JOHN BELMONT to DNA Mutational Analysis
This is a "connection" page, showing publications JOHN BELMONT has written about DNA Mutational Analysis.
Connection Strength
0.324
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FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 Feb; 152A(2):413-6.
Score: 0.073
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Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008; 59:113-29.
Score: 0.063
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.055
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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat. 2002 Oct; 20(4):298-304.
Score: 0.044
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A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest. 1996 Jan 01; 97(1):196-201.
Score: 0.027
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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008 Jul; 83(1):18-29.
Score: 0.016
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Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov; 81(5):987-94.
Score: 0.015
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
Score: 0.012
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Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22; 111(1):27-30.
Score: 0.011
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998; 11(2):121-6.
Score: 0.008