Published in Genomics on May 01, 1992
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Radioimmunoassay of human serum thyrotrophin. Br Med J (1971) 4.59
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Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
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A frame-shift mutation in the cystic fibrosis gene. Nature (1990) 2.23
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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet (1992) 1.94
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Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
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Novel alleles of the chemokine-receptor gene CCR5. Am J Hum Genet (1997) 1.39
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The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
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Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
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Cloning and organization of the abc and mdl genes of Escherichia coli: relationship to eukaryotic multidrug resistance. Gene (1993) 1.12
Human immunoglobulin D: genomic sequence of the delta heavy chain. Science (1985) 1.12
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res (1996) 1.12
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10
Typing of HLA-DQA1 and DQB1 using DNA single-strand conformation polymorphism. Hum Immunol (1992) 1.09
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
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Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database. Mamm Genome (1995) 1.05
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Approaches to localizing disease genes as applied to cystic fibrosis. Nucleic Acids Res (1990) 0.98
Amniocentesis for prenatal genetic studies. Obstet Gynecol (1972) 0.98
Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat (1994) 0.98
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. Am J Obstet Gynecol (1985) 0.97
The human immunoglobulin C mu-C delta locus: complete nucleotide sequence and structural analysis. Int Immunol (1989) 0.97
A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death. Genomics (1991) 0.96
Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8. Am J Hum Genet (1989) 0.95
The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95
Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 0.95
Control of trichomoniasis in a large herd of beef cattle. Aust Vet J (1974) 0.94
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. Lancet (1969) 0.94
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
Helpful hints for the detection of single-stranded conformation polymorphisms. Biotechniques (1991) 0.93
The prenatal diagnosis of inborn errors of metabolism. Annu Rev Med (1972) 0.92
Deregulation of screening for alpha-fetoprotein in pregnancy. N Engl J Med (1984) 0.92
Hazards of amniocentesis. Lancet (1979) 0.92
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. Obstet Gynecol (1976) 0.92
Characterization of a human homolog (OVOL1) of the Drosophila ovo gene, which maps to chromosome 11q13. Mamm Genome (1997) 0.92
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy. Hum Genet (1990) 0.91
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The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
Polymorphisms of the human IFNG gene noncoding regions. Immunogenetics (2000) 0.90
Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Diagnostic limitations of metachromasia. N Engl J Med (1969) 0.90
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod (1995) 0.88
Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet (1989) 0.88
Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet (1975) 0.88
p53 functional loss in a colon cancer cell line with two missense mutations (218leu and 248trp) on separate alleles. Cancer Lett (1996) 0.88