McDonald-McGinn DM - Search Results

1

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. Retraction in: Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. PMID: 28965848 Free PMC article. Retracted.

2

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

3

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

4

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

5

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

6

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.

7

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.

8

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.

9

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.

10

Long-term follow-up of three individuals with Kabuki syndrome.

Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM. Shalev SA, et al. Am J Med Genet A. 2004 Mar 1;125A(2):191-200. doi: 10.1002/ajmg.a.20375. Am J Med Genet A. 2004. PMID: 14981723

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