Lista de obras - Heather Etchevers - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

artículo científico publicado en 2005

Bases génétiques et moléculaires des neurocristopathies

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico

Confirmation of RAX gene involvement in human anophthalmia.

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

DNA sequencing and quick clean-up

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2012

Expression of Frzb-1 during chick development.

artículo científico publicado en 1999

Gene expression in pharyngeal arch 1 during human embryonic development

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Morphogenesis of the branchial vascular sector

artículo científico publicado en 2002

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

artículo científico publicado en 2009

OTX2 mutations contribute to the otocephaly-dysgnathia complex

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi

artículo científico publicado en 2014

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

artículo científico publicado el 22 de septiembre de 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2021

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

The diverse neural crest: from embryology to human pathology

artículo científico publicado en 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).

artículo científico publicado en 2012

Vascularisation de la tête et du cou au cours du développement

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Lista de obras de 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