List of works - Heather Etchevers

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

scientific article published on 29 April 2019

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

scientific article

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

scientific article published on 6 November 2008

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

Bases génétiques et moléculaires des neurocristopathies

scientific article published on 16 April 2007

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

scientific article

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages

scientific article published on 28 October 2015

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

scientific article published on 03 August 2011

Confirmation of RAX gene involvement in human anophthalmia.

scientific article published on 09 September 2008

Crosstalk between NF-kappaB and Wnt/beta-catenin pathways involved in skin appendages development

article

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

scientific article published on 01 December 2006

DNA sequencing and quick clean-up

scientific article published on 20 March 2007

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Early expression of hypoxia-inducible factor 1α in the chicken embryo

scientific article published on 01 March 2003

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

scientific article published on 01 June 2018

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

scientific article published in May 2004

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

scientific article published on 12 December 2019

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Etiology of Congenital Melanocytic Nevi and Related Conditions

scientific article published in 2012

Expression of Frzb-1 during chick development.

scientific article published in December 1999

Gene expression in pharyngeal arch 1 during human embryonic development

scientific article published on 9 February 2005

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

scientific article

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

scientific article published on 5 January 2018

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

scientific article

Hiding in Plain Sight: Molecular Genetics Applied to Giant Congenital Melanocytic Nevi

article

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

scientific article

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

scientific article published on 08 August 2008

Human neural tube defects: developmental biology, epidemiology, and genetics

scientific article published on 5 March 2005

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

scientific article

Identification of theIRXBGene Cluster as Candidate Genes in Severe Dysgenesis of the Ocular Anterior Segment

article

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

scientific article published on 25 June 2009

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

scientific article published on 13 December 2018

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

scientific article published on 11 April 2007

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen

scientific article published on 4 July 2011

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

scientific article published on 31 August 2007

Morphogenesis of the branchial vascular sector

scientific article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

OTX2 mutations contribute to the otocephaly-dysgnathia complex

scientific article published on 10 May 2012

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

scientific article

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

scientific article published on 14 June 2017

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

scientific article

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

scientific article published in May 2009

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

scientific article

Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi

scientific article published on 27 October 2014

Primary culture of chick, mouse or human neural crest cells ⬇️

scientific article published on September 22, 2011

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

scientific article published on 25 July 2009

Reply to: "Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules".

scientific article published on 23 January 2018

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

scientific article published on 10 May 2005

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

scientific article published on 24 December 2021

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

scientific article published on 18 February 2016

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

scientific article published in January 2005

The diverse neural crest: from embryology to human pathology

scientific article published on 11 March 2019

The hedgehog pathway and ocular developmental anomalies

scientific article published on 02 August 2018

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

scientific article

Vascularisation de la tête et du cou au cours du développement

scientific article published on 01 June 2005

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

scientific article published on 08 January 2018

List of works by Heather Etchevers

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bases génétiques et moléculaires des neurocristopathies

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

Confirmation of RAX gene involvement in human anophthalmia.

Crosstalk between NF-kappaB and Wnt/beta-catenin pathways involved in skin appendages development

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

DNA sequencing and quick clean-up

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Early expression of hypoxia-inducible factor 1α in the chicken embryo

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Etiology of Congenital Melanocytic Nevi and Related Conditions

Expression of Frzb-1 during chick development.

Gene expression in pharyngeal arch 1 during human embryonic development

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Germline gain-of-function mutations of ALK disrupt central nervous system development

Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

Hiding in Plain Sight: Molecular Genetics Applied to Giant Congenital Melanocytic Nevi

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

Human neural tube defects: developmental biology, epidemiology, and genetics

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

Identification of theIRXBGene Cluster as Candidate Genes in Severe Dysgenesis of the Ocular Anterior Segment

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Morphogenesis of the branchial vascular sector

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

OTX2 mutations contribute to the otocephaly-dysgnathia complex

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi

Primary culture of chick, mouse or human neural crest cells ⬇️

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

Reply to: "Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules".

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

The diverse neural crest: from embryology to human pathology

The hedgehog pathway and ocular developmental anomalies

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Vascularisation de la tête et du cou au cours du développement

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development