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16

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Article dans une revue12 documents

  • Nicolas Chassaing, Erica E. Davis, Kelly L. Mcknight, Adrienne R. Niederriter, Alexandre Causse, et al.. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Research, Cold Spring Harbor Laboratory Press, 2016, 26 (4), pp.474-485. <10.1101/gr.196048.115>. <hal-01282340>
  • Nicolas El Robrini, Heather C. Etchevers, Lucile Ryckebuesch, Emilie Faure, Nathalie Eudes, et al.. Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages. Developmental Dynamics, Wiley, 2016, 245 (3), pp.388-401. <10.1002/dvdy.24357>. <hal-01469053>
  • Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Gregory Nuel, Candice Babarit, et al.. ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.. PLoS ONE, Public Library of Science, 2012, 7 (1), pp.e30677. <10.1371/journal.pone.0030677>. <hal-00686361>
  • Loic De Pontual, Dania Kettaneh, Chris Gordon, Myriam Oufadem, Nathalie Boddaert, et al.. GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT. Human Mutation, Wiley, 2011, 32 (3), pp.272. <10.1002/humu.21442>. <hal-00616287>
  • Loic De Pontual, Marie Cognet, Agnès Nougayrede, Valérie Malan, Patrick Callier, et al.. Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia. European Journal of Human Genetics, Nature Publishing Group, 2011, <10.1038/ejhg.2010.225>. <hal-00608020>
  • Sophie Thomas, Ferechte Encha-Razavi, Louise Devisme, Heather C Etchevers, Bettina Bessieres-Grattagliano, et al.. High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy. Human Mutation, Wiley, 2010, 31 (10), pp.1134. <10.1002/humu.21329>. <hal-00574003>
  • S. Benko, Fantes Ja, J. Amiel, Kleinjan Dj, S. Thomas, et al.. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.. Nature Genetics, Nature Publishing Group, 2009, 41(3), pp.359-364. <hal-00406268>
  • Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, et al.. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.. Human Mutation, Wiley, 2009, 30 (5), pp.E673-81. <10.1002/humu.21023>. <inserm-00372285>
  • Loïc De Pontual, Norann A Zaghloul, Sophie Thomas, Erica E Davis, David M Mcgaughey, et al.. Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.. Proceedings of the National Academy of Sciences of the United States of America , National Academy of Sciences, 2009, 106 (33), pp.13921-6. <10.1073/pnas.0901219106>. <pasteur-00604838>
  • L. Lequeux, Marlène Rio, Armelle Vigouroux, Matthias Titeux, Heather Etchevers, et al.. Confirmation of RAX gene involvement in human anophthalmia.: RAX mutations in anophthalmia. Clinical Genetics, Wiley, 2008, 74 (4), pp.392-395. <10.1111/j.1399-0004.2008.01078.x>. <inserm-00322979>
  • Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Soumaya Mougou-Zrelli, Bettina Grattagliano-Bessieres, et al.. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.. American Journal of Human Genetics, Elsevier (Cell Press), 2007, 80 (6), pp.1179-87. <10.1086/518177>. <hal-00172593>
  • Loïc De Pontual, Delphine Trochet, Franck Bourdeaut, Sophie Thomas, Heather Etchevers, et al.. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.. European Journal of Cancer, Elsevier, 2007, 43 (16), pp.2366-72. <10.1016/j.ejca.2007.07.016>. <inserm-00323027>

Chapitre d'ouvrage1 document

Pré-publication, Document de travail1 document

  • Heather Etchevers. Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins. 2017. <hal-01586419>

HDR2 documents

  • Heather Etchevers. University habilitation to direct research. Embryology and Organogenesis. Université de la Méditerranée - Aix-Marseille II, 2012. <tel-00709758>
  • Heather Etchevers. Qualification thesis to directing research at the University of the Mediterranean Aix-Marseille II. Development Biology. Aix-Marseille Université (AMU), 2012. <tel-01469161>