McDonald-McGinn DM - Search Results

1

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Lin AE, et al. Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111. Genet Med. 2008. PMID: 18580689 Free PMC article. Review.

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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Kondo S, et al. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Nat Genet. 2002. PMID: 12219090 Free PMC article.

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

Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.

Zackai EH, McDonald-McGinn DM, Stolle C, Huff DS. Zackai EH, et al. Clin Dysmorphol. 2003 Jul;12(3):209. doi: 10.1097/01.mcd.0000080414.95344.ae. Clin Dysmorphol. 2003. PMID: 14564165

9

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.

10

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.

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