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Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.
Berko ER, Suzuki M, Beren F, Lemetre C, Alaimo CM, Calder RB, Ballaban-Gil K, Gounder B, Kampf K, Kirschen J, Maqbool SB, Momin Z, Reynolds DM, Russo N, Shulman L, Stasiek E, Tozour J, Valicenti-McDermott M, Wang S, Abrahams BS, Hargitai J, Inbar D, Zhang Z, Buxbaum JD, Molholm S, Foxe JJ, Marion RW, Auton A, Greally JM. Berko ER, et al. Among authors: marion rw. PLoS Genet. 2014 May 29;10(5):e1004402. doi: 10.1371/journal.pgen.1004402. eCollection 2014. PLoS Genet. 2014. PMID: 24875834 Free PMC article.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.
Hepatoblastoma in a mosaic trisomy 18 patient.
Pereira EM, Marion R, Ramesh KH, Kim JS, Ewart M, Ricafort R. Pereira EM, et al. J Pediatr Hematol Oncol. 2012 May;34(4):e145-8. doi: 10.1097/MPH.0b013e3182459ee8. J Pediatr Hematol Oncol. 2012. PMID: 22469941 Review.
Contiguous Gene Syndromes.
Pereira E, Marion R. Pereira E, et al. Pediatr Rev. 2018 Jan;39(1):46-49. doi: 10.1542/pir.2016-0073. Pediatr Rev. 2018. PMID: 29292292 Review. No abstract available.
84 results