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Chromosome 22q11.2 deletion syndrome.
Pereira E, Marion R. Pereira E, et al. Among authors: marion r. Pediatr Rev. 2015 Jun;36(6):270-2; discussion 272. doi: 10.1542/pir.36-6-270. Pediatr Rev. 2015. PMID: 26034260 No abstract available.
Trisomies.
Levy PA, Marion R. Levy PA, et al. Among authors: marion r. Pediatr Rev. 2018 Feb;39(2):104-106. doi: 10.1542/pir.2016-0198. Pediatr Rev. 2018. PMID: 29437136 No abstract available.
Contiguous Gene Syndromes.
Pereira E, Marion R. Pereira E, et al. Among authors: marion r. Pediatr Rev. 2018 Jan;39(1):46-49. doi: 10.1542/pir.2016-0073. Pediatr Rev. 2018. PMID: 29292292 Review. No abstract available.
Hepatoblastoma in a mosaic trisomy 18 patient.
Pereira EM, Marion R, Ramesh KH, Kim JS, Ewart M, Ricafort R. Pereira EM, et al. Among authors: marion r. J Pediatr Hematol Oncol. 2012 May;34(4):e145-8. doi: 10.1097/MPH.0b013e3182459ee8. J Pediatr Hematol Oncol. 2012. PMID: 22469941 Review.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. Rosenfeld JA, et al. Among authors: marion r. Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5. Neurogenetics. 2012. PMID: 22218741
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. Among authors: marion r. 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.
256 results