Donnenfeld AE - Search Results

1

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS. Donnenfeld AE, et al. Am J Med Genet. 1989 Apr;32(4):461-7. doi: 10.1002/ajmg.1320320405. Am J Med Genet. 1989. PMID: 2773986

2

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

Donnenfeld AE, Graham JM Jr, Packer RJ, Aquino R, Berg SZ, Emanuel BS. Donnenfeld AE, et al. Am J Med Genet. 1990 Oct;37(2):182-6. doi: 10.1002/ajmg.1320370205. Am J Med Genet. 1990. PMID: 2248284

3

De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

Donnenfeld AE, Zackai EH, McDonald DM, Aquino R, Emanuel BS. Donnenfeld AE, et al. J Med Genet. 1987 Jul;24(7):436-9. doi: 10.1136/jmg.24.7.436. J Med Genet. 1987. PMID: 3612721 Free PMC article.

4

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

Donnenfeld AE, Conard KA, Roberts NS, Borns PF, Zackai EH. Donnenfeld AE, et al. Am J Med Genet. 1987 May;27(1):159-73. doi: 10.1002/ajmg.1320270117. Am J Med Genet. 1987. PMID: 3605194

5

Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.

Reeser SL, Donnenfeld AE, Miller RC, Sellinger BS, Emanuel BS, Driscoll DA. Reeser SL, et al. Among authors: donnenfeld ae. Prenat Diagn. 1994 Nov;14(11):1029-34. doi: 10.1002/pd.1970141104. Prenat Diagn. 1994. PMID: 7877950

6

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.

Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. Venditti CP, et al. Am J Med Genet A. 2004 Jan 30;124A(3):274-9. doi: 10.1002/ajmg.a.20430. Am J Med Genet A. 2004. PMID: 14708100

7

Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.

Donnenfeld AE, Schrager DS, Corson SL. Donnenfeld AE, et al. Am J Med Genet. 1992 Nov 1;44(4):482-4. doi: 10.1002/ajmg.1320440419. Am J Med Genet. 1992. PMID: 1442892

8

Significance of mosaic isochromosome 20q on amniocentesis.

Donnenfeld AE, Kershner MA. Donnenfeld AE, et al. Am J Med Genet. 1993 Dec 1;47(8):1196-7. doi: 10.1002/ajmg.1320470813. Am J Med Genet. 1993. PMID: 8291555

9

Dandy-Walker malformation in the Meckel syndrome.

Summers MC, Donnenfeld AE. Summers MC, et al. Among authors: donnenfeld ae. Am J Med Genet. 1995 Jan 2;55(1):57-61. doi: 10.1002/ajmg.1320550116. Am J Med Genet. 1995. PMID: 7702098

10

Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome.

Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ. Donnenfeld AE, et al. Am J Med Genet. 1991 Jun 15;39(4):461-5. doi: 10.1002/ajmg.1320390418. Am J Med Genet. 1991. PMID: 1877625

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