Eichler EE - Search Results

1

Personal journeys to and in human genetics and dysmorphology.

Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: eichler ee. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159

2

Evolution of the cryptic FMR1 CGG repeat.

Eichler EE, Kunst CB, Lugenbeel KA, Ryder OA, Davison D, Warren ST, Nelson DL. Eichler EE, et al. Nat Genet. 1995 Nov;11(3):301-8. doi: 10.1038/ng1195-301. Nat Genet. 1995. PMID: 7581454

3

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase.

Chong SS, Eichler EE, Nelson DL, Hughes MR. Chong SS, et al. Among authors: eichler ee. Am J Med Genet. 1994 Jul 15;51(4):522-6. doi: 10.1002/ajmg.1320510447. Am J Med Genet. 1994. PMID: 7943034

4

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. Nat Genet. 1994 Sep;8(1):88-94. doi: 10.1038/ng0994-88. Nat Genet. 1994. PMID: 7987398

5

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

Ashley CT, Sutcliffe JS, Kunst CB, Leiner HA, Eichler EE, Nelson DL, Warren ST. Ashley CT, et al. Among authors: eichler ee. Nat Genet. 1993 Jul;4(3):244-51. doi: 10.1038/ng0793-244. Nat Genet. 1993. PMID: 8358432

6

Fine structure of the human FMR1 gene.

Eichler EE, Richards S, Gibbs RA, Nelson DL. Eichler EE, et al. Hum Mol Genet. 1993 Aug;2(8):1147-53. doi: 10.1093/hmg/2.8.1147. Hum Mol Genet. 1993. PMID: 8401496

7

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL. Eichler EE, et al. Hum Mol Genet. 1995 Dec;4(12):2199-208. doi: 10.1093/hmg/4.12.2199. Hum Mol Genet. 1995. PMID: 8634688

8

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. Am J Hum Genet. 1996 Mar;58(3):513-22. Am J Hum Genet. 1996. PMID: 8644711 Free PMC article.

9

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations.

Eichler EE, Nelson DL. Eichler EE, et al. Am J Med Genet. 1996 Jul 12;64(1):220-5. doi: 10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8826480

10

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Eichler EE, et al. Hum Mol Genet. 1996 Mar;5(3):319-30. doi: 10.1093/hmg/5.3.319. Hum Mol Genet. 1996. PMID: 8852655

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

603 results

Search Page