Published in Am J Med Genet on December 04, 1995
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
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
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NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09
A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn (2011) 1.08
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Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet (1998) 0.95
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A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am J Hum Genet (1998) 0.83
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A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. Childs Nerv Syst (2010) 0.75
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Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome. Cephalalgia (2009) 1.18
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Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet (1998) 1.16
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Breast cancer in men: aspects of familial aggregation. J Natl Cancer Inst (1991) 1.09
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Family history as a risk factor for early onset myocardial infarction in young women. Atherosclerosis (2001) 1.01
Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet (1997) 1.00
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Monitoring of brain tissue PO2 in traumatic brain injury: effect of cerebral hypoxia on outcome. Acta Neurochir Suppl (1998) 0.96
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Genetic influences on age-related change in total cholesterol, low density lipoprotein-cholesterol, and triglyceride levels: longitudinal apolipoprotein E genotype effects. Genet Epidemiol (1994) 0.96
A double-blind, randomized, controlled trial of the effects of two eggs per day in moderately hypercholesterolemic and combined hyperlipidemic subjects taught the NCEP step I diet. J Am Coll Nutr (1997) 0.95
LDL subclass phenotypes and the insulin resistance syndrome in women. Circulation (1993) 0.94
Compositional differences of LDL particles in normal subjects with LDL subclass phenotype A and LDL subclass phenotype B. Arterioscler Thromb Vasc Biol (1996) 0.94
Concordance for dyslipidemic hypertension in male twins. JAMA (1991) 0.93
Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance. Arch Dis Child (2008) 0.93
Heritability of factors of the insulin resistance syndrome in women twins. Genet Epidemiol (1997) 0.92
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum Genet (1997) 0.92
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Brain tissue pO2-monitoring in comatose patients: implications for therapy. Neurol Res (1997) 0.91
Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol (1997) 0.91
myc gene amplification and expression in primary human neuroblastoma. Cancer Res (1990) 0.90
Associations of age, adiposity, alcohol intake, menstrual status, and estrogen therapy with high-density lipoprotein subclasses. Arterioscler Thromb (1993) 0.90
Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet (2000) 0.90
Plasma triglyceride and LDL heterogeneity in familial combined hyperlipidemia. Arterioscler Thromb (1993) 0.89
LDL physical and chemical properties in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol (1995) 0.89
Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency. Am J Hum Genet (1999) 0.89
The effects of frequency in pallidal deep brain stimulation for primary dystonia. J Neurol (2003) 0.89
Factors of the insulin resistance syndrome in nondiabetic and diabetic elderly Japanese-American men. Am J Epidemiol (1998) 0.88
Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics (1987) 0.88
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am J Hum Genet (1989) 0.88
Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. Arterioscler Thromb Vasc Biol (1998) 0.87
Cerebral oxygenation in contusioned vs. nonlesioned brain tissue: monitoring of PtiO2 with Licox and Paratrend. Acta Neurochir Suppl (1998) 0.87
Linkage of the cholesteryl ester transfer protein (CETP) gene to LDL particle size: use of a novel tetranucleotide repeat within the CETP promoter. Circulation (2000) 0.86
Linkage analysis of low-density lipoprotein subclass phenotypes and the apolipoprotein B gene. Genet Epidemiol (1991) 0.85
Epidural lipomatosis: case report and literature review. Neuroradiology (1996) 0.85
Temperature-dependent modulation of [3H]nitrendipine binding by the calcium channel antagonists verapamil and diltiazem in rat brain synaptosomes. J Pharmacol Exp Ther (1984) 0.85
Evidence for genetic influences on smoking in adult women twins. Clin Genet (1995) 0.84
ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency. J Clin Lab Anal (1996) 0.84
Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. Am J Med Genet (1996) 0.84
A 21-21 tandem translocation with satellites on both long and short arms. J Med Genet (1974) 0.84
Association of gestational diabetes mellitus and low-density lipoprotein (LDL) particle size. Physiol Res (2007) 0.84
Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy. J Pediatr (2001) 0.84
Low density lipoprotein particle size and risk of early-onset myocardial infarction in women. Am J Epidemiol (2001) 0.84
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med (2001) 0.83
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Multimodal cerebral monitoring in comatose head-injured patients. Acta Neurochir (Wien) (1998) 0.82
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Computerized tomography and prognosis in early aneurysm surgery. J Neurosurg (1986) 0.82
Familial correlations of HDL subclasses based on gradient gel electrophoresis. Arterioscler Thromb (1992) 0.81
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Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis (2003) 0.81
Sib-pair linkage analysis of longitudinal changes in lipoprotein risk factors and lipase genes in women twins. J Lipid Res (2000) 0.81
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Brain phenylalanine concentration in the management of adults with phenylketonuria. J Inherit Metab Dis (2000) 0.81
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Bifrontal measurements of brain tissue-PO2 in comatose patients. Acta Neurochir Suppl (1998) 0.80