Lista de obras - Hilde Van Esch - Dominio Público Uruguay

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

artículo científico publicado en 2015

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

artículo científico publicado en 2015

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

artículo científico publicado en 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

artículo científico publicado en 2009

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

artículo científico publicado en 2009

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

artículo científico publicado en 2005

Direct fluorescent labelling of clones by DOP PCR

artículo científico publicado en 2008

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

artículo científico publicado en 2005

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

artículo científico publicado en 2013

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

artículo científico publicado en 2014

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

artículo científico publicado en 2008

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

artículo científico publicado en 2014

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

scientific journal article

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

artículo científico publicado en 2015

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

artículo científico publicado en 2016

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

artículo científico publicado en 2011

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

artículo científico publicado en 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

artículo científico publicado en 2015

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

artículo científico publicado en 2011

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

artículo científico publicado en 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

artículo científico publicado en 2015

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

artículo científico publicado en 2011

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

artículo científico publicado en 2004

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

artículo científico publicado en 2013

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

artículo científico publicado en 2010

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

artículo científico publicado en 2012

Network analysis of differential expression for the identification of disease-causing genes

artículo científico publicado en 2009

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

scientific journal article

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

artículo científico publicado en 2015

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

artículo científico publicado en 2015

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

artículo científico publicado en 2016

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

artículo científico publicado en 2008

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients

artículo científico publicado en 2015

Pseudoautosomal region 1 length polymorphism in the human population

artículo científico publicado en 2014

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

The Fragile X premutation: new insights and clinical consequences

artículo científico publicado en 2005

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

artículo científico publicado el 20 de junio de 2013

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

artículo científico publicado en 2014

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

artículo científico publicado en 2005

Lista de obras de Hilde Van Esch

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

Direct fluorescent labelling of clones by DOP PCR

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

Duplications of 17q12 can cause familial fever-related epilepsy syndromes

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Infectious and immunologic phenotype of MECP2 duplication syndrome

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Network analysis of differential expression for the identification of disease-causing genes

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients

Pseudoautosomal region 1 length polymorphism in the human population

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

The Fragile X premutation: new insights and clinical consequences

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family