Lista de obras - Björn Menten - Dominio Público Uruguay

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

artículo científico publicado en 2011

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

artículo científico publicado en 2013

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

artículo científico publicado en 2011

A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

artículo científico publicado en 2012

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics

artículo científico publicado en 2020

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

scientific article published on 01 March 2019

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

artículo científico publicado en 2013

Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells

artículo científico publicado en 2021

Alternative Routes to Induce Naïve Pluripotency in Human Embryonic Stem Cells

artículo científico publicado en 2015

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster.

artículo científico publicado en 2010

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

artículo científico publicado en 2011

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples.

artículo científico publicado en 2009

ArrayCGH-based classification of neuroblastoma into genomic subgroups

artículo científico publicado en 2007

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbachâ Rott syndrome

artículo científico publicado en 2009

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

artículo científico publicado en 2016

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

artículo científico publicado en 2012

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

artículo científico publicado en 2017

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

artículo científico publicado en 2009

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.

artículo científico publicado en 2016

Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

artículo científico publicado en 2020

Circulating cell-free DNA for response evaluation of intravascular lymphoma

artículo científico publicado en 2019

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

artículo científico publicado en 2004

Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background.

artículo científico publicado en 2018

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

artículo científico publicado en 2012

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

artículo científico publicado en 2017

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

artículo científico publicado en 2012

DUP25 remains unconfirmed

scientific article published on 01 December 2004

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.

artículo científico publicado en 2013

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

artículo científico publicado en 2008

Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

scientific article published on 17 December 2019

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

artículo científico publicado en 2010

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

artículo científico publicado en 2009

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

artículo científico publicado en 2009

Erratum. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

artículo científico publicado en 2020

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

artículo científico publicado en 2011

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

artículo científico publicado en 2014

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

artículo científico publicado en 2013

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome

artículo científico publicado en 2005

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia

artículo científico publicado en 2019

Flexible analysis of digital PCR experiments using generalized linear mixed models

scientific article published on 24 June 2016

Focal DNA copy number changes in neuroblastoma target MYCN regulated genes

scientific journal article

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

artículo científico publicado en 2014

Genomic and functional overlap between somatic and germline chromosomal rearrangements

artículo científico publicado en 2014

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

artículo científico publicado en 2010

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

article

Haploinsufficiency of TAB2 causes congenital heart defects in humans

artículo científico publicado en 2010

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

artículo científico publicado en 2007

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

artículo científico publicado en 2008

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

artículo científico publicado en 2011

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

artículo científico publicado en 2005

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

artículo científico publicado en 2016

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

artículo científico publicado en 2010

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

artículo científico publicado en 2016

In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis

artículo científico publicado en 2014

Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization.

artículo científico publicado en 2011

Karyotyping, is it worthwhile in transsexualism?

artículo científico publicado en 2010

LNCipedia: a database for annotated human lncRNA transcript sequences and structures

artículo científico publicado en 2013

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in

artículo científico publicado en 2018

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

artículo científico publicado en 2021

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

artículo científico publicado en 2004

Low-cost dedicated mini-arrays for high-throughput analysis of DNA copy-number alterations in neuroblastoma

artículo científico publicado en 2008

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

artículo científico publicado en 2007

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

artículo científico publicado en 2013

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

scientific article published on 19 March 2020

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

artículo científico publicado en 2013

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes

artículo científico publicado en 2011

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

artículo científico publicado en 2004

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

artículo científico publicado en 2005

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

artículo científico publicado en 2017

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

artículo científico publicado en 2011

Nasal speech in patients with 12q15 microdeletions.

artículo científico publicado en 2011

New insights into the phenotype of FARS2 deficiency

artículo científico publicado en 2017

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.

artículo científico publicado en 2011

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

artículo científico publicado en 2007

PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia

article

PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction

artículo científico publicado en 2019

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing.

artículo científico publicado en 2016

Phenotypic and molecular insights into CASK-related disorders in males

artículo científico publicado en 2015

Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11

artículo científico publicado en 2005

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

artículo científico publicado en 2016

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

artículo científico publicado en 2020

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

artículo científico publicado en 2015

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

scientific article published in Scientific Reports

Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Redefining the MED13L syndrome

artículo científico publicado en 2015

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

artículo científico publicado en 2007

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.

artículo científico publicado en 2018

Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients

artículo científico publicado en 2017

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

artículo científico publicado en 2015

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

scientific article published on 21 April 2020

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

scientific article published on 10 December 2020

Smoothing waves in array CGH tumor profiles

artículo científico publicado en 2009

Subtelomeric imbalances in phenotypically normal individuals

artículo científico publicado en 2007

Targeted Genomic Screen Reveals Focal Long Non-Coding RNA Copy Number Alterations in Cancer Cell Lines

artículo científico publicado en 2018

Targeted expression of mutated ALK induces neuroblastoma in transgenic mice.

artículo científico publicado en 2012

Targeted genomic screen reveals focal long non-coding RNA copy number alterations in cancer

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

artículo científico publicado en 2009

The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

article

The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia

artículo científico publicado en 2014

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

artículo científico publicado en 2016

The influence of early embryo traits on human embryonic stem cell derivation efficiency

artículo científico publicado en 2010

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease

artículo científico publicado en 2017

Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1.

artículo científico publicado en 2006

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

artículo científico publicado en 2015

Unusual 8p inverted duplication deletion with telomere capture from 8q.

artículo científico publicado en 2008

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

artículo científico publicado en 2014

WNT Inhibition and Increased FGF Signaling Promotes Derivation of Less Heterogeneous Primed Human Embryonic Stem Cells, Compatible with Differentiation

scientific article published on 02 April 2019

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

artículo científico publicado en 2015

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

scientific article published on 01 February 2019

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

artículo científico publicado en 2016

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

artículo científico publicado en 2005

Lista de obras de Björn Menten

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells

Alternative Routes to Induce Naïve Pluripotency in Human Embryonic Stem Cells

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples.

ArrayCGH-based classification of neuroblastoma into genomic subgroups

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbachâ Rott syndrome

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.

Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

Circulating cell-free DNA for response evaluation of intravascular lymphoma

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

DUP25 remains unconfirmed

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Erratum. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

FOXP1-related intellectual disability syndrome: a recognisable entity

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia

Flexible analysis of digital PCR experiments using generalized linear mixed models

Focal DNA copy number changes in neuroblastoma target MYCN regulated genes

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Genomic and functional overlap between somatic and germline chromosomal rearrangements

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Haploinsufficiency of TAB2 causes congenital heart defects in humans

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis

Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization.

Karyotyping, is it worthwhile in transsexualism?

LNCipedia: a database for annotated human lncRNA transcript sequences and structures

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in

Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Low-cost dedicated mini-arrays for high-throughput analysis of DNA copy-number alterations in neuroblastoma

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions