Published in Am J Hum Genet on May 01, 1987
Familial cutaneous malignant melanoma: autosomal dominant trait possibly linked to the Rh locus. Proc Natl Acad Sci U S A (1983) 1.72
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. Am J Hum Genet (1986) 1.39
Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet (1987) 1.55
The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives. Am J Med Genet (1989) 1.48
The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol (1991) 1.24
Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev (1994) 1.20
Reduced genetic load revealed by slow inbreeding in Drosophila melanogaster. Genetics (1995) 1.16
Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A (1993) 1.14
The use of map functions in multipoint mapping. Am J Hum Genet (1987) 1.13
Common genetic variation in the melatonin receptor 1B gene (MTNR1B) is associated with decreased early-phase insulin response. Diabetologia (2009) 1.13
TNFSF15 polymorphisms are associated with susceptibility to inflammatory bowel disease in a new European cohort. Am J Gastroenterol (2009) 1.10
Structural analysis and evaluation of the aldosterone synthase gene in hypertension. Hypertension (1998) 1.02
The efficiency of genetic analysis of DNA from aged siblings to detect chromosomal regions implicated in longevity. Mech Ageing Dev (2000) 1.00
Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. Mol Endocrinol (2000) 0.98
Genetic analysis of the human type-1 angiotensin II receptor. Mol Endocrinol (1992) 0.94
Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol. J Clin Endocrinol Metab (1998) 0.89
The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme. Nat Struct Biol (1997) 0.85
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia. J Clin Endocrinol Metab (1999) 0.85
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab (1998) 0.83
Adult onset Still's disease: response to Enbrel. Ann Rheum Dis (2002) 0.82
Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 0.81
Alternatively spliced human type 1 angiotensin II receptor mRNAs are translated at different efficiencies and encode two receptor isoforms. Mol Endocrinol (1995) 0.81
CYP11B2 gene polymorphisms in idiopathic hyperaldosteronism. Hypertension (2000) 0.79
Structural analysis and evaluation of the 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) gene in human essential hypertension. J Hypertens (1998) 0.78
Disorders of steroid 11 beta-hydroxylase isozymes. Trends Endocrinol Metab (1992) 0.77
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. Hypertension (1999) 0.77
RIP2 polymorphisms in inflammatory bowel diseases. Inflamm Bowel Dis (2011) 0.76
The use of botulinum toxin-A in the treatment of patients with fibromyalgia. J Rheumatol (2001) 0.75
Increased maternal Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) associated with older age at diagnosis of Type 1 diabetes in offspring. Diabet Med (2010) 0.75
Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymes. J Steroid Biochem Mol Biol (1992) 0.75
[A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. Arch Mal Coeur Vaiss (1997) 0.75
[Hyperaldosteronism sensitive to dexamethasone with adrenal adenoma. Clinical, biological and genetic study]. Presse Med (1995) 0.75
Angiotensin-converting enzyme and angiotensinogen gene polymorphisms are non-randomly distributed in oral contraceptive-induced hypertension. J Hypertens (2001) 0.75