List of works - Heather Etchevers

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

scientific article

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

scientific article (publication date: March 2009)

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

scientific article published on 5 March 2005

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

scientific article published on 25 June 2009

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

scientific article

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

scientific article published on 11 April 2007

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

scientific article

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

scientific article (publication date: April 2009)

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

scientific article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

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

scientific article published in May 2009

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

scientific article published on 08 August 2008

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

scientific article

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

scholarly article

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

scientific article published in May 2004

OTX2 mutations contribute to the otocephaly-dysgnathia complex

scientific article published on 10 May 2012

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

Confirmation of RAX gene involvement in human anophthalmia.

scientific article published on 09 September 2008

Gene expression in pharyngeal arch 1 during human embryonic development

scientific article published on 9 February 2005

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

scientific article

Primary culture of chick, mouse or human neural crest cells

scientific article published on September 22, 2011

Expression of Frzb-1 during chick development.

scientific article published in December 1999

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

scientific article

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

scientific article published on 03 August 2011

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

scientific article published in March 2011

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

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

Morphogenesis of the branchial vascular sector

scientific article

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

scientific article

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

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

scientific article

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

scientific article published on 31 August 2007

The diverse neural crest: from embryology to human pathology

scientific article published on 11 March 2019

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

scientific article published on 25 July 2009

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

scientific article

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

scientific article published on 13 December 2018

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

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

scientific article published on 28 October 2015

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

scientific article

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

scientific article published on 01 March 2003

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

scientific article published on 4 July 2011

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

scientific article

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

scientific article published on 01 December 2006

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

scientific article published on April 1, 2014

Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi

scientific article published on 27 October 2014

The hedgehog pathway and ocular developmental anomalies

scientific article published on 02 August 2018

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

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

scientific article published on 01 June 2018

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

article

DNA sequencing and quick clean-up

scientific article published on 20 March 2007

List of works by Heather Etchevers

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

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

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

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

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

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

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

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

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

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

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

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

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

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

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

OTX2 mutations contribute to the otocephaly-dysgnathia complex

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

Confirmation of RAX gene involvement in human anophthalmia.

Gene expression in pharyngeal arch 1 during human embryonic development

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

Primary culture of chick, mouse or human neural crest cells

Expression of Frzb-1 during chick development.

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

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

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

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

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

Morphogenesis of the branchial vascular sector

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

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

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

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

The diverse neural crest: from embryology to human pathology

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

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

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

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

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

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

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

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

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

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

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

Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi

The hedgehog pathway and ocular developmental anomalies

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

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

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

DNA sequencing and quick clean-up