Do NF1 gene deletions result in a characteristic phenotype?

PubWeight™: 1.23‹?› | Rank: Top 10%

🔗 View Article (PMID 9375928)

Published in Am J Med Genet on November 28, 1997

Authors

J H Tonsgard1, K K Yelavarthi, S Cushner, M P Short, V Lindgren

Author Affiliations

1: Department of Pediatrics, University of Chicago, Illinois, USA.

Articles citing this

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet (2000) 3.06

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

Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet (2000) 1.40

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet (2007) 1.10

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet (2000) 1.09

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet (2005) 1.06

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

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

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. Hum Genet (2003) 0.87

Neurofibromatosis of the nipple-areolar area: a case series. J Med Case Rep (2010) 0.81

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1. Invest Ophthalmol Vis Sci (2009) 0.76

Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet (2017) 0.75

Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. Childs Nerv Syst (2011) 0.75

Articles by these authors

Structural and transcriptional analysis of human papillomavirus type 16 sequences in cervical carcinoma cell lines. J Virol (1987) 6.65

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet (1997) 3.95

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83

Schwannomatosis: a clinical and pathologic study. Neurology (1996) 2.82

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet (1996) 2.67

CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology (1998) 2.32

Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer (1995) 2.20

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet (1997) 1.96

Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science (1984) 1.96

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet (1992) 1.84

Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol (1996) 1.52

Local protective effects of nerve growth factor-secreting fibroblasts against excitotoxic lesions in the rat striatum. J Neurosurg (1993) 1.44

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet (1999) 1.40

Human genes for U2 small nuclear RNA map to a major adenovirus 12 modification site on chromosome 17. Nature (1985) 1.30

Tumor necrosis factor alpha mRNA and protein are present in human placental and uterine cells at early and late stages of gestation. Am J Pathol (1991) 1.30

Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and Southern blotting: high-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1. Somat Cell Mol Genet (1984) 1.22

Selective killing of glioma cells