McDonald-McGinn DM - Search Results

1

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.

2

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Oldridge M, et al. Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137. Hum Mol Genet. 1997. PMID: 9002682

3

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Driscoll DA, et al. Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237. Am J Med Genet. 1992. PMID: 1360769

4

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

5

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Driscoll DA, et al. J Med Genet. 1993 Oct;30(10):813-7. doi: 10.1136/jmg.30.10.813. J Med Genet. 1993. PMID: 8230155 Free PMC article.

6

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. McDonald-McGinn DM, et al. Am J Med Genet. 1995 Oct 23;59(1):103-13. doi: 10.1002/ajmg.1320590122. Am J Med Genet. 1995. PMID: 8849001

7

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. Sullivan KE, et al. Arthritis Rheum. 1997 Mar;40(3):430-6. doi: 10.1002/art.1780400307. Arthritis Rheum. 1997. PMID: 9082929

8

Nasal dimple as part of the 22q11.2 deletion syndrome.

Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Gripp KW, et al. Am J Med Genet. 1997 Mar 31;69(3):290-2. Am J Med Genet. 1997. PMID: 9096759

9

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ 3rd, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. McDonald-McGinn DM, et al. Pediatrics. 1997 May;99(5):E9. doi: 10.1542/peds.99.5.e9. Pediatrics. 1997. PMID: 9113966

10

Arthritis associated with deletion of 22q11.2: more common than previously suspected.

Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH. Keenan GF, et al. Am J Med Genet. 1997 Sep 5;71(4):488. Am J Med Genet. 1997. PMID: 9286462 No abstract available.

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