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Journal articles26 documents

  • Heather Etchevers, Elisabeth Dupin, Nicole M. Le Douarin. The diverse neural crest: from embryology to human pathology. Development, 2019, 146 (5), ⟨10.1242/dev.169821⟩. ⟨hal-02478901⟩
  • Livingstone Fultang, Laura D. Gamble, Luciana Gneo, Andrea M. Berry, Sharon A. Egan, et al.. Macrophage-Derived IL1 beta and TNF alpha Regulate Arginine Metabolism in Neuroblastoma. CANCER RESEARCH, 2019, 79 (3), pp.611-624. ⟨10.1158/0008-5472.CAN-18-2139⟩. ⟨hal-02462178⟩
  • Bader Almutairi, Jessica Charlet, Anthony Dallosso, Marianna Szemes, Heather Etchevers, et al.. Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes. Scientific Reports, Nature Publishing Group, 2019, pp.18934. ⟨10.1038/s41598-019-55382-6⟩. ⟨hal-02407665⟩
  • Hager Jaouadi, Amel Ben Chehida, Lilia Kraoua, Heather Etchevers, Laurent Argiro, et al.. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. Genetics Research, Cambridge University Press (CUP), 2019, 101, pp.e6. ⟨10.1017/S0016672319000041⟩. ⟨hal-02461305⟩
  • Livingstone Fultang, Laura Gamble, Luciana Gneo, Andrea Berry, Sharon Egan, et al.. Macrophage IL-1B and TNF-a create an immune-metabolic loop regulating Arginase2 in neuroblastoma. Cancer Research, American Association for Cancer Research, In press. ⟨hal-01920354⟩
  • Heather Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frederic Fina, et al.. Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF. Pigment Cell and Melanoma Research, In press, ⟨10.1111/pcmr.12685⟩. ⟨hal-01613153v2⟩
  • Nicolas Macagno, Heather C. Etchevers, Nausicaa Malissen, Angelique Rome, Sylvie Hesse, et al.. Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules Reply. American Journal of Surgical Pathology, Lippincott, Williams & Wilkins, 2018, 42 (5), pp.701-704. ⟨hal-02000327⟩
  • Stéphane Zaffran, Gaelle Odelin, Sonia Stefanovic, Fabienne Lescroart, Heather Etchevers. Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations. Genesis, Wiley-Blackwell, 2018, pp.e23221. ⟨10.1101/300368⟩. ⟨hal-01851980⟩
  • Florencia Cavodeassi, Sophie Creuzet, Heather Etchevers. The hedgehog pathway and ocular developmental anomalies. Human Genetics, Springer Verlag, In press, ⟨10.1007/s00439-018-1918-8⟩. ⟨hal-01853948⟩
  • Heather Etchevers, Elisabeth Dupin, Nicole Le Douarin. The diverse neural crest: from embryology to human pathology. Development (Cambridge, England), Company of Biologists, In press. ⟨hal-01851974v2⟩
  • Anna C. Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, et al.. Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development. Birth Defects Research, Wiley, 2018, 110 (5), pp.443-455. ⟨10.1002/bdr2.1183⟩. ⟨hal-01847993⟩
  • Valentina Boeva, Caroline Louis-Brennetot, Agathe Peltier, Simon Durand, Cecile Pierre-Eugene, et al.. Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nature Genetics, Nature Publishing Group, 2017, 49 (9), pp.1408-1413. ⟨10.1038/ng.3921⟩. ⟨hal-01741718⟩
  • Nicolas El Robrini, Heather C. Etchevers, Lucile Ryckebüsch, 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⟩
  • 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⟩
  • 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⟩
  • 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⟩
  • Sarah Boissel, Orit Reish, Karine Proulx, Hiroko Kawagoe-Takaki, Barbara Sedgwick, et al.. Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations. American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩. ⟨hal-02044723⟩
  • 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⟩
  • Loic de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, et al.. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Human Mutation, Wiley, 2009, 30 (4), pp.669-676. ⟨10.1002/humu.20935⟩. ⟨hal-02134020⟩
  • 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⟩

Book sections1 document

Preprints, Working Papers, ...3 documents

  • Nicolas Macagno, Daniel Pissaloux, Heather Etchevers, Véronique Haddad, Béatrice Vergier, et al.. Cutaneous melanocytic tumors with concomitant NRAS Q61R and IDH1 R132C mutations: a report of six cases. 2020. ⟨hal-02540120⟩
  • Neus Calbet-Llopart, Mirella Pascini-Garrigos, Gemma Tell-Martí, Miriam Potrony, Vanessa Martins da Silva, et al.. Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi Institutional affiliations. 2020. ⟨hal-02540105⟩
  • Heather Etchevers. Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins. 2017. ⟨hal-01586419⟩

Habilitation à diriger des recherches2 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⟩