Lista de obras - Nicole de Leeuw - Dominio Público Uruguay

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

artículo científico publicado en 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

artículo científico publicado en 2014

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

artículo científico publicado en 2011

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

artículo científico publicado en 2006

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

artículo científico publicado en 2007

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

scientific article published in 2023

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

artículo científico publicado en 2013

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

artículo científico

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

artículo científico publicado en 2014

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

artículo científico publicado en 2011

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

artículo científico

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

artículo científico publicado en 2009

Clinical significance of de novo and inherited copy-number variation

artículo científico

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

artículo científico publicado en 2012

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

artículo científico publicado en 2011

Detection of clinically relevant copy number variants with whole-exome sequencing

artículo científico publicado en 2013

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

artículo científico publicado en 2008

Diagnostic genome profiling in mental retardation

artículo científico publicado en 2005

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

Duplications of SLC1A3: Associated with ADHD and autism

artículo científico publicado en 2016

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

Further refinement of the candidate region for monosomy 9p syndrome

scientific article published on 01 October 2007

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

artículo científico publicado en 2015

Genome-wide arrays in routine diagnostics of hematological malignancies

artículo científico

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

artículo científico publicado en 2012

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome

artículo científico publicado en 2014

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

artículo científico publicado en 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

artículo científico publicado en 2009

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

artículo científico

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

scientific article published on 01 April 2012

Novel genetic causes for cerebral visual impairment

artículo científico publicado en 2015

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

artículo científico publicado en 2011

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

scientific article published on 18 September 2020

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

artículo científico publicado en 2015

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

artículo científico publicado en 2010

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

artículo científico publicado en 2014

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

scientific article published on 25 April 2020

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

artículo científico publicado en 2015

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

artículo científico publicado en 2014

The clustering of functionally related genes contributes to CNV-mediated disease

artículo científico publicado en 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

artículo científico publicado en 2012

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.

artículo científico publicado en 2013

Lista de obras de Nicole de Leeuw

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

Clinical significance of de novo and inherited copy-number variation

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

Detection of clinically relevant copy number variants with whole-exome sequencing

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Diagnostic genome profiling in mental retardation

Diagnostic interpretation of array data using public databases and internet sources

Duplications of SLC1A3: Associated with ADHD and autism

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Further refinement of the candidate region for monosomy 9p syndrome

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

Genome-wide arrays in routine diagnostics of hematological malignancies

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Homozygosity mapping in outbred families with mental retardation

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

Novel genetic causes for cerebral visual impairment

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Refining analyses of copy number variation identifies specific genes associated with developmental delay

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The clustering of functionally related genes contributes to CNV-mediated disease

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The phenotype of recurrent 10q22q23 deletions and duplications

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.