Published in Genomics on December 01, 1987
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Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet (1989) 2.04
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet (1996) 1.56
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet (1989) 1.54
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). Am J Hum Genet (1989) 1.37
Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proc Natl Acad Sci U S A (1989) 1.33
The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints. Am J Hum Genet (1989) 1.18
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet (1990) 1.07
A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. Am J Hum Genet (1989) 0.95
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. Am J Hum Genet (1989) 0.93
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. Am J Hum Genet (1995) 0.92
Genetic analysis of eight loci tightly linked to neurofibromatosis 1. Am J Hum Genet (1989) 0.91
Refined physical and genetic mapping of the NF1 region on chromosome 17. Am J Hum Genet (1989) 0.90
Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type I. Am J Hum Genet (1989) 0.89
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am J Hum Genet (1989) 0.88
Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. Am J Hum Genet (1989) 0.87
The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am J Hum Genet (1991) 0.86
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A search for evidence of somatic mutations in the NF1 gene. J Med Genet (2000) 0.78
The NF1 gene in tumor syndromes and melanoma. Lab Invest (2017) 0.75
The sequence of the human genome. Science (2001) 101.55
alpha-Synuclein locus triplication causes Parkinson's disease. Science (2003) 20.20
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (1994) 8.73
DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell (1991) 7.93
A prognostic index in primary breast cancer. Br J Cancer (1982) 7.35
Properties of the translocatable tetracycline-resistance element Tn10 in Escherichia coli and bacteriophage lambda. Genetics (1978) 6.73
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
Transforming p21ras mutants and c-Ets-2 activate the cyclin D1 promoter through distinguishable regions. J Biol Chem (1995) 6.25
Stimulation of intestinal mucosal adenyl cyclase by cholera enterotoxin and prostaglandins. J Clin Invest (1971) 6.09
Smoking, smoking cessation, and major depression. JAMA (1990) 5.89
Communication failures in patient sign-out and suggestions for improvement: a critical incident analysis. Qual Saf Health Care (2005) 5.55
Proteasome inhibitors: a novel class of potent and effective antitumor agents. Cancer Res (1999) 5.35
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science (1987) 5.11
Immunosuppression in vivo by a soluble form of the CTLA-4 T cell activation molecule. Science (1992) 4.53
Erythrocyte entry by malarial parasites. A moving junction between erythrocyte and parasite. J Cell Biol (1978) 4.50
Personal view. Is it reality or an illusion that liquid-based cytology is better than conventional cervical smears? Cytopathology (2001) 4.40
Regulation of protein kinase C zeta by PI 3-kinase and PDK-1. Curr Biol (1998) 4.13
Sequence-specific interaction of R17 coat protein with its ribonucleic acid binding site. Biochemistry (1983) 4.09
Very low birth weight outcomes of the National Institute of Child Health and Human Development Neonatal Network. Pediatrics (1991) 4.02
Dependence on hypnotic drugs in general practice. Br Med J (1968) 3.88
Making self regulation credible. Through benchmarking, peer review, appraisal-and management. BMJ (1998) 3.84
SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev Biol (1997) 3.84
A mapped set of DNA markers for human chromosome 17. Genomics (1988) 3.55
An epidemiological study of disorders in late childhood and adolescence--I. Age- and gender-specific prevalence. J Child Psychol Psychiatry (1993) 3.54
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The Arabidopsis NIM1 protein shows homology to the mammalian transcription factor inhibitor I kappa B. Plant Cell (1997) 3.40
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord (1991) 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
A controlled trial of an educational program to prevent low back injuries. N Engl J Med (1997) 3.33
Interaction of R17 coat protein with its RNA binding site for translational repression. J Biomol Struct Dyn (1983) 3.20
Gel retardation. Methods Enzymol (1991) 3.11
Identification of more than 500 RFLPs by screening random genomic clones. Am J Hum Genet (1988) 3.01
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
Genetic linkage map of human chromosome 7 with 63 DNA markers. Proc Natl Acad Sci U S A (1987) 2.91
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science (1992) 2.89
Mupirocin resistance. Lancet (1991) 2.88
Pharmacologic paralysis and withdrawal of mechanical ventilation at the end of life. N Engl J Med (2000) 2.81
Pathogen-specific loss of host resistance in mice lacking the IFN-gamma-inducible gene IGTP. Proc Natl Acad Sci U S A (2000) 2.80
A gp91phox containing NADPH oxidase selectively expressed in endothelial cells is a major source of oxygen radical generation in the arterial wall. Circ Res (2000) 2.79
Are patients with abnormal cervical smears adequately managed? Br Med J (Clin Res Ed) (1984) 2.78
Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet (1997) 2.77
Imaging adenoviral-directed reporter gene expression in living animals with positron emission tomography. Proc Natl Acad Sci U S A (1999) 2.71
Cardiac Resuscitation. Ann Surg (1948) 2.70
Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood (1999) 2.66
Insulin receptor phosphorylation, insulin receptor substrate-1 phosphorylation, and phosphatidylinositol 3-kinase activity are decreased in intact skeletal muscle strips from obese subjects. J Clin Invest (1995) 2.66
