Published in Hum Genet on January 01, 1984
In vitro secretion of human chorionic gonadotrophin by bladder tumour cells. Br J Cancer (1987) 1.08
Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI. Proc Natl Acad Sci U S A (1986) 0.91
Expression and regulation of the pituitary- and placenta-specific human glycoprotein hormone alpha-subunit gene is restricted to the pituitary in transgenic mice. Mol Cell Biol (1988) 0.86
Human pregnancy-specific beta 1 glycoprotein is encoded by multiple genes localized on two chromosomes. Am J Hum Genet (1988) 0.80
Do placental genes affect maternal breast cancer? Association between offspring's CGB5 and CSH1 gene variants and maternal breast cancer risk. Cancer Res (2008) 0.77
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A (1984) 48.41
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 12.74
HIV-specific cytotoxic T lymphocytes in seropositive individuals. Nature (1987) 7.88
Transcription of the dystrophin gene in human muscle and non-muscle tissue. Nature (1988) 7.00
Isolation of HTLV-III from cerebrospinal fluid and neural tissues of patients with neurologic syndromes related to the acquired immunodeficiency syndrome. N Engl J Med (1985) 6.54
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
HTLV-III in the semen and blood of a healthy homosexual man. Science (1984) 4.53
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet (2000) 4.48
Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease. Lancet (1996) 4.33
Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci U S A (1989) 4.21
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature (1991) 3.74
Use of evolutionary limitations of HIV-1 multidrug resistance to optimize therapy. Nature (1993) 3.73
Evolution and adaptation of H5N1 influenza virus in avian and human hosts in Indonesia and Vietnam. Virology (2006) 3.59
Maximizing sensitivity and specificity of PCR by pre-amplification heating. Nucleic Acids Res (1991) 3.56
Inhibition of human T-cell lymphotropic virus type III in vitro by phosphonoformate. Lancet (1985) 3.50
Pathogenesis of infection with human immunodeficiency virus. N Engl J Med (1987) 3.45
Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet (1997) 3.26
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell (1991) 3.19
Second conserved domain of gp120 is important for HIV infectivity and antibody neutralization. Science (1988) 3.08
Recombinant human interferon alfa-A suppresses HTLV-III replication in vitro. Lancet (1985) 3.03
On some genetic aspects of phage lambda resistance in E. coli K12. Genetics (1972) 2.99
Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature (1991) 2.87
The translational regulator CPEB1 provides a link between dcp1 bodies and stress granules. J Cell Sci (2005) 2.86
Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum Mol Genet (2001) 2.75
Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature (1993) 2.73
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Automatic 3-D segmentation of internal structures of the head in MR images using a combination of similarity and free-form transformations: Part I, Methodology and validation on normal subjects. IEEE Trans Med Imaging (1999) 2.57
Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet (1993) 2.56
Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res (1989) 2.54
Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet (1998) 2.53
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 2.38
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics. Hum Genet (1990) 2.33
Tuberculosis treatment programmes in low-income countries. Lancet (1994) 2.31
Resistance to 2',3'-dideoxycytidine conferred by a mutation in codon 65 of the human immunodeficiency virus type 1 reverse transcriptase. Antimicrob Agents Chemother (1994) 2.24
Report of the committee on the genetic constitution of chromosome 11. Cytogenet Cell Genet (1989) 2.21
Regulation of pim and myb mRNA accumulation by interleukin 2 and interleukin 3 in murine hematopoietic cell lines. J Biol Chem (1988) 2.19
Report of the Committee on the Genetic Constitution of Chromosomes 20, 21, and 22. Cytogenet Cell Genet (1985) 2.18
Maternal serum free beta hCG screening: results of studies including 480 cases of Down syndrome. Prenat Diagn (1994) 2.17
Targets for global tuberculosis control. Int J Tuberc Lung Dis (2006) 2.16
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11
Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem (1985) 2.09
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet (2001) 2.08
Maternal inheritance of atopic IgE responsiveness on chromosome 11q. Lancet (1992) 2.05
Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers. Nucleic Acids Res (1989) 2.04
International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis. Br J Haematol (1977) 2.01
Natural variation of poliovirus neutralization epitopes. Infect Immun (1983) 2.01
Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs. Biochem Biophys Res Commun (1991) 2.01
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet (1999) 2.00
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet (1986) 1.92
Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics (1990) 1.90
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet (1993) 1.86
Enzymatic repair of DNA, 1. Purification of two enzymes involved in the excision of thymine dimers from ultraviolet-irradiated DNA. Proc Natl Acad Sci U S A (1969) 1.85
Nosocomial Legionnaires' disease caused by aerosolized tap water from respiratory devices. J Infect Dis (1982) 1.81
Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation (1999) 1.78
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat (2000) 1.74
International Committee for Standardization in Haematology: recommended screening test for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Br J Haematol (1979) 1.71
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature (1992) 1.70
Systematic screening for active tuberculosis: rationale, definitions and key considerations. Int J Tuberc Lung Dis (2013) 1.70
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet (2003) 1.68
Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Hum Genet (1992) 1.68
A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn (1984) 1.67
Reinfection with rubella in pregnant women. Lancet (1971) 1.67
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord (1991) 1.65
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest (1997) 1.64
The importance of quality control of sputum smear microscopy: the effect of reading errors on treatment decisions and outcomes. Int J Tuberc Lung Dis (1999) 1.63
In vivo kinetics of mRNA splicing and transport in mammalian cells. Mol Cell Biol (2002) 1.63
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet (2000) 1.62
Detection by monoclonal antibodies of an antigenic determinant critical for poliovirus neutralization present on VP1 and on heat-inactivated virions. Virology (1983) 1.62
Connexin 26 gene linked to a dominant deafness. Nature (1998) 1.62
The isolation of a human Ig V lambda gene from a recombinant library of chromosome 22 and estimation of its copy number. Nucleic Acids Res (1984) 1.61
Galactokinase mutants of Chinese hamster somatic cells resistant to 2-deoxygalactose. Genetics (1976) 1.59
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet (1993) 1.57
Cloning of a breakpoint cluster region at band 3q27 involved in human non-Hodgkin's lymphoma. Genes Chromosomes Cancer (1993) 1.56
Dystrophin gene transcribed from different promoters in neuronal and glial cells. Nature (1990) 1.54
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet (1998) 1.54
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet (1993) 1.52
Quantitative estimation of minor mRNAs by cDNA-polymerase chain reaction. Application to dystrophin mRNA in cultured myogenic and brain cells. Eur J Biochem (1990) 1.52
Effects of zidovudine-selected human immunodeficiency virus type 1 reverse transcriptase amino acid substitutions on processive DNA synthesis and viral replication. J Virol (1996) 1.51
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet (1993) 1.50
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49