McDonald-McGinn DM - Search Results

1

Communication disorders in the 22Q11.2 microdeletion syndrome.

Solot CB, Knightly C, Handler SD, Gerdes M, McDonald-McGinn DM, Moss E, Wang P, Cohen M, Randall P, Larossa D, Driscoll DA. Solot CB, et al. J Commun Disord. 2000 May-Jun;33(3):187-203; quiz 203-4. doi: 10.1016/s0021-9924(00)00018-6. J Commun Disord. 2000. PMID: 10907715

2

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

3

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.

4

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA. Budarf ML, et al. Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763. Hum Mol Genet. 1995. PMID: 7633430 No abstract available.

5

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

6

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Goldmuntz E, et al. J Med Genet. 1993 Oct;30(10):807-12. doi: 10.1136/jmg.30.10.807. J Med Genet. 1993. PMID: 7901419 Free PMC article.

7

Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.

Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, et al. Emanuel BS, et al. Prog Clin Biol Res. 1993;384:207-24. Prog Clin Biol Res. 1993. PMID: 8115404 Review. No abstract available.

8

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.

9

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.

Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, Jabs EW. Reid CS, et al. Am J Med Genet. 1993 Oct 1;47(5):637-9. doi: 10.1002/ajmg.1320470511. Am J Med Genet. 1993. PMID: 8266989

10

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ. Ahmad NN, et al. Am J Hum Genet. 1993 Jan;52(1):39-45. Am J Hum Genet. 1993. PMID: 8434604 Free PMC article. Review.

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