Nelson DL - Search Results

1

The fragile X premutation in carriers and its effect on mutation size in offspring.

Fisch GS, Snow K, Thibodeau SN, Chalifaux M, Holden JJ, Nelson DL, Howard-Peebles PN, Maddalena A. Fisch GS, et al. Among authors: nelson dl. Am J Hum Genet. 1995 May;56(5):1147-55. Am J Hum Genet. 1995. PMID: 7726171 Free PMC article.

2

Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing.

Fisch GS, Nelson DL, Snow K, Thibodeau SN, Chalifoux M, Holden JJ. Fisch GS, et al. Among authors: nelson dl. Am J Med Genet. 1994 Jul 15;51(4):339-45. doi: 10.1002/ajmg.1320510409. Am J Med Genet. 1994. PMID: 7942996

3

Length of uninterrupted CGG repeats determines instability in the FMR1 gene.

Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL. Eichler EE, et al. Among authors: nelson dl. Nat Genet. 1994 Sep;8(1):88-94. doi: 10.1038/ng0994-88. Nat Genet. 1994. PMID: 7987398

4

FMR1 in global populations.

Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden JJ, Torroni A, Nelson DL, Warren ST. Kunst CB, et al. Among authors: nelson dl. Am J Hum Genet. 1996 Mar;58(3):513-22. Am J Hum Genet. 1996. PMID: 8644711 Free PMC article.

5

9th international workshop on fragile X syndrome and X-linked mental retardation.

Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.

6

Frequency and stability of the fragile X premutation.

Reiss AL, Kazazian HH Jr, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL. Reiss AL, et al. Among authors: nelson dl. Hum Mol Genet. 1994 Mar;3(3):393-8. doi: 10.1093/hmg/3.3.393. Hum Mol Genet. 1994. PMID: 8012350

7

High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.

Hornstra IK, Nelson DL, Warren ST, Yang TP. Hornstra IK, et al. Among authors: nelson dl. Hum Mol Genet. 1993 Oct;2(10):1659-65. doi: 10.1093/hmg/2.10.1659. Hum Mol Genet. 1993. PMID: 8268919

8

Intragenic probe used for diagnostics in fragile X families.

Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Verkerk AJ, et al. Among authors: nelson dl. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6. doi: 10.1002/ajmg.1320430132. Am J Med Genet. 1992. PMID: 1605192

9

DNA methylation represses FMR-1 transcription in fragile X syndrome.

Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. Sutcliffe JS, et al. Among authors: nelson dl. Hum Mol Genet. 1992 Sep;1(6):397-400. doi: 10.1093/hmg/1.6.397. Hum Mol Genet. 1992. PMID: 1301913

10

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

van den Ouweland AM, Deelen WH, Kunst CB, Uzielli ML, Nelson DL, Warren ST, Oostra BA, Halley DJ. van den Ouweland AM, et al. Among authors: nelson dl. Hum Mol Genet. 1994 Oct;3(10):1823-7. doi: 10.1093/hmg/3.10.1823. Hum Mol Genet. 1994. PMID: 7849707

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