DAVID NELSON to Pedigree
This is a "connection" page, showing publications DAVID NELSON has written about Pedigree.
Connection Strength
0.381
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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet. 2006 Jan; 78(1):125-9.
Score: 0.048
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Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics. 2002 Oct; 80(4):423-32.
Score: 0.039
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Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet. 1996 Nov; 5(11):1777-83.
Score: 0.026
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Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am J Med Genet. 1996 Jul 12; 64(1):220-5.
Score: 0.025
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Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum Mol Genet. 1996 Mar; 5(3):319-30.
Score: 0.025
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De novo mutation in three families with multigenerational incontinentia pigmenti. Am J Hum Genet. 1994 Dec; 55(6):1279-81.
Score: 0.023
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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet. 1994 Nov; 8(3):229-35.
Score: 0.023
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Frequency and stability of the fragile X premutation. Hum Mol Genet. 1994 Mar; 3(3):393-8.
Score: 0.021
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Triplet repeat mutations in human disease. Science. 1992 May 08; 256(5058):784-9.
Score: 0.019
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AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug; 14(8):729-36.
Score: 0.019
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Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991 Aug 23; 66(4):817-22.
Score: 0.018
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High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet. 1994 Jul 15; 51(4):298-308.
Score: 0.011
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun; 74(6):1216-24.
Score: 0.011
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Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site. Am J Med Genet A. 2003 Apr 01; 118A(1):25-8.
Score: 0.010
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Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20; 67(6):1047-58.
Score: 0.009
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Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001 Mar; 68(3):765-71.
Score: 0.009
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct; 26(2):191-4.
Score: 0.008
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Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet. 1995 Nov; 32(11):887-90.
Score: 0.006
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994 Oct; 3(10):1823-7.
Score: 0.006
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Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet. 1994 Jul 15; 51(4):522-6.
Score: 0.006
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Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk. J Med Genet. 1993 Mar; 30(3):193-7.
Score: 0.005
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Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. J Med Genet. 1992 Nov; 29(11):802-6.
Score: 0.005
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DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992 Sep; 1(6):397-400.
Score: 0.005
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Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1; 43(1-2):192-6.
Score: 0.005