DAVID NELSON to Mutation
This is a "connection" page, showing publications DAVID NELSON has written about Mutation.
Connection Strength
0.627
-
Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders. Proc Natl Acad Sci U S A. 2021 08 24; 118(34).
Score: 0.191
-
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001 Sep 15; 10(19):2171-9.
Score: 0.048
-
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 02 15; 10(1):797.
Score: 0.040
-
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: 0.034
-
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: 0.033
-
Whole-Genome Resequencing Reveals Extensive Natural Variation in the Model Green Alga Chlamydomonas reinhardtii. Plant Cell. 2015 Sep; 27(9):2353-69.
Score: 0.032
-
De novo mutation in three families with multigenerational incontinentia pigmenti. Am J Hum Genet. 1994 Dec; 55(6):1279-81.
Score: 0.030
-
Frequency and stability of the fragile X premutation. Hum Mol Genet. 1994 Mar; 3(3):393-8.
Score: 0.028
-
Advances in molecular analysis of fragile X syndrome. JAMA. 1994 Feb 16; 271(7):536-42.
Score: 0.028
-
Triplet repeat mutations in human disease. Science. 1992 May 08; 256(5058):784-9.
Score: 0.025
-
The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism. Genomics. 2002 Aug; 80(2):185-94.
Score: 0.013
-
Alternative splicing in the murine and human FXR1 genes. Genomics. 1999 Jul 15; 59(2):193-202.
Score: 0.010
-
A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. Proc Natl Acad Sci U S A. 1998 Sep 29; 95(20):11751-6.
Score: 0.010
-
X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997 Nov; 17(3):305-8.
Score: 0.009
-
How Obstacles Perturb Population Fronts and Alter Their Genetic Structure. PLoS Comput Biol. 2015 Dec; 11(12):e1004615.
Score: 0.008
-
The fragile X syndromes. Semin Cell Biol. 1995 Feb; 6(1):5-11.
Score: 0.008
-
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994 Oct; 3(10):1823-7.
Score: 0.007
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet. 1994 Sep; 8(1):88-94.
Score: 0.007
-
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet. 1994 Jul 15; 51(4):339-45.
Score: 0.007
-
Genetic drift opposes mutualism during spatial population expansion. Proc Natl Acad Sci U S A. 2014 Jan 21; 111(3):1037-42.
Score: 0.007
-
Trinucleotide repeat instability: when and where? Nat Genet. 1993 Jun; 4(2):107-8.
Score: 0.007
-
Chemical screen reveals small molecules suppressing fragile X premutation rCGG repeat-mediated neurodegeneration in Drosophila. Hum Mol Genet. 2012 May 01; 21(9):2068-75.
Score: 0.006
-
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. Neurobiol Dis. 2009 Aug; 35(2):241-50.
Score: 0.005
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res. 2007 Jan 15; 313(2):244-53.
Score: 0.004
-
Defective Jak-Stat activation in hepatoma cells is associated with hepatitis C viral IFN-alpha resistance. J Interferon Cytokine Res. 2005 Sep; 25(9):528-39.
Score: 0.004
-
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: 0.004
-
Stabilized beta-catenin promotes hepatocyte proliferation and inhibits TNFalpha-induced apoptosis. Lab Invest. 2004 Mar; 84(3):332-41.
Score: 0.004
-
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron. 2002 Jun 13; 34(6):961-72.
Score: 0.003
-
Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.
Score: 0.003
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000 May 25; 405(6785):466-72.
Score: 0.003
-
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Am J Med Genet. 2000 Mar 20; 91(3):241-4.
Score: 0.003
-
The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet. 1995 May; 56(5):1147-55.
Score: 0.002
-
Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21.
Score: 0.002
-
Genome analysis and the human X chromosome. Science. 1992 Oct 02; 258(5079):103-9.
Score: 0.002
-
PCR amplification and analysis of yeast artificial chromosomes. Genomics. 1992 Aug; 13(4):1303-6.
Score: 0.002