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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: bailey a. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. McDonald-McGinn DM, et al. Among authors: bailey a. J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11. J Med Genet. 2013. PMID: 23231787 Free PMC article.
Cardiac evaluation of patients with 22q11.2 duplication syndrome.
Butensky A, de Rinaldis CP, Patel S, Edman S, Bailey A, McGinn DE, Zackai E, Crowley TB, McDonald-McGinn DM, Min J, Goldmuntz E. Butensky A, et al. Among authors: bailey a. Am J Med Genet A. 2021 Mar;185(3):753-758. doi: 10.1002/ajmg.a.62032. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369133
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Pastor S, Tran O, Jin A, Carrado D, Silva BA, Uppuluri L, Abid HZ, Young E, Crowley TB, Bailey AG, McGinn DE, McDonald-McGinn DM, Zackai EH, Xie M, Taylor D, Morrow BE, Xiao M, Emanuel BS. Pastor S, et al. Among authors: bailey ag. Sci Rep. 2020 Jul 22;10(1):12235. doi: 10.1038/s41598-020-69134-4. Sci Rep. 2020. PMID: 32699385 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. Among authors: bailey a. 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.
Magnetic resonance angiography (MRA) in preoperative planning for patients with 22q11.2 deletion syndrome undergoing craniofacial and otorhinolaryngologic procedures.
Kimia R, Elden L, Dailey J, Kodavatiganti M, Crowley TB, McGinn DE, Bailey A, Zackai EH, McDonald-McGinn DM, Jackson OA. Kimia R, et al. Among authors: bailey a. Int J Pediatr Otorhinolaryngol. 2020 Nov;138:110236. doi: 10.1016/j.ijporl.2020.110236. Epub 2020 Jul 20. Int J Pediatr Otorhinolaryngol. 2020. PMID: 32890936
2,398 results