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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Chassaing N, et al. Among authors: etchevers hc. Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18. Genome Res. 2016. PMID: 26893459 Free PMC article.
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. Chassaing N, et al. Among authors: etchevers hc. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10. J Med Genet. 2012. PMID: 22577225
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries.
Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugène C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grünewald TGP, Diaz E, Ducos B, Surdez D, Carcaboso AM, Medvedeva I, Deller T, Combaret V, Lapouble E, Pierron G, Grossetête-Lalami S, Baulande S, Schleiermacher G, Barillot E, Rohrer H, Delattre O, Janoueix-Lerosey I. Boeva V, et al. Among authors: etchevers hc. Nat Genet. 2017 Sep;49(9):1408-1413. doi: 10.1038/ng.3921. Epub 2017 Jul 24. Nat Genet. 2017. PMID: 28740262
Molecular bases of human neurocristopathies.
Etchevers HC, Amiel J, Lyonnet S. Etchevers HC, et al. Adv Exp Med Biol. 2006;589:213-34. doi: 10.1007/978-0-387-46954-6_14. Adv Exp Med Biol. 2006. PMID: 17076285 Review. No abstract available.
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.
Trueba SS, Augé J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attié-Bitach T. Trueba SS, et al. Among authors: etchevers h. J Clin Endocrinol Metab. 2005 Jan;90(1):455-62. doi: 10.1210/jc.2004-1358. Epub 2004 Oct 19. J Clin Endocrinol Metab. 2005. PMID: 15494458
The hedgehog pathway and ocular developmental anomalies.
Cavodeassi F, Creuzet S, Etchevers HC. Cavodeassi F, et al. Hum Genet. 2019 Sep;138(8-9):917-936. doi: 10.1007/s00439-018-1918-8. Epub 2018 Aug 2. Hum Genet. 2019. PMID: 30073412 Free PMC article. Review.
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