Snow K - 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: snow k. Am J Hum Genet. 1995 May;56(5):1147-55. Am J Hum Genet. 1995. PMID: 7726171 Free PMC article.

2

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN. Snow K, et al. Hum Mol Genet. 1994 Sep;3(9):1543-51. doi: 10.1093/hmg/3.9.1543. Hum Mol Genet. 1994. PMID: 7833909

3

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: snow k. Am J Med Genet. 1994 Jul 15;51(4):339-45. doi: 10.1002/ajmg.1320510409. Am J Med Genet. 1994. PMID: 7942996

4

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Snow K, et al. Am J Hum Genet. 1993 Dec;53(6):1217-28. Am J Hum Genet. 1993. PMID: 7902673 Free PMC article.

5

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MM, Snow K, Thibodeau SN, et al. Hagerman RJ, et al. Among authors: snow k. Am J Med Genet. 1994 Jul 15;51(4):298-308. doi: 10.1002/ajmg.1320510404. Am J Med Genet. 1994. PMID: 7942991

6

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

7

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.

Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman GL. Kambouris M, et al. Among authors: snow k. Am J Med Genet. 1996 Aug 9;64(2):404-7. doi: 10.1002/(SICI)1096-8628(19960809)64:2<404::AID-AJMG34>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844092

8

Molecular-clinical correlations in children and adults with fragile X syndrome.

Staley LW, Hull CE, Mazzocco MM, Thibodeau SN, Snow K, Wilson VL, Taylor A, McGavran L, Weiner D, Riddle J, et al. Staley LW, et al. Among authors: snow k. Am J Dis Child. 1993 Jul;147(7):723-6. doi: 10.1001/archpedi.1993.02160310025011. Am J Dis Child. 1993. PMID: 8322740

9

H63D is an haemochromatosis associated allele.

Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC. Fairbanks VF, et al. Among authors: snow k. Gut. 1998 Sep;43(3):441-2. doi: 10.1136/gut.43.3.441. Gut. 1998. PMID: 9863493 Free PMC article. No abstract available.

10

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9.

Snow K, Doud L, Hagerman R, Hull C, Hirst MC, Davies KE, Thibodeau SL. Snow K, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):244-54. doi: 10.1002/ajmg.1320430139. Am J Med Genet. 1992. PMID: 1605198

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