McDonald-McGinn D - Search Results

1

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Ge R, Ching CRK, Bassett AS, Kushan L, Antshel KM, van Amelsvoort T, Bakker G, Butcher NJ, Campbell LE, Chow EWC, Craig M, Crossley NA, Cunningham A, Daly E, Doherty JL, Durdle CA, Emanuel BS, Fiksinski A, Forsyth JK, Fremont W, Goodrich-Hunsaker NJ, Gudbrandsen M, Gur RE, Jalbrzikowski M, Kates WR, Lin A, Linden DEJ, McCabe KL, McDonald-McGinn D, Moss H, Murphy DG, Murphy KC, Owen MJ, Villalon-Reina JE, Repetto GM, Roalf DR, Ruparel K, Schmitt JE, Schuite-Koops S, Angkustsiri K, Sun D, Vajdi A, van den Bree M, Vorstman J, Thompson PM, Vila-Rodriguez F, Bearden CE. Ge R, et al. Hum Brain Mapp. 2024 Jan;45(1):e26553. doi: 10.1002/hbm.26553. Hum Brain Mapp. 2024. PMID: 38224541 Free PMC article.

2

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

Ahmad NN, McDonald-McGinn DM, Dixon P, Zackai EH, Tasman WS. Ahmad NN, et al. J Med Genet. 1996 Aug;33(8):678-81. doi: 10.1136/jmg.33.8.678. J Med Genet. 1996. PMID: 8863161 Free PMC article.

3

Paternal transmission of congenital myotonic dystrophy.

Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Bergoffen J, et al. J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518. J Med Genet. 1994. PMID: 7966187 Free PMC article.

4

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

5

Ankyloblepharon filiforme adnatum in trisomy 18.

Bacal DA, Nelson LB, Zackai EH, Lavrich JB, Kousseff BG, McDonald-McGinn D. Bacal DA, et al. J Pediatr Ophthalmol Strabismus. 1993 Sep-Oct;30(5):337-9. doi: 10.3928/0191-3913-19930901-18. J Pediatr Ophthalmol Strabismus. 1993. PMID: 8254454

6

Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q.

Schnur RE, Herzberg AJ, Spinner N, Kant JA, Magnusson M, McDonald-McGinn D, Rehberg K, Honig PJ, Zackai EH. Schnur RE, et al. J Am Acad Dermatol. 1993 Feb;28(2 Pt 2):364-70. J Am Acad Dermatol. 1993. PMID: 8436660 Review.

7

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH. Ramos FJ, et al. Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614. Am J Med Genet. 1992. PMID: 1481848

8

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.

Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Weiss BJ, et al. Ann Neurol. 1991 Sep;30(3):419-23. doi: 10.1002/ana.410300316. Ann Neurol. 1991. PMID: 1719916

9

Interstitial deletion of 4(q21q25) in a liveborn male.

Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Rose NC, et al. Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115. Am J Med Genet. 1991. PMID: 1887853 Review.

10

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH. Gutmann DH, et al. Am J Med Genet. 1991 May 1;39(2):167-9. doi: 10.1002/ajmg.1320390210. Am J Med Genet. 1991. PMID: 2063919

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