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272 results

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Page 1
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: goldmuntz e. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 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.
DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Goldmuntz E, Emanuel BS, Driscoll DA. Wilson TA, et al. Among authors: goldmuntz e. Am J Med Genet. 1993 Nov 15;47(7):1078-82. doi: 10.1002/ajmg.1320470729. Am J Med Genet. 1993. PMID: 8291527
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.
Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel J, Bell CJ, Emanuel BS. Budarf ML, et al. Among authors: goldmuntz e. Genomics. 1996 Jul 15;35(2):275-88. doi: 10.1006/geno.1996.0358. Genomics. 1996. PMID: 8661140 Free article.
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
272 results