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De novo interstitial tandem duplication of chromosome 4(q21-q28).
Navarro EG, Romero MC, Expósito IL, Velasco CM, Llamas JG, Ramón FJ, Jimenez RD. Navarro EG, et al. Am J Med Genet. 1996 Mar 29;62(3):297-9. doi: 10.1002/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F. Am J Med Genet. 1996. PMID: 8882791 Review.
Craniosynostosis in Kabuki syndrome.
Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA. Martínez-Lage JF, et al. Among authors: navarro eg. J Neurosurg Pediatr. 2010 Aug;6(2):198-201. doi: 10.3171/2010.5.PEDS09286. J Neurosurg Pediatr. 2010. PMID: 20672944
Tspan8 is expressed in breast cancer and regulates E-cadherin/catenin signalling and metastasis accompanied by increased circulating extracellular vesicles.
Voglstaetter M, Thomsen AR, Nouvel J, Koch A, Jank P, Navarro EG, Gainey-Schleicher T, Khanduri R, Groß A, Rossner F, Blaue C, Franz CM, Veil M, Puetz G, Hippe A, Dindorf J, Kashef J, Thiele W, Homey B, Greco C, Boucheix C, Baur A, Erbes T, Waller CF, Follo M, Hossein G, Sers C, Sleeman J, Nazarenko I. Voglstaetter M, et al. Among authors: navarro eg. J Pathol. 2019 Aug;248(4):421-437. doi: 10.1002/path.5281. Epub 2019 Jun 18. J Pathol. 2019. PMID: 30982971 Free PMC article.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.