Robert Wilson to Mutation
This is a "connection" page, showing publications Robert Wilson has written about Mutation.
Connection Strength
1.095
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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab. 2007 Apr; 90(4):414-21.
Score: 0.202
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In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 2004 May; 89(5):2024-7.
Score: 0.167
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Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab. 1999 Dec; 84(12):4735-8.
Score: 0.123
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Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. J Clin Endocrinol Metab. 1999 Jan; 84(1):378-81.
Score: 0.115
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A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. Ann N Y Acad Sci. 2016 07; 1376(1):65-71.
Score: 0.098
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CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009; 1(3):116-28.
Score: 0.058
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Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency. J Clin Endocrinol Metab. 2006 Oct; 91(10):4179-82.
Score: 0.049
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Monogenic low renin hypertension. Trends Endocrinol Metab. 2005 Apr; 16(3):92-7.
Score: 0.044
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Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):133-42.
Score: 0.044
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Apparent mineralocorticoid excess. Trends Endocrinol Metab. 2001 Apr; 12(3):104-11.
Score: 0.034
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Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line. Sci Rep. 2021 03 11; 11(1):5690.
Score: 0.033
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Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci U S A. 1999 Oct 26; 96(22):12790-7.
Score: 0.030
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Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. J Steroid Biochem Mol Biol. 2017 01; 165(Pt A):51-56.
Score: 0.024
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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A. 2013 Feb 12; 110(7):2611-6.
Score: 0.019
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Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17?HSD-3 defect confirmed by molecular analysis. Gynecol Endocrinol. 2011 Nov; 27(11):890-4.
Score: 0.017
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Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). J Mol Diagn. 2005 May; 7(2):236-46.
Score: 0.011
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The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene. J Pediatr Endocrinol Metab. 2005 Feb; 18(2):143-53.
Score: 0.011
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Nonclassic 21-hydroxylase deficiency in Croatia. J Pediatr Endocrinol Metab. 2004 Feb; 17(2):157-64.
Score: 0.010
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Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol. 1999 Apr-Jun; 69(1-6):19-29.
Score: 0.007