Published in Am J Med Genet on December 12, 1997
Neurofibromatosis type 1. J Am Acad Dermatol (2009) 2.41
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet (2003) 1.62
Forward genetic screen for malignant peripheral nerve sheath tumor formation identifies new genes and pathways driving tumorigenesis. Nat Genet (2013) 1.60
MAP'ing CNS development and cognition: an ERKsome process. Neuron (2009) 1.49
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet (2004) 1.47
Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet (2000) 1.40
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet (2001) 0.99
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet (2005) 0.94
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. Hum Genet (2004) 0.93
Trp53 haploinsufficiency modifies EGFR-driven peripheral nerve sheath tumorigenesis. Am J Pathol (2014) 0.93
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. J Med Genet (2006) 0.93
Patterns of associations of clinical features in neurofibromatosis 1 (NF1). Hum Genet (2002) 0.89
Hereditary genodermatoses with cancer predisposition. Hematol Oncol Clin North Am (2010) 0.83
Malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. Case Rep Oncol Med (2014) 0.78
Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet (2017) 0.75
Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames. Orphanet J Rare Dis (2014) 0.75
Genetics of Bladder Malignant Tumors in Childhood. Curr Genomics (2016) 0.75
EGFR-Stat3 signalling in nerve glial cells modifies neurofibroma initiation. Oncogene (2016) 0.75
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. Childs Nerv Syst (2010) 0.75
A genetic linkage map of the human genome. Cell (1987) 13.37
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA (1997) 8.30
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell (1990) 8.10
The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell (1990) 5.24
The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell (1990) 4.84
Spinal manipulative therapy is an independent risk factor for vertebral artery dissection. Neurology (2003) 4.32
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome D in red/far-red light sensing. Plant Cell (1997) 3.66
Risk factors for seizure-related motor vehicle crashes in patients with epilepsy. Neurology (1999) 3.10
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med (1998) 2.80
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
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med (2000) 2.63
Quantitative changes in T helper or T suppressor/cytotoxic lymphocyte subsets that distinguish acquired immune deficiency syndrome from other immune subset disorders. Am J Med (1984) 2.60
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum Mol Genet (1999) 2.20
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood (1996) 2.19
Morphogenetic movements and multicellular development in the fruiting Myxobacterium, Stigmatella aurantiaca. Dev Biol (1978) 2.12
The Vancouver Lymphadenopathy-AIDS Study: 4. Effects of exposure factors, cofactors and HTLV-III seropositivity on number of helper T cells. Can Med Assoc J (1985) 2.11
Development of a compact fast CCD camera and resonant soft x-ray scattering endstation for time-resolved pump-probe experiments. Rev Sci Instrum (2011) 2.05
Saccades in presymptomatic and early stages of Huntington disease. Neurology (2006) 1.92
Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology (2002) 1.90
Pim-1: a serine/threonine kinase with a role in cell survival, proliferation, differentiation and tumorigenesis. J Vet Sci (2001) 1.89
Light-stimulated morphogenesis in the fruiting myxobacterium Stigmatella aurantiaca. Science (1978) 1.88
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet (1993) 1.83
A link between cell movement and gene expression argues that motility is required for cell-cell signaling during fruiting body development. Genes Dev (1988) 1.82
Internet access to patients' records. Lancet (1998) 1.80
Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics (1995) 1.79
Factors influencing the duration of work-related disability: a population-based study of Washington State workers' compensation. Am J Public Health (1994) 1.73
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology (2011) 1.69
Restricted production of interleukin 4 by activated human T cells. Proc Natl Acad Sci U S A (1988) 1.67
Pheromone produced by the myxobacterium Stigmatella aurantiaca. J Bacteriol (1982) 1.67
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics (1990) 1.66
Growth of immortal simian virus 40 tsA-transformed human fibroblasts is temperature dependent. Mol Cell Biol (1989) 1.64
Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61
Epidermal growth factor receptor expression in neurofibromatosis type 1-related tumors and NF1 animal models. J Clin Invest (2000) 1.56
Effects of circumcision on male sexual function: debunking a myth? J Urol (2002) 1.56
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Mol Genet Metab (2009) 1.55
VACTERL with hydrocephalus: further delineation of the syndrome(s) Am J Med Genet (1989) 1.55
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet (2000) 1.53
Diagnostic imaging of the temporomandibular joint: recommendations for use of the various techniques. AJR Am J Roentgenol (1990) 1.51
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet (1994) 1.48
Successful use of alternate waste nitrogen agents and hemodialysis in a patient with hyperammonemic coma after heart-lung transplantation. Arch Neurol (1999) 1.48
