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271 results

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: goldmuntz e. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.
Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, et al. Emanuel BS, et al. Among authors: goldmuntz e. Prog Clin Biol Res. 1993;384:207-24. Prog Clin Biol Res. 1993. PMID: 8115404 Review. No abstract available.
Frequency of 22q11 deletions in patients with conotruncal defects.
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Goldmuntz E, et al. J Am Coll Cardiol. 1998 Aug;32(2):492-8. doi: 10.1016/s0735-1097(98)00259-9. J Am Coll Cardiol. 1998. PMID: 9708481 Free article.
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: goldmuntz e. Genet Couns. 1999;10(1):11-24. Genet Couns. 1999. PMID: 10191425
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Among authors: goldmuntz e. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633
271 results