McDonald-McGinn DM - Search Results

1

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

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

Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?

Kirschner RE, Low DW, Randall P, Bartlett SP, McDonald-McGinn DM, Schultz PJ, Zackai EH, LaRossa D. Kirschner RE, et al. Cleft Palate Craniofac J. 2003 Jan;40(1):13-8. doi: 10.1597/1545-1569_2003_040_0013_samipr_2.0.co_2. Cleft Palate Craniofac J. 2003. PMID: 12498601

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

283 results

Search Page

Filters