Magenis RE - Search Results

1

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Nickel RE, et al. Among authors: magenis re. Am J Med Genet. 1994 Oct 1;52(4):445-9. doi: 10.1002/ajmg.1320520410. Am J Med Genet. 1994. PMID: 7747757

2

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.

White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE. White DM, et al. Among authors: magenis re. Am J Med Genet. 1995 Jul 17;57(4):588-97. doi: 10.1002/ajmg.1320570415. Am J Med Genet. 1995. PMID: 7573135

3

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Nickel RE, et al. Among authors: magenis re. Eur J Pediatr Surg. 1993 Dec;3 Suppl 1:27-8. Eur J Pediatr Surg. 1993. PMID: 8130147 No abstract available.

4

Neural tube defects and deletions of 22q11.

Nickel RE, Magenis RE. Nickel RE, et al. Among authors: magenis re. Am J Med Genet. 1996 Dec 2;66(1):25-7. doi: 10.1002/(SICI)1096-8628(19961202)66:1<25::AID-AJMG6>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8957506

5

Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.

Warden CR, Pillers DA, Rice MJ, Wildes J, Livingston JS, Clark BA, Gilhooly JT, Magenis RE. Warden CR, et al. Among authors: magenis re. Am J Med Genet. 2001 Jun 15;101(2):100-5. doi: 10.1002/ajmg.1337. Am J Med Genet. 2001. PMID: 11391651

6

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J, et al. Magenis RE, et al. Am J Med Genet. 1990 Mar;35(3):333-49. doi: 10.1002/ajmg.1320350307. Am J Med Genet. 1990. PMID: 2309780

7

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR. Pillers DA, et al. Among authors: magenis re. Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106. Am J Med Genet. 1990. PMID: 2159212

8

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.

Boyd LJ, Livingston JS, Brown MG, Lawce HJ, Gilhooly JT, Wildin RS, Linck LM, Magenis RE, Pillers DA. Boyd LJ, et al. Among authors: magenis re. Am J Med Genet A. 2005 Nov 1;138(4):355-60. doi: 10.1002/ajmg.a.30895. Am J Med Genet A. 2005. PMID: 16177985

9

Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.

Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R. Magenis RE, et al. Am J Med Genet. 1988 Jan;29(1):9-19. doi: 10.1002/ajmg.1320290103. Am J Med Genet. 1988. PMID: 3344779

10

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW. Quan F, et al. Among authors: magenis re. Am J Hum Genet. 1995 May;56(5):1042-51. Am J Hum Genet. 1995. PMID: 7726157 Free PMC article.

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