Age-related marrow conversion in the proximal metaphysis of the femur: evaluation with T1-weighted MR imaging. Radiology (1998) 1.47
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet (1996) 1.47
Searches for Lepton flavor violation in the decays tau{+/-}-->e{+/-}gamma and tau{+/-}-->mu{+/-}gamma. Phys Rev Lett (2010) 1.44
Intracoronary thrombolysis in patients with acute myocardial infarction: comparison of the efficacy of urokinase with streptokinase. Circulation (1984) 1.43
Renal dysgenesis in a monozygotic twin: association with in utero exposure to indomethacin. Am J Med Genet (1991) 1.42
Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics (1990) 1.40
1997 William J. Stickel Silver Award. The anti-inflammatory action of locally injected ketorolac. J Am Podiatr Med Assoc (1997) 1.39
Sudden death in Williams syndrome: report of ten cases. J Pediatr (1996) 1.38
Functional interactions of genes mediating convergent extension, knypek and trilobite, during the partitioning of the eye primordium in zebrafish. Dev Biol (1998) 1.36
Measurement of tibial torsion and thigh-foot angle using goniometry and computed tomography. Clin Orthop Relat Res (1991) 1.32
Identifying achievable benchmarks of care: concepts and methodology. Int J Qual Health Care (1998) 1.32
Criteria for guidance in the diagnosis of tuberculosis. Pediatrics (1969) 1.29
Bundles: meeting clinical information needs. Bull Med Libr Assoc (2001) 1.27
Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet (1996) 1.27
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Am J Hum Genet (1996) 1.24
The localization within plant cells of enzymes involved in arginine biosynthesis. Can J Biochem (1978) 1.24
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
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet (1999) 1.18
Evaluation of the Washington State Workers' Compensation Managed Care Pilot Project I: medical outcomes and patient satisfaction. Med Care (1999) 1.18
Evaluation of the Washington State Workers' Compensation Managed Care Pilot Project II: medical and disability costs. Med Care (1999) 1.17
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet (2008) 1.16
Glomerulocystic disease: unilateral involvement of a horseshoe kidney and in trisomy 18. Pediatr Nephrol (1993) 1.15
Body composition, energy expenditure, and energy intake in patients with Williams syndrome. J Pediatr (1998) 1.13
Communication skills training in postgraduate medicine: the development of a new course. Postgrad Med J (2004) 1.12
Genetic analysis of the virD operon of Agrobacterium tumefaciens: a search for functions involved in transport of T-DNA into the plant cell nucleus and in T-DNA integration. J Bacteriol (1993) 1.12
Photocontrol of development by Stigmatella aurantiaca. J Bacteriol (1980) 1.11
Morphogenetic effects of light and guanine derivatives on the fruiting myxobacterium Stigmatella aurantiaca. J Bacteriol (1980) 1.11
Efficient DNA-mediated transfer of selectable genes and unselected sequences into differentiated and undifferentiated mouse melanoma clones. Somat Cell Mol Genet (1984) 1.10
Effects of specific cations on aggregation and fruiting body morphology in the myxobacterium Stigmatella aurantiaca. J Bacteriol (1980) 1.09
Application of mixed models to assess exposures monitored by construction workers during hot processes. Ann Occup Hyg (1999) 1.08
Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet (1998) 1.08
Precise measurement of the e+e- --> pi+pi-(gamma) cross section with the initial state radiation method at BABAR. Phys Rev Lett (2009) 1.07
Pharmacokinetics of spiramycin in man. J Antimicrob Chemother (1988) 1.07
A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet (1990) 1.07
Cystic kidneys associated with connective tissue disorders. Am J Med Genet (1997) 1.07
Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1. Neurology (2003) 1.05
Two NF1 translocations map within a 600-kilobase segment of 17q11.2. Science (1989) 1.05
A distinctive facial appearance in neurofibromatosis von Recklinghausen. Am J Med Genet (1985) 1.05
Measurement of |V(cb)| and the form-factor slope in B --> Dl- nu(l) decays in events tagged by a fully reconstructed B meson. Phys Rev Lett (2010) 1.05
Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. Genomics (1987) 1.03
Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet (1999) 1.03
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet (1992) 1.03
Preaxial ray reduction defects as part of valproic acid embryofetopathy. Prenat Diagn (1993) 1.03
Polycystic kidney diseases in childhood. J Pediatr (1989) 1.03
Pheromones among the procaryotes. Crit Rev Microbiol (1986) 1.02
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet (1994) 1.02
X linked recessive inheritance of agenesis of the corpus callosum. J Med Genet (1983) 1.02
cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics (1991) 1.02
Influence of clerkship structure and timing on individual student performance. Am J Surg (1990) 1.00
Lateral meningocele syndrome: three new patients and review of the literature. Am J Med Genet (1997) 1.00
Splenosis presenting as occult gastrointestinal bleeding. Am J Hematol (2000) 0.99
Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol (1988) 0.99
Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome. Am J Dis Child (1977) 0.98
Osteogenic protein-1 protects against cerebral infarction induced by MCA ligation in adult rats. Stroke (1999) 0.98
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol (2000) 0.98