Published in Genomics on April 01, 1989
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Large differences in cost of illness and wellbeing between patients with fibromyalgia, chronic low back pain, or ankylosing spondylitis. Ann Rheum Dis (2004) 1.49
A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. Proc Natl Acad Sci U S A (1989) 1.48
TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency. Clin Chem (1999) 1.48
Identification of CGA as a novel estrogen receptor-responsive gene in breast cancer: an outstanding candidate marker to predict the response to endocrine therapy. Cancer Res (2001) 1.45
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Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem (1999) 1.44
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet (1999) 1.44
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Long-lasting catch-up growth under bio-methionyl growth hormone treatment in an infant with isolated growth hormone deficiency type 1A. Acta Paediatr Scand (1991) 1.38
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Slow progression rate of fibrosis in hepatitis C virus patients with persistently normal alanine transaminase activity. Hepatology (1998) 1.37
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Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci U S A (1989) 1.37
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Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem (1998) 1.36
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med (1983) 1.35
CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet (1997) 1.35
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet (1996) 1.31
Quantification of estrogen receptor alpha and beta expression in sporadic breast cancer. Oncogene (2001) 1.29
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest (1992) 1.29
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet (2009) 1.28
Characterization of human villous and extravillous trophoblasts isolated from first trimester placenta. Lab Invest (2001) 1.27
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylase. Proc Natl Acad Sci U S A (1984) 1.27
Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis (2010) 1.26
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet (2000) 1.26
Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen. Thromb Haemost (2001) 1.25
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet (1993) 1.25
Evidence for the polyclonal nature of focal nodular hyperplasia of the liver by the study of X-chromosome inactivation. Hepatology (1997) 1.24
Development of two real-time quantitative TaqMan PCR assays to detect circulating Aspergillus fumigatus DNA in serum. J Microbiol Methods (2001) 1.24
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Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem (2000) 1.23
Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc Natl Acad Sci U S A (1984) 1.22
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21