McDonald-McGinn DM - Search Results

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. 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.

2

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.

3

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

Gripp KW, Scott CI Jr, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. Gripp KW, et al. Am J Med Genet. 2002 Feb 15;108(1):80-7. doi: 10.1002/ajmg.10241. Am J Med Genet. 2002. PMID: 11857556

4

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web.

McElhinney DB, Jacobs I, McDonald-McGinn DM, Zackai EH, Goldmuntz E. McElhinney DB, et al. Int J Pediatr Otorhinolaryngol. 2002 Oct 21;66(1):23-27. doi: 10.1016/s0165-5876(02)00184-2. Int J Pediatr Otorhinolaryngol. 2002. PMID: 12363418

5

Genitourinary malformations in chromosome 22q11.2 deletion.

Wu HY, Rusnack SL, Bellah RD, Plachter N, McDonald-McGinn DM, Zackai EH, Canning DA. Wu HY, et al. J Urol. 2002 Dec;168(6):2564-5. doi: 10.1016/S0022-5347(05)64215-2. J Urol. 2002. PMID: 12441983

6

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.

Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Lawrence S, et al. J Pediatr. 2003 Aug;143(2):277-8. doi: 10.1067/S0022-3476(03)00248-8. J Pediatr. 2003. PMID: 12970648

7

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.

Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. Piliero LM, et al. Blood. 2004 Feb 1;103(3):1020-5. doi: 10.1182/blood-2003-08-2824. Epub 2003 Oct 2. Blood. 2004. PMID: 14525774 Free article.

8

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Ming JE, et al. Am J Med Genet A. 2003 Dec 15;123A(3):249-52. doi: 10.1002/ajmg.a.20277. Am J Med Genet A. 2003. PMID: 14608645 Review.

9

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Saitta SC, et al. Hum Mol Genet. 2004 Feb 15;13(4):417-28. doi: 10.1093/hmg/ddh041. Epub 2003 Dec 17. Hum Mol Genet. 2004. PMID: 14681306 Free PMC article.

10

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.

Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA. Saitta SC, et al. Am J Med Genet A. 2004 Jan 30;124A(3):313-7. doi: 10.1002/ajmg.a.20421. Am J Med Genet A. 2004. PMID: 14708107 Free PMC article.

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