Heather Etchevers

  • Ph. D.
  • Researcher
  • Staff scientist (CR1)
  • National Institute of Health and Medical Research
  • Agricultural and Biological Sciences
Mendeley Advisor

Research Interests

congenital malformations genetics epigenetics stem cells

Followers (57)

  • Ilya Klabukov

    Ilya Klabukov Pervyj Moskovskij gosudarstvennyj medicinskij universitet imeni I M Se?enova

  • LOUTFY MADKOUR

    LOUTFY MADKOUR Al Baha University Faculty of Science

  • Danielle Bestoso

    Danielle Bestoso

  • Paul Coleman

    Paul Coleman

  • Gisap project

    Gisap project

Explore network

Following (55)

Explore network

About

For the general public: I can be reached by putting in (my names) first.last@inserm.fr
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Publications

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

El Robrini N, Etchevers H, Ryckebüsch L, Faure E, Eudes N, Niederreither K, et al.

Developmental Dynamics (2015)

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Practical application of the new classification scheme for congenital melanocytic nevi

Price H, O'Haver J, Marghoob A, Badger K, Etchevers H, Krengel S

Pediatric Dermatology (2015)

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Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi.

Etchevers H

The Journal of Investigative Dermatology (2014)

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

Yajima I, Colombo S, Puig I, Champeval D, Kumasaka M, Belloir E, et al.

PloS One (2013)

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Au coeur des actions sociales

Etchevers H, Bret T

Kiwanis Magazine (2013)

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

Van Der Werf C, Wabbersen T, Hsiao N, Paredes J, Etchevers H, Kroisel P, et al.

Gastroenterology (2012)

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Etiology of congenital melanocytic nevi and related conditions

Reyes-Múgica M, Beckwith M, Etchevers H

Nevogenesis (Practical Clinical Medicine series) (2012)

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, et al.

PLoS ONE (2012)

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OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis E, Martin-Coignard D, Iacovelli A, Paznekas W, et al.

Journal of Medical Genetics (2012)

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

Krupp D, Xu P, Thomas S, Dellinger A, Etchevers H, Vekemans M, et al.

Birth defects research. Part A, Clinical and molecular teratology (2012)

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

Macé M, Galiacy S, Erraud A, Mejía J, Etchevers H, Allouche M, et al.

Investigative Ophthalmology & Visual Science (2011)

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

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, et al.

European Journal of Human Genetics (2011)

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

de Pontual L, Kettaneh D, Gordon C, Oufadem M, Boddaert N, Lees M, et al.

Human Mutation (2011)

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

Krengel S, Breuninger H, Beckwith M, Etchevers H

Pigment Cell & Melanoma Research (2011)

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Primary culture of chick, mouse or human neural crest cells

Etchevers H

Nature Protocols (2011)

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

Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, et al.

Human Mutation (2010)

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Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment.

Chaabouni M, Etchevers H, De Blois M, Calvas P, Waill-Perrier M, Vekemans M, et al.

Investigative Ophthalmology & Visual Science (2010)

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

de Pontual L, Zaghloul N, Thomas S, Davis E, McGaughey D, Dollfus H, et al.

Proceedings of the National Academy of Sciences of the United States of America (2009)

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

Benko S, Fantes J, Amiel J, Kleinjan D, Thomas S, Ramsay J, et al.

Nature Genetics (2009)

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

Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo G, et al.

American Journal of Human Genetics (2009)

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

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, et al.

Human Mutation (2009)

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

Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, et al.

Human mutation (2009)

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

Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, et al.

European Journal of Medical Genetics (2009)

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

Sajedi E, Gaston-Massuet C, Signore M, Andoniadou C, Kelberman D, Castro S, et al.

Disease Models & Mechanisms (2008)

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Confirmation of RAX gene involvement in human anophthalmia.

Lequeux L, Rio M, Vigouroux A, Titeux M, Etchevers H, Malecaze F, et al.

