Published in Hum Mol Genet on July 01, 1992
Classification of gas5 as a multi-small-nucleolar-RNA (snoRNA) host gene and a member of the 5'-terminal oligopyrimidine gene family reveals common features of snoRNA host genes. Mol Cell Biol (1998) 3.08
A Jun-binding protein related to a putative tumor suppressor. Proc Natl Acad Sci U S A (1993) 1.09
Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci U S A (1993) 0.98
Direct selection of DNA sequences conserved between species. Nucleic Acids Res (1993) 0.80
Isolation and characterization of the QM promoter. Nucleic Acids Res (1996) 0.75
Lambda replacement vectors carrying polylinker sequences. J Mol Biol (1983) 32.76
A physical map of the human genome. Nature (2001) 12.39
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet (1998) 6.82
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature (1990) 5.13
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. EMBO Rep (2000) 5.06
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature (1993) 5.05
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (1993) 5.05
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet (1996) 4.36
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science (1994) 4.27
Cloning of the T gene required in mesoderm formation in the mouse. Nature (1990) 4.20
Selective isolation of cosmid clones by homologous recombination in Escherichia coli. Proc Natl Acad Sci U S A (1984) 4.11
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet (1994) 4.11
Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res (2001) 3.97
Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. Nucleic Acids Res (1986) 3.86
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61
A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet (1996) 3.58
Molecular mechanisms of the biological clock in cultured fibroblasts. Science (2001) 3.46
Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet (1998) 3.30
Analysis of cosmids using linearization by phage lambda terminase. Gene (1985) 2.98
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J (1986) 2.64
Construction and use of human chromosome jumping libraries from NotI-digested DNA. Nature (1987) 2.58
Sequence interpretation. Functional annotation of mouse genome sequences. Science (2001) 2.54
Dickkopf genes are co-ordinately expressed in mesodermal lineages. Mech Dev (1999) 2.36
Primer design for large scale sequencing. Nucleic Acids Res (1998) 2.31
Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25
Identification and classification of differentially expressed genes in renal cell carcinoma by expression profiling on a global human 31,500-element cDNA array. Genome Res (2001) 2.25
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. Nat Genet (1997) 2.18
Molecular approaches to mammalian genetics. Cold Spring Harb Symp Quant Biol (1986) 1.99
Dimerization and nuclear entry of mPER proteins in mammalian cells. Genes Dev (2000) 1.98
Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet (1992) 1.91
Processing and quality control of DNA array hybridization data. Bioinformatics (2000) 1.86
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol (1999) 1.84
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol (2000) 1.84
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science (1991) 1.82
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet (1999) 1.80
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med (1992) 1.78
Specific methylation pattern at the 3' end of the human housekeeping gene for glucose 6-phosphate dehydrogenase. EMBO J (1984) 1.75
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. J Pediatr (2000) 1.74
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol (1993) 1.70
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression. Hum Mol Genet (1999) 1.70
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet (1994) 1.69
Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D. Proc Natl Acad Sci U S A (1999) 1.69
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322. Nature (1981) 1.69
Identifying splits with clear separation: a new class discovery method for gene expression data. Bioinformatics (2001) 1.67
The 5-HT transporter gene-linked polymorphic region (5-HTTLPR) in evolutionary perspective: alternative biallelic variation in rhesus monkeys. Rapid communication. J Neural Transm (Vienna) (1997) 1.65
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod (2005) 1.64
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nat Genet (1994) 1.62
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet (1992) 1.51
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
A temperature-sensitive mutation affecting 28S ribosomal RNA production in mammalian cells. Proc Natl Acad Sci U S A (1973) 1.49
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet (1993) 1.48
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Mol Psychiatry (2003) 1.47
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Two point mutations are responsible for G6PD polymorphism in Sardinia. Am J Hum Genet (1989) 1.42
Fibrinolytic responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus. Nephron (1990) 1.42
Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation. Nucleic Acids Res (1984) 1.42
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene. Am J Hum Genet (1990) 1.41
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation. Genomics (1990) 1.39
Stability of DNA methylation of X-chromosome genes during aging. Somat Cell Mol Genet (1990) 1.39
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome. Am J Hum Genet (1991) 1.38
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
DMBT1 encodes a protein involved in the immune defense and in epithelial differentiation and is highly unstable in cancer. Cancer Res (2000) 1.32
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet (1994) 1.30
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet (1993) 1.28
Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc Natl Acad Sci U S A (1991) 1.28
A strategy for the selection of transcribed sequences in the Xq28 region. Hum Mol Genet (1992) 1.28
The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34. Mol Cell Biol (1990) 1.27
Human histone gene organization: nonregular arrangement within a large cluster. Genomics (1997) 1.27
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene. Nucleic Acids Res (1988) 1.24
Myotonic dystrophy. Predictive value of normal results on clinical examination. Brain (1991) 1.24
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet (1996) 1.23
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. Mol Psychiatry (2006) 1.23
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm Genome (2000) 1.23
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest (1996) 1.22
Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet (1997) 1.21
Genomic organization of the adrenoleukodystrophy gene. Genomics (1994) 1.19
Brief report: reverse mutation in myotonic dystrophy. N Engl J Med (1993) 1.19
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology (2002) 1.18
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet (1999) 1.18
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. Genomics (1989) 1.17
A family of cosmid vectors with the multi-copy R6K replication origin. Gene (1987) 1.16
Alternative splicing in the fragile X gene FMR1. Hum Mol Genet (1993) 1.16
The melanoma antigen gene (MAGE) family is clustered in the chromosomal band Xq28. Genomics (1995) 1.16
Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors. J Neuropathol Exp Neurol (2000) 1.15
A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proc Natl Acad Sci U S A (1996) 1.14