Published in Cytogenet Cell Genet on January 01, 1978
Site-specific integration by adeno-associated virus. Proc Natl Acad Sci U S A (1990) 7.06
Existence of glucose-6-phosphate dehydrogenase-like locus on chromosome 17. Am J Hum Genet (1986) 0.86
Glucose dehydrogenase polymorphism among ethnic groups of Singapore--with report of two additional alleles (GDH4 and GDH5). Am J Hum Genet (1987) 0.75
The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature (1987) 17.08
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (1993) 5.05
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
Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenet Cell Genet (1986) 3.76
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell (1995) 3.72
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature (1991) 3.25
Cloning of a gene that is rearranged in patients with choroideraemia. Nature (1990) 3.21
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet (1985) 3.07
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
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
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet (1984) 2.58
Cloning of a gene highly overexpressed in cancer coding for a novel KH-domain containing protein. Oncogene (1997) 2.58
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet (1996) 2.47
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
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
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet (2001) 2.04
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
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet (1992) 1.94
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting. Genomics (1995) 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
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet (1996) 1.90
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet (1993) 1.84
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet (2000) 1.84
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
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet (2000) 1.78
Molecular cloning and characterization of the human protein kinase D2. A novel member of the protein kinase D family of serine threonine kinases. J Biol Chem (2000) 1.76
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat (1997) 1.74
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Expression of the highly conserved RNA binding protein KOC in embryogenesis. Mech Dev (1999) 1.64
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res (1990) 1.63
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
Expression and differential regulation of connective tissue growth factor in pancreatic cancer cells. Oncogene (1999) 1.60
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics (1989) 1.59
Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet (1992) 1.55
A human autosomal phosphoglycerate kinase locus maps near the HLA cluster. Proc Natl Acad Sci U S A (1984) 1.55
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Expression of p53 during mouse embryogenesis. Development (1991) 1.50
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
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
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Hum Genet (1988) 1.47
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet (1995) 1.47
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet (1983) 1.47
A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution? Trends Genet (2001) 1.46
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics (1989) 1.44
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
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
The Opitz syndrome gene product, MID1, associates with microtubules. Proc Natl Acad Sci U S A (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
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J Med Genet (1999) 1.41
Regional assignment of the gene locus for steroid sulfatase. Hum Genet (1980) 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
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
X-linked steroid sulfatase: evidence for different gene-dosage in males and females. Hum Genet (1980) 1.37
Molecular characterization of human zyxin. J Biol Chem (1996) 1.36
Dispersed human immunoglobulin kappa light-chain genes. Nature (1986) 1.35
Expression, phosphorylation and nuclear localization of the human P1 protein, a homologue of the yeast Mcm 3 replication protein. J Cell Sci (1995) 1.34
The expression pattern of the Hmgic gene during development. Genes Chromosomes Cancer (1998) 1.33
Report of the committee on the genetic constitution of chromosomes 13, 14, 15 amd 16. Cytogenet Cell Genet (1987) 1.32
Cloning and characterization of the human choroideremia gene. Hum Mol Genet (1994) 1.31
Point mutations in human GLI3 cause Greig syndrome. Hum Mol Genet (1997) 1.29
Regional localization of the human factor IX gene by molecular hybridization. Hum Genet (1983) 1.28
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet (1997) 1.27
In situ hybridization studies on variant t(2;8) translocations in Burkitt lymphoma lines. Hum Genet (1986) 1.25
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. Hum Genet (1982) 1.25
Dynamic expression pattern of the myc protooncogene in midgestation mouse embryos. Science (1989) 1.24
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet (2001) 1.21
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet (1994) 1.21
THIK-1 and THIK-2, a novel subfamily of tandem pore domain K+ channels. J Biol Chem (2000) 1.20
Partial monosomy 22pter leads to q11 in a newborn with the clinical features of trisomy 13 syndrome. Ann Genet (1980) 1.20
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet (2010) 1.20
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics (1999) 1.19
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Cytogenet Cell Genet (2001) 1.19
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). Genomics (1999) 1.19
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet (2000) 1.19
Brief report: reverse mutation in myotonic dystrophy. N Engl J Med (1993) 1.19
Breakpoint analysis of the pericentric inversion between chimpanzee chromosome 10 and the homologous chromosome 12 in humans. Cytogenet Genome Res (2005) 1.18
Report of the committee on the genetic constitution of chromosomes 12 and 13. Cytogenet Cell Genet (1989) 1.18
An X-chromosome linked locus contributes to abnormal placental development in mouse interspecific hybrid. Nat Genet (1996) 1.18
Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics (1994) 1.18
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet (1981) 1.18