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10

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Article dans une revue9 documents

  • 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, 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>

HDR1 document

  • Heather Etchevers. University habilitation to direct research. Embryology and Organogenesis. Université de la Méditerranée - Aix-Marseille II, 2012. <tel-00709758>