Published in Hum Genet on January 01, 1979
The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature (1987) 17.08
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1985) 5.01
The skeletal muscle chloride channel in dominant and recessive human myotonia. Science (1992) 4.28
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature (1991) 3.25
Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products. EMBO J (1989) 2.88
Report of the committee on the genetic constitution of chromosome 20. Cytogenet Cell Genet (1990) 2.67
Cytovillin, a microvillar Mr 75,000 protein. cDNA sequence, prokaryotic expression, and chromosomal localization. J Biol Chem (1989) 2.61
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature (1984) 2.32
Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A (1984) 2.23
Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma. Nature (1986) 2.21
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00
Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet (1992) 1.94
A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. Am J Hum Genet (1990) 1.94
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
Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis. Hum Genet (1988) 1.63
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59
A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci U S A (1984) 1.55
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Nucleotide sequence of the gene for human transition protein 1 and its chromosomal localization on chromosome 2. Genomics (1990) 1.49
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet (2000) 1.48
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44
Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers). Proc Natl Acad Sci U S A (1972) 1.42
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
Mutation in GLI3 in postaxial polydactyly type A. Nat Genet (1997) 1.38
Expression pattern in brain of TASK-1, TASK-3, and a tandem pore domain K(+) channel subunit, TASK-5, associated with the central auditory nervous system. Mol Cell Neurosci (2001) 1.37
Molecular characterization of human zyxin. J Biol Chem (1996) 1.36
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Dispersed human immunoglobulin kappa light-chain genes. Nature (1986) 1.35
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet (1997) 1.29
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet (1982) 1.25
Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet (1988) 1.24
Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. Cytogenet Cell Genet (1978) 1.22
A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med (1988) 1.21
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics (1990) 1.20
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. J Biol Chem (2000) 1.20
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Cytogenet Cell Genet (2001) 1.19
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics (1994) 1.18
Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci U S A (1987) 1.17
A leucine-to-proline substitution causes a defective alpha 1-antichymotrypsin allele associated with familial obstructive lung disease. Genomics (1993) 1.15
Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter. Science (1992) 1.14
The human lysozyme gene. Sequence organization and chromosomal localization. Eur J Biochem (1989) 1.13
X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids. Am J Hum Genet (1971) 1.13
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet (1997) 1.12
The molecular basis of alpha 1-antichymotrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol (1993) 1.12
The human lactase-phlorizin hydrolase gene is located on chromosome 2. FEBS Lett (1988) 1.10
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet (1996) 1.10
Assignment of a structural gene for beta-glucuronidase to human chromosome C7. Somatic Cell Genet (1976) 1.10
Identification of human RNA transcripts among heterogeneous nuclear RNA from man-mouse somatic cell hybrids. Proc Natl Acad Sci U S A (1975) 1.09
Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet (1986) 1.09
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1991) 1.08
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm Genome (1992) 1.08
Cloning of a cDNA encoding the human cation-dependent mannose 6-phosphate-specific receptor. Proc Natl Acad Sci U S A (1987) 1.07
Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A (1983) 1.07
Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost (1995) 1.07
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1984) 1.06
Partial reactivation of a human inactive X chromosome in human-mouse somatic cell hybrids. Cytogenet Cell Genet (1978) 1.06
Identification of optimized target sequences for the GLI3 zinc finger protein. DNA Cell Biol (1995) 1.05
Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Humangenetik (1975) 1.03
Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet (2001) 1.03
PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2. Oncogene (1993) 1.02
Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively. Genomics (1992) 1.01
Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution. Am J Hum Genet (1998) 1.01
Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics (1994) 1.01
Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet (1992) 1.01
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. Am J Hum Genet (1987) 1.00
Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome. Somat Cell Mol Genet (1984) 0.99
DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest (1990) 0.99
Localization of MPI, PKM2, IDHM, and the alpha subunit of hexosaminidase (HEXA) to the q21 leads to qter region of human chromosome 15. Cytogenet Cell Genet (1978) 0.99
Allelic dimorphism in the human tissue-type plasminogen activator (TPA) gene as a result of an Alu insertion/deletion event. Hum Genet (1992) 0.99
Chromosome assignment of genes encoding the alpha and beta subunits of glycoprotein hormones in man and mouse. Somatic Cell Genet (1983) 0.99
Human ornithine decarboxylase sequences map to chromosome regions 2pter----p23 and 7cen----qter but are not coamplified with the NMYC oncogene. Cytogenet Cell Genet (1986) 0.98
Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics (1991) 0.98
A human single-copy DNA probe (DR 47) detects a Taq I RFLP on chromosome 9 (D9S5). Nucleic Acids Res (1987) 0.97
Isolation and subregional mapping of a human cDNA clone detecting a common RFLP on chromosome 12. Hum Genet (1984) 0.97
X-linkage of human -galactosidase. Nat New Biol (1972) 0.97
Rearrangement of a common cellular DNA domain on chromosome 4 in human primary liver tumors. J Virol (1988) 0.97
The gene for SP-40,40, human homolog of rat sulfated glycoprotein 2, rat clusterin, and rat testosterone-repressed prostate message 2, maps to chromosome 8. Genomics (1991) 0.97
The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization. Hum Genet (1991) 0.96
Mechanisms involved in A/J mouse lung tumorigenesis induced by inhalation of an environmental tobacco smoke surrogate. Inhal Toxicol (2005) 0.96
All known human H1 histone genes except the H1(0) gene are clustered on chromosome 6. Genomics (1993) 0.95
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. Am J Hum Genet (1989) 0.95
Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. Lancet (1992) 0.95
Electrophoretic characterization and genetics of human biliverdin reductase (BLVR; EC 1.3.1.24); assignment of BLVR to the p14 leads to cen region of human chromosome 7 in mouse-human somatic cell hybrids. Biochem Genet (1983) 0.94
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood (2000) 0.94
Primary gene structure and expression studies of rodent paracellin-1. J Am Soc Nephrol (2001) 0.94
Isolation and characterization of a hypervariable region [D4S163] on chromosome 4. Nucleic Acids Res (1990) 0.94
Regeneration-associated high level expression of apolipoprotein D mRNA in endoneurial fibroblasts of peripheral nerve. EMBO J (1990) 0.93
Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis. Blood (1989) 0.92
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Hum Genet (1993) 0.92
The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on chromosome 22. Hum Genet (1989) 0.91
Assignment of adenosine deaminase complexing protein (ADCP) gene(s) to human chromosome 2 in rodent-human somatic cell hybrids. Hum Genet (1981) 0.91
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet (1994) 0.91