Magenis RE - Search Results

1

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR. Roa BB, et al. Among authors: magenis re. Hum Genet. 1996 May;97(5):642-9. Hum Genet. 1996. PMID: 8655146

2

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: magenis re. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

3

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. Bi W, et al. Among authors: magenis re. Am J Med Genet A. 2006 Nov 15;140(22):2454-63. doi: 10.1002/ajmg.a.31510. Am J Med Genet A. 2006. PMID: 17041942

4

The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.

Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE. Toth-Fejel S, et al. Among authors: magenis re. Am J Hum Genet. 1996 May;58(5):1008-16. Am J Hum Genet. 1996. PMID: 8651261 Free PMC article.

5

On the origin of chromosome anomaly.

Magenis RE. Magenis RE. Am J Hum Genet. 1988 Apr;42(4):529-33. Am J Hum Genet. 1988. PMID: 2964777 Free PMC article. No abstract available.

6

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

Knoll JH, Nicholls RD, Magenis RE, Glatt K, Graham JM Jr, Kaplan L, Lalande M. Knoll JH, et al. Among authors: magenis re. Am J Hum Genet. 1990 Jul;47(1):149-54. Am J Hum Genet. 1990. PMID: 1971993 Free PMC article.

7

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Elsea SH, et al. Among authors: magenis re. Cytogenet Cell Genet. 1997;79(3-4):276-81. doi: 10.1159/000134742. Cytogenet Cell Genet. 1997. PMID: 9605871

8

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH. Williams SR, et al. Among authors: magenis re. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011. Am J Hum Genet. 2010. PMID: 20691407 Free PMC article.

9

Parental trisomy 21 mosaicism.

Harris DJ, Begleiter ML, Chamberlin J, Hankins L, Magenis RE. Harris DJ, et al. Among authors: magenis re. Am J Hum Genet. 1982 Jan;34(1):125-33. Am J Hum Genet. 1982. PMID: 6211090 Free PMC article.

10

Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16.

Natt E, Magenis RE, Zimmer J, Mansouri A, Scherer G. Natt E, et al. Among authors: magenis re. Cytogenet Cell Genet. 1989;50(2-3):145-8. doi: 10.1159/000132745. Cytogenet Cell Genet. 1989. PMID: 2789125

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