Chromosome 13 restriction fragment length polymorphisms.

Osteosarcoma and retinoblastoma: a shared chromosomal mechanism revealing recessive predisposition. Proc Natl Acad Sci U S A (1985) 2.44

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A (1986) 2.30

A systematic approach for detecting high-frequency restriction fragment length polymorphisms using large genomic probes. Am J Hum Genet (1985) 2.12

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A (1985) 2.00

Molecular genetic approach to human meningioma: loss of genes on chromosome 22. Proc Natl Acad Sci U S A (1987) 1.63

Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. Am J Hum Genet (1986) 1.30

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet (1987) 1.24

Optimizing selection of restriction enzymes in the search for DNA variants. Nucleic Acids Res (1984) 1.20

Evidence for the close linkage between lymphocyte cytosol polypeptide with molecular weight of 64,000 (LCP1) and esterase D. Am J Hum Genet (1985) 1.12

Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. Am J Hum Genet (1996) 1.06

Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees. Am J Hum Genet (1988) 0.99

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (1986) 13.96

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (1983) 11.57

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science (1985) 5.23

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature (1990) 5.13

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86

Speech and survival: tradeoffs between quality and quantity of life in laryngeal cancer. N Engl J Med (1981) 4.34

Fallacy of the five-year survival in lung cancer. N Engl J Med (1978) 4.23

Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Proc Natl Acad Sci U S A (1990) 4.06

p73 is regulated by tyrosine kinase c-Abl in the apoptotic response to DNA damage. Nature (1999) 3.55

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet (1992) 3.51

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet (1993) 3.49

Point mutational inactivation of the retinoblastoma antioncogene. Science (1989) 3.37

The T cell receptor beta chain genes are located on chromosome 6 in mice and chromosome 7 in humans. Cell (1984) 3.34

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron (1992) 3.25

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A (1998) 3.22

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet (1984) 3.17

Proteolytic activation of protein kinase C delta by an ICE-like protease in apoptotic cells. EMBO J (1995) 3.16

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med (1989) 3.03

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature (1991) 3.00

The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice. Proc Natl Acad Sci U S A (1987) 2.91

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet (1989) 2.68

The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome. Proc Natl Acad Sci U S A (1990) 2.68

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet (2000) 2.66

Localization of gelsolin proximal to ABL on chromosome 9. Am J Hum Genet (1988) 2.64

Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med (1984) 2.49

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet (1991) 2.45

Translocation of SAPK/JNK to mitochondria and interaction with Bcl-x(L) in response to DNA damage. J Biol Chem (2000) 2.44

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A (1995) 2.41

The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics (1991) 2.39

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A (1996) 2.36

Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. J Biol Chem (1992) 2.35

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A (1986) 2.30

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol (1991) 2.26

Parental origin of mutations of the retinoblastoma gene. Nature (1989) 2.26

Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci U S A (1989) 2.25

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet (1997) 2.19

Report of the committee on the genetic constitution of chromosome 1. Cytogenet Cell Genet (1989) 2.18

Negative regulation of cytochrome c-mediated oligomerization of Apaf-1 and activation of procaspase-9 by heat shock protein 90. EMBO J (2000) 2.13

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature (1991) 2.12

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene (1989) 2.09

Ionizing radiation induces expression and binding activity of the nuclear factor kappa B. J Clin Invest (1991) 2.08

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet (1999) 2.04

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science (1990) 1.99

Assembly of RecA-like recombinases: distinct roles for mediator proteins in mitosis and meiosis. Proc Natl Acad Sci U S A (2001) 1.97

Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. J Biol Chem (1988) 1.97

Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma. Eur J Cancer (2002) 1.95

A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32. J Immunol (1987) 1.94

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem (1992) 1.91

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest (1990) 1.91

Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII. Proc Natl Acad Sci U S A (1984) 1.91

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A (1998) 1.90

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet (1993) 1.86

Oncogenes and tumor-suppressing genes. N Engl J Med (1988) 1.84

The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. Nature (1986) 1.84

Role for Bcl-xL as an inhibitor of cytosolic cytochrome C accumulation in DNA damage-induced apoptosis. Proc Natl Acad Sci U S A (1997) 1.82

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet (1999) 1.81

Human genetics. Deficiencies in sight with the candidate gene approach. Nature (1990) 1.77

Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A (1989) 1.73

Hsp27 functions as a negative regulator of cytochrome c-dependent activation of procaspase-3. Oncogene (2000) 1.72

Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature (1983) 1.71

The erythroid cells and haemoglobins of the chick embryo. Philos Trans R Soc Lond B Biol Sci (1973) 1.69

A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet (1987) 1.68

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol (1991) 1.64

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A (1989) 1.61

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet (1995) 1.61

Human lysosomal genes: arylsulfatase A and beta-galactosidase. Biochem Genet (1979) 1.60

Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes. Ophthalmology (1999) 1.57

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet (1997) 1.55

Prostate-specific antigen levels in African-Americans correlate with insurance status as an indicator of socioeconomic status. Cancer J Sci Am (2006) 1.54

Functional interaction between DNA-PK and c-Abl in response to DNA damage. Nature (1997) 1.54

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet (1998) 1.54

Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. J Biol Chem (1985) 1.54

Regulation of Rad51 function by c-Abl in response to DNA damage. J Biol Chem (1998) 1.53

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A (1995) 1.52

Race and the Will Rogers phenomenon in prostate cancer. Cancer J Sci Am (1998) 1.50

Regulation of DNA damage-induced apoptosis by the c-Abl tyrosine kinase. Proc Natl Acad Sci U S A (1997) 1.48

Human serum amyloid P component. cDNA isolation, complete sequence of pre-serum amyloid P component, and localization of the gene to chromosome 1. J Biol Chem (1985) 1.47

Activation of the cytoplasmic c-Abl tyrosine kinase by reactive oxygen species. J Biol Chem (2000) 1.45

Molecular cloning of human adenosine deaminase gene sequences. J Biol Chem (1983) 1.44

Role for p300 in stabilization of p53 in the response to DNA damage. J Biol Chem (1999) 1.43

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci (2000) 1.41

Inactivation of DNA-dependent protein kinase by protein kinase Cdelta: implications for apoptosis. Mol Cell Biol (1998) 1.40

The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart. J Biol Chem (1985) 1.40

Lacrimal gland tumors: a clinicopathological analysis of 160 cases. Int Ophthalmol Clin (1982) 1.39

Role for c-Abl tyrosine kinase in growth arrest response to DNA damage. Nature (1996) 1.39

Potency preservation following conformal radiotherapy for localized prostate cancer: impact of neoadjuvant androgen blockade, treatment technique, and patient-related factors. Cancer J Sci Am (1999) 1.39

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum Mutat (2001) 1.37

In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Invest Ophthalmol Vis Sci (1994) 1.36

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci (2001) 1.34

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet (1997) 1.34