Heather Etchevers, Ph. D.
Staff scientist (CR1), INSERMMarseille, France
Research field: Biological Sciences - Embryology
congenital malformations, genetics, epigenetics, stem cells
Publications
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Book Section (3)
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Heather C Etchevers, Jeanne Amiel, Stanislas Lyonnet (2006) Molecular Bases of Human Neurocristopathies. In Neural Crest Induction and Differentiation.Download PDF (146.77 KB)
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Heather C Etchevers, Christine Vincent, Gérard Couly (2001) Neural crest and pituitary development, 13-29. In Hypothalamic-pituitary development: genetic and clinical aspects.Download PDF (1.97 MB)
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Heather C Etchevers, Christine Vincent, Gérard Couly (2001) Neural crest and pituitary development, 180. In Hypothalamic-pituitary development: genetic and clinical aspects.Download PDF (149.79 KB)
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Generic (1)
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Christelle Golzio, Heather C Etchevers PCR primers for direct sequencing of human FGF10 and FGFR2, 368-368.
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Journal Article (20)
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Marie Cognet, Agnés Nougayrede, Valérie Malan et al. (2011) Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.. In European journal of human genetics : EJHG.
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Loïc de Pontual, Dania Kettaneh, Christopher T. Gordon et al. (2011) Germline gain-of-function mutations of ALK disrupt central nervous system development, 272-276. In Human Mutation 32 (3).Download PDF (264.58 KB)
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Sabina Benko, Judy A Fantes, Jeanne Amiel et al. (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence., 359-64. In Nature Genetics 41 (3).Download PDF (465.44 KB)
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Loïc de Pontual, Yves Mathieu, Christelle Golzio et al. (2009) Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome., 669-76. In Human mutation 30 (4).Download PDF (658.63 KB)
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Nicolas Chassaing, Christelle Golzio, Sylvie Odent et al. (2009) Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia.. In Human mutation.Download PDF (183.78 KB)
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L Lequeux, M Rio, A Vigouroux et al. (2008) Confirmation of RAX gene involvement in human anophthalmia., 392-5. In Clinical genetics 74 (4).Download PDF (219.22 KB)
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H Etchevers, J Amiel, S Lyonnet (2007) Bases génétiques et moléculaires des neurocristopathies, 668-672. In Archives de Pédiatrie 14 (6).Download PDF (144.86 KB)
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Lekbir Baala, Sylvain Briault, Heather C Etchevers et al. (2007) Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis., 454-6. In Nature genetics 39 (4).Download PDF (301.82 KB)
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Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Christelle Golzio et al. (2007) Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2., 219-28. In American Journal of Medical Genetics. Part A 143 (3).Download PDF (470.55 KB)
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Loïc de Pontual, Delphine Trochet, Franck Bourdeaut et al. (2007) Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma., 2366-72. In European journal of cancer (Oxford, England : 1990) 43 (16).Download PDF (413.36 KB)
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CV
Professional Experience
2003 - Present
Staff scientist (CR1) at INSERM
Marseille, France
Marseille, France
Education
Sep 1994 - Jun 1999
Université de Paris 06 - Université Pierre et Marie Curie
Ph. D.
Ph. D.
Sep 1992 - Dec 1998
University of California - Berkeley
Ph. D.
Ph. D.
Sep 1988 - Jun 1992
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