FMR1 premutation

scientific article

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.

scientific article published in September 2005

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain

scientific article published on 25 February 2005

Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes

scientific article published on 01 June 1999

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

scientific article published on 10 January 2014

Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension

scientific article published on September 2012

Brain-derived neurotrophic factor modulates the severity of cognitive alterations induced by mutant huntingtin: involvement of phospholipaseCgamma activity and glutamate receptor expression

scientific article

CDKN2A mutations in melanoma families from Uruguay.

scientific article

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 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

scientific article published on 27 October 2009

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

Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome ⬇️

scientific article published on July 25, 2013

Clinical implication of FMR1 intermediate alleles in a Spanish population.

scientific article published on 31 March 2018

Common genetic background in anorexia nervosa and obsessive compulsive disorder: preliminary results from an association study

scientific article published on 19 January 2013

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

Connexin-26 mutations in sporadic and inherited sensorineural deafness

scientific journal article

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

scientific article

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

scientific article published on 18 March 2015

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Cytogenetic studies in blast crisis of Ph-positive chronic granulocytic leukemia: results and prognostic evaluation in 52 patients

scientific article published on 01 April 1986

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

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

Elastin mutation screening in a group of patients affected by vascular abnormalities

scientific article published on 01 November 2005

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

scientific article published in August 2008

Expansion of an intermediate allele of the FMR1 gene in only two generations.

scientific article published in November 2005

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

scientific article published on 02 May 2019

FMR1 Premutation: Basic Mechanisms and Clinical Involvement.

scientific article published on 23 June 2016

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening

scientific article published in June 2007

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

scientific article

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

scientific article published on 01 August 2006

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection

article

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer

scientific article published on 01 July 2005

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.

scientific article published on 25 May 2016

High apolipoprotein E4 allele frequency in FXTAS patients.

scientific article published on 14 March 2013

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

scientific article published on 28 July 2013

Incidence of fragile X in 5,000 consecutive newborn males.

scientific article published in January 2003

Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease.

scientific article

Isolation and characterisation of a CDw50 negative Jurkat T-cell line variant (PPL.1).

scientific article published on January 1993

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

scientific article published in January 2001

Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients

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 (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

article

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

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

scientific article

Motor and mental dysfunction in mother-daughter transmitted FXTAS.

scientific article published in October 2010

Mutational analysis within the 3′ region of the PKD1 gene

article

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

article

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

scientific article published on 16 July 2015

Neutropenia congénita grave: análisis de las características clínicas, estudios diagnósticos, tratamiento y seguimiento a largo plazo

scientific article published on 14 July 2011

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 fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

scientific article

Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.

scientific article published in September 1998

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

scientific article published on November 1, 2010

REM sleep behavior disorder and vocal cord paralysis in Machado‐Joseph disease ⬇️

scientific article published on October 1, 2003

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

article

Real-time PCR PCA3 assay is a useful test measured in urine to improve prostate cancer detection

scientific article published on 5 May 2014

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring

scientific article published on 01 April 2005

Recommendations of good practices for molecular diagnosis of Huntington disease

scientific article published on 27 April 2011

Reply

scientific article published on 12 December 2015

Role of the CDKN2A locus in patients with multiple primary melanomas

scientific article published on May 2005

SCA8 in the Spanish population including one homozygous patient

scientific article published on 01 November 2002

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

scientific article published in August 2006

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

scientific article

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

scientific article published in July 2014

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

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

scientific article

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

scientific article published in December 2004

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

scientific article published on 13 March 2015

Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.

scientific article published on 10 June 2016

Use of fetal nuchal translucency in the first trimester to predict single-gene disorders

article

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias

scientific article published on 10 October 2015

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

List of works by Montserrat Milà

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 double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

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.

Analysis of CGG variation through 642 meioses in Fragile X families.

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

Associated features in females with an FMR1 premutation

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain

Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes

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

Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension

Brain-derived neurotrophic factor modulates the severity of cognitive alterations induced by mutant huntingtin: involvement of phospholipaseCgamma activity and glutamate receptor expression

CDKN2A mutations in melanoma families from Uruguay.

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 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

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

Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome ⬇️

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Common genetic background in anorexia nervosa and obsessive compulsive disorder: preliminary results from an association study

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

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

Connexin-26 mutations in sporadic and inherited sensorineural deafness

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

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Cytogenetic studies in blast crisis of Ph-positive chronic granulocytic leukemia: results and prognostic evaluation in 52 patients

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.

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

Elastin mutation screening in a group of patients affected by vascular abnormalities

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

Expansion of an intermediate allele of the FMR1 gene in only two generations.

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

FMR1 Premutation: Basic Mechanisms and Clinical Involvement.

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening

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

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.

High apolipoprotein E4 allele frequency in FXTAS patients.

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Incidence of fragile X in 5,000 consecutive newborn males.

Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease.

Isolation and characterisation of a CDw50 negative Jurkat T-cell line variant (PPL.1).

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients

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 (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

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

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

Motor and mental dysfunction in mother-daughter transmitted FXTAS.

Mutational analysis within the 3′ region of the PKD1 gene

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

Neutropenia congénita grave: análisis de las características clínicas, estudios diagnósticos, tratamiento y seguimiento a largo plazo

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 fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.

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

REM sleep behavior disorder and vocal cord paralysis in Machado‐Joseph disease ⬇️

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

Real-time PCR PCA3 assay is a useful test measured in urine to improve prostate cancer detection

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring

Recommendations of good practices for molecular diagnosis of Huntington disease

Reply

Role of the CDKN2A locus in patients with multiple primary melanomas

SCA8 in the Spanish population including one homozygous patient

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.