Clinical Genetics (2008)

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

Thomas S, Thomas M, Wincker P, Babarit C, Xu P, Speer M, et al.

Human Molecular Genetics (2008)

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Bases génétiques et moléculaires des neurocristopathies

Etchevers H, Amiel J, Lyonnet S

Archives de Pédiatrie (2007)

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

Baala L, Briault S, Etchevers H, Laumonnier F, Natiq A, Amiel J, et al.

Nature Genetics (2007)

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

Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, et al.

American Journal of Human Genetics (2007)

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Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.

Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, et al.

American Journal of Medical Genetics. Part A (2007)

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

de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, et al.

European Journal of Cancer (2007)

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

Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, et al.

Prenatal Diagnosis (2006)

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Molecular Bases of Human Neurocristopathies

Etchevers H, Amiel J, Lyonnet S

Neural Crest Induction and Differentiation (2006)

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

Sanlaville* D, Etchevers* H, Gonzales* M, Martinovic J, Clément-Ziza M, Delezoide A, et al.

Journal of Medical Genetics (2006)

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Karmous-Benailly H, Martinovic J, Gubler M, Sirot Y, Clech L, Ozilou C, et al.

Am J Hum Genet (2005)

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Gene expression in pharyngeal arch 1 during human embryonic development.

Cai J, Ash D, Kotch L, Jabs E, Attie-Bitach T, Auge J, et al.

Human Molecular Genetics (2005)

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

Detrait E, George T, Etchevers H, Gilbert J, Vekemans M, Speer M

Neurotoxicology and Teratology (2005)

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

Trueba S, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, et al.

The Journal of Clinical Endocrinology and Metabolism (2005)

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

Deak K, Boyles A, Etchevers H, Melvin E, Siegel D, Graham F, et al.

Human Genetics (2005)

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

Etchevers H

The International Journal of Developmental Biology (2005)

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Vascularisation de la tête et du cou au cours du développement

Detrait E, Etchevers H

Journal of Neuroradiology (2005)

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Vascularisation de la tęte et du cou au cours du développement

Detrait E, Etchevers H

Journal of Neuroradiology (2005)

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

Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, et al.

Journal of Medical Genetics (2004)

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Tout ce que vous voulez savoir sur le nævus géant congénital

Etchevers H

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

Etchevers H

Gene Expression Patterns (2003)

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

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, et al.

Nature Genetics (2003)

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Vasculo-and angio-genesis in the head and neck

Etchevers H

Rivista di Neuroradiologia (2003)

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Morphogenesis of the branchial vascular sector

Etchevers H, Couly G, Le Douarin N

Trends in Cardiovascular Medicine (2002)

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Neural crest and pituitary development

Etchevers H, Vincent C, Couly G

Hypothalamic-pituitary development: genetic and clinical aspects (2001)

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The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain.

Etchevers H, Vincent C, Le Douarin N, Couly G

Development (2001)

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Anterior cephalic neural crest is required for forebrain viability

Etchevers H, Couly G, Vincent C, Le Douarin N

Development (1999)

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Expression of Frzb-1 during chick development.

Duprez D, Leyns L, Bonnin M, Lapointe F, Etchevers H, De Robertis E, et al.

Mechanisms of Development (1999)

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Professional experience

Staff scientist (CR1)

National Institute of Health and Medical Research

May 2003 - Present

Postdoc

INSERM U393, Hôpital Necker Enfants Malades

September 2001 - March 2003 (1 year 6 months)

Postdoc

Institut d‟Embryologie - CNRS UMR 7218

June 1999 - September 2001 (2 years 3 months)

Education history

Université Aix-Marseille II

Habilitation à Diriger les Recherches

September 2011 - February 2012 (5 months)

Université de Paris 06 - Université Pierre et Marie Curie

Ph. D.

September 1994 - June 1999 (4 years 9 months)

University of California Berkeley

Ph. D.

September 1992 - December 1998 (6 years 3 months)

Wellesley College

B.A.

September 1988 - June 1992 (3 years 9 months)