Published in Science on June 02, 1989
Autophagy in malignant transformation and cancer progression. EMBO J (2015) 2.67
Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci U S A (1990) 2.52
Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet (1996) 1.83
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet (1993) 1.19
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Res (2011) 1.10
A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet (1990) 1.07
Molecular and cellular mechanisms of learning disabilities: a focus on NF1. Annu Rev Neurosci (2010) 1.04
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet (1992) 1.03
SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis. Hum Genet (2004) 0.96
Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet (1994) 0.96
Long-distance restriction mapping of the proximal long arm of human chromosome 21 with Not I linking clones. Proc Natl Acad Sci U S A (1992) 0.92
Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol (2011) 0.91
Refined physical and genetic mapping of the NF1 region on chromosome 17. Am J Hum Genet (1989) 0.90
Clinical and genetic patterns of neurofibromatosis 1 and 2. Br J Ophthalmol (1993) 0.87
The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am J Hum Genet (1991) 0.86
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. Am J Hum Genet (1992) 0.83
Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17. Proc Natl Acad Sci U S A (1990) 0.83
Random-breakage mapping method applied to human DNA sequences. Nucleic Acids Res (1996) 0.82
Neurofibromatosis: chronological history and current issues. An Bras Dermatol (2013) 0.77
Genetic interactions between neurofibromin and endothelin receptor B in mice. PLoS One (2013) 0.75
A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science (1995) 15.20
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res (1991) 9.56
Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29
Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (1997) 7.95
Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. Proc Natl Acad Sci U S A (1984) 7.38
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23
The mammalian gene collection. Science (1999) 7.19
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell (1993) 6.29
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet (1997) 5.58
The molecular genetics of human hemoglobin. Prog Nucleic Acid Res Mol Biol (1984) 5.50
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39
Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (1994) 5.34
Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science (1996) 5.06
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Nat Genet (1999) 4.79
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature (1992) 4.42
Direct sequencing of enzymatically amplified human genomic DNA. Proc Natl Acad Sci U S A (1988) 4.41
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1. Cell (1995) 4.34
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat Genet (1996) 4.19
Cerebrospinal fluid human immunodeficiency virus type 1 RNA levels are elevated in neurocognitively impaired individuals with acquired immunodeficiency syndrome. HIV Neurobehavioral Research Center Group. Ann Neurol (1997) 4.17
Genetic discrimination and health insurance: an urgent need for reform. Science (1995) 4.08
CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science (1993) 3.88
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 3.87
Construction of a general human chromosome jumping library, with application to cystic fibrosis. Science (1987) 3.87
Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res (1998) 3.77
Characterization of the CHD family of proteins. Proc Natl Acad Sci U S A (1997) 3.76
Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet (1989) 3.74
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer. Cell (1990) 3.70
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell (1987) 3.60
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes. Mol Cell Biol (1992) 3.57
Induction of the growth inhibitor IGF-binding protein 3 by p53. Nature (1995) 3.55
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res (1998) 3.36
A de novo Alu insertion results in neurofibromatosis type 1. Nature (1991) 3.29
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell (1999) 3.16
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. Science (1991) 3.12
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet (1995) 3.05
Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop. Am J Cardiol (1992) 3.03
DNA markers for nervous system diseases. Science (1984) 3.02
Cloning and expression of an adhesin (AIDA-I) involved in diffuse adherence of enteropathogenic Escherichia coli. Infect Immun (1989) 2.99
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (1995) 2.96
The structure of the capsular polysaccharide (K5 antigen) of urinary-tract-infective Escherichia coli 010:K5:H4. A polymer similar to desulfo-heparin. Eur J Biochem (1981) 2.84
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83
Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet (1998) 2.81
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Huntington's disease. Pathogenesis and management. N Engl J Med (1986) 2.77
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. JAMA (1997) 2.73
Positional cloning: let's not call it reverse anymore. Nat Genet (1992) 2.69
Strategies for mapping and cloning macroregions of mammalian genomes. Methods Enzymol (1987) 2.68
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. Am J Hum Genet (2001) 2.68
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet (2000) 2.67
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev (1998) 2.66
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci U S A (2001) 2.57
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA (1993) 2.51
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42
FIP1L1-PDGFRA in eosinophilic disorders: prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res (2006) 2.41
Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A (1998) 2.39
Neuropsychological impairment in human immunodeficiency virus-infection: implications for employment. HNRC Group. HIV Neurobehavioral Research Center. Psychosom Med (1994) 2.39
A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature (1985) 2.33
Genetic organization of the afimbrial adhesin operon and nucleotide sequence from a uropathogenic Escherichia coli gene encoding an afimbrial adhesin. J Bacteriol (1985) 2.32
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30
Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma. Leukemia (2003) 2.28
Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood (1995) 2.23
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet (1991) 2.23
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet (1999) 2.20
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res (1998) 2.17
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A (2003) 2.15
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am J Hum Genet (1998) 2.13
[177Lu-DOTAOTyr3]octreotate: comparison with [111In-DTPAo]octreotide in patients. Eur J Nucl Med (2001) 2.11
Analysis of clonal B-cell CD38 and immunoglobulin variable region sequence status in relation to clinical outcome for B-chronic lymphocytic leukaemia. Br J Haematol (2001) 2.10
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet (1993) 2.10
AIDA-I, the adhesin involved in diffuse adherence of the diarrhoeagenic Escherichia coli strain 2787 (O126:H27), is synthesized via a precursor molecule. Mol Microbiol (1992) 2.08