Published in DNA Seq on January 01, 1999
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. J Neural Transm (Vienna) (2005) 0.87
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
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology (2004) 1.83
Results from a genome-wide search for predisposing genes in sarcoidosis. Am J Respir Crit Care Med (2001) 1.77
Over-expression of wild-type Rad51 correlates with histological grading of invasive ductal breast cancer. Int J Cancer (2000) 1.70
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
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 1.45
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
Monoamine and diamine oxidase activities in atopic eczema. Allergy (1988) 1.43
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
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci? Neurology (2007) 1.42
Polyploidies in abortion material decrease with maternal age. Hum Genet (1993) 1.40
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
Debate. Assisted reproductive techniques - are we avoiding the genetic issues? Hum Reprod (1996) 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
Dispersed human immunoglobulin kappa light-chain genes. Nature (1986) 1.35
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology (2002) 1.32
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat (1993) 1.29
Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet (1997) 1.29
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet (1982) 1.25
Eye tracking dysfunction is a putative phenotypic susceptibility marker of schizophrenia and maps to a locus on chromosome 6p in families with multiple occurrence of the disease. Am J Med Genet (1996) 1.23
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
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet (1992) 1.22
Clinical diagnosis of partial duplication 7q. Am J Med Genet (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
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet (1994) 1.18
Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11). Proc Natl Acad Sci U S A (1987) 1.17
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers. J Neurol (2004) 1.15
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
Isochromosome 18q with karyotype 46,XX,i(18q). Cytogenetics and pathology. Clin Genet (1984) 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 human lactase-phlorizin hydrolase gene is located on chromosome 2. FEBS Lett (1988) 1.10
Assignment of a structural gene for beta-glucuronidase to human chromosome C7. Somatic Cell Genet (1976) 1.10
Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet (1986) 1.09
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
Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q). Hum Genet (1984) 1.09
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet (2001) 1.08
Prenatal trisomy 20 mosaicism: origin in fetal kidney cells? Lancet (1981) 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
Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. Neurology (2004) 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
Partial reactivation of a human inactive X chromosome in human-mouse somatic cell hybrids. Cytogenet Cell Genet (1978) 1.06
Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1984) 1.06
Identification of optimized target sequences for the GLI3 zinc finger protein. DNA Cell Biol (1995) 1.05
Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn (1998) 1.04
Heterozygous 'null allele' mutation in the human peripherin/RDS gene. Hum Mol Genet (1993) 1.04
Down's syndrome in the male. Reproductive pathology and meiotic studies. Hum Genet (1983) 1.03
Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining. Humangenetik (1975) 1.03
Screening for fra(X)(q) in a population of mentally retarded males. Hum Genet (1983) 1.02
A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet (1986) 1.02
Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection. Hum Reprod (1996) 1.02
PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2. Oncogene (1993) 1.02
Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics (1993) 1.01
Assignment of two human cell cycle genes, CDC25C and CCNB1, to 5q31 and 5q12, respectively. Genomics (1992) 1.01
Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development. Genomics (1994) 1.01
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet (1993) 1.00
Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation. Am J Med Genet (1988) 1.00
Mapping of DNA markers linked to the cystic fibrosis locus on the long arm of chromosome 7. Am J Hum Genet (1987) 1.00
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat (1995) 0.99
Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics (1994) 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
Isolation and characterization of human random cDNA clones homologous to DNA from the X chromosome. Somat Cell Mol Genet (1984) 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
The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. Am J Ophthalmol (1992) 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
Studies in Down's syndrome. I. Genetic predisposition to become a carrier of the Au-SH antigen? Vox Sang (1971) 0.98
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations. Eur J Hum Genet (2004) 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
Familial sarcoidosis is linked to the major histocompatibility complex region. Am J Respir Crit Care Med (2000) 0.96
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics (1992) 0.96
The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization. Hum Genet (1991) 0.96