Tandem binding in crystals of a trp repressor/operator half-site complex. Nature (1993) 2.65
Report of the committee on the genetic constitution of chromosome 17. Cytogenet Cell Genet (1989) 2.59
The Concise Guide to PHARMACOLOGY 2013/14: overview. Br J Pharmacol (2013) 2.48
Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: a multicenter transfusion trial. Transfusion (2001) 2.47
Anticoccidial drugs: lesion scoring techniques in battery and floor-pen experiments with chickens. Exp Parasitol (1970) 2.40
Efficient transfer of genetic material into mammalian cells using Starburst polyamidoamine dendrimers. Proc Natl Acad Sci U S A (1996) 2.39
Social phobia. Comorbidity and morbidity in an epidemiologic sample. Arch Gen Psychiatry (1992) 2.37
Interaction of R17 coat protein with synthetic variants of its ribonucleic acid binding site. Biochemistry (1983) 2.30
A randomized trial comparing fluconazole with clotrimazole troches for the prevention of fungal infections in patients with advanced human immunodeficiency virus infection. NIAID AIDS Clinical Trials Group. N Engl J Med (1995) 2.29
Impact of chronic transfusion on incidence of pain and acute chest syndrome during the Stroke Prevention Trial (STOP) in sickle-cell anemia. J Pediatr (2001) 2.24
Maspin acts at the cell membrane to inhibit invasion and motility of mammary and prostatic cancer cells. Proc Natl Acad Sci U S A (1996) 2.20
A longitudinal analysis of selected risk factors for childhood psychopathology. J Am Acad Child Adolesc Psychiatry (1989) 2.20
The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A (1990) 2.19
Sequence of an HLA-DR alpha-chain cDNA clone and intron-exon organization of the corresponding gene. Nature (1982) 2.18
Causes of suppurative keratitis in Ghana. Br J Ophthalmol (1995) 2.17
Cotinine in the serum, saliva, and urine of nonsmokers, passive smokers, and active smokers. Am J Public Health (1988) 2.16
Phylogenetic relationships of agaric fungi based on nuclear large subunit ribosomal DNA sequences. Syst Biol (2000) 2.14
Genetic and biochemical characterization of the birA gene and its product: evidence for a direct role of biotin holoenzyme synthetase in repression of the biotin operon in Escherichia coli. J Mol Biol (1981) 2.14
Evaluation of a telerobotic system to assist surgeons in microsurgery. Comput Aided Surg (1999) 2.13
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet (1990) 2.11
A PEST-like element in FREQUENCY determines the length of the circadian period in Neurospora crassa. EMBO J (2001) 2.08
Incidence of retinopathy of prematurity in Lothian, Scotland, from 1990 to 2004. Arch Dis Child Fetal Neonatal Ed (2008) 2.08
Kinetic and thermodynamic characterization of the R17 coat protein-ribonucleic acid interaction. Biochemistry (1983) 2.07
Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet (2012) 2.06
The Functional Independence Measure: a comparative validity and reliability study. Disabil Rehabil (1995) 2.04
Linkage analyses of murine immunoglobulin heavy chain and serum prealbumin genes establish their location on chromosome 12 proximal to the T (5;12) 31H breakpoint in band 12F1. Proc Natl Acad Sci U S A (1980) 2.03
The birA gene of Escherichia coli encodes a biotin holoenzyme synthetase. J Mol Biol (1981) 2.02
Evaluation of a protocol for post-mortem examination of stillbirths. N Engl J Med (1983) 2.01
Disseminated candidiasis due to amphotericin B-resistant Candida albicans. J Infect Dis (1992) 2.01
A randomized active-controlled trial of mycophenolate mofetil in heart transplant recipients. Mycophenolate Mofetil Investigators. Transplantation (1998) 1.97
Predicting mortality risk for infants weighing 501 to 1500 grams at birth: a National Institutes of Health Neonatal Research Network report. Crit Care Med (1993) 1.97
A polymorphic stop codon in BRCA2. Nat Genet (1996) 1.95
Painless left hemorrhagic pleural effusion: An unusual presentation of dissecting ascending aortic aneurysm. Chest (1999) 1.94
Photosynthetic and phylogenetic primers for detection of anoxygenic phototrophs in natural environments. Appl Environ Microbiol (2001) 1.93
A comparison of whole-body turboSTIR MR imaging and planar 99mTc-methylene diphosphonate scintigraphy in the examination of patients with suspected skeletal metastases. AJR Am J Roentgenol (1997) 1.92
Observer agreement in evaluating coronary angiograms. Circulation (1975) 1.92
Relationship between oestrogen-receptor content and histological grade in human primary breast tumours. Br J Cancer (1978) 1.90
Importance of lymphatic mapping in ductal carcinoma in situ (DCIS): why map DCIS? Am Surg (2001) 1.87
Possible origin of the high incidence of Clostridium botulinum type E in an inland bay (Green Bay of Lake Michigan). J Bacteriol (1968) 1.86
Sequences related to HLA-DR alpha chain on human chromosome 6: restriction enzyme polymorphism detected with DC alpha chain probes. Proc Natl Acad Sci U S A (1983) 1.85
CD5-mediated negative regulation of antigen receptor-induced growth signals in B-1 B cells. Science (1996) 1.84
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84
Depressive symptoms in women in the six months after miscarriage. Am J Obstet Gynecol (1992) 1.84
Contribution of meniscal extrusion and cartilage loss to joint space narrowing in osteoarthritis. Clin Radiol (1999) 1.82
Prevalence of myopia between 3 months and 5 1/2 years in preterm infants with and without retinopathy of prematurity. Cryotherapy for Retinopathy of Prematurity Cooperative Group. Ophthalmology (1998) 1.82
An audit of the 1995 Royal College of Ophthalmologists guidelines for screening for retinopathy of prematurity applied retrospectively in one regional neonatal intensive care unit. Eye (Lond) (1995) 1.82
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet (2001) 1.80
Pulmonary veno-occlusive disease: a case series and new observations. Chest (2000) 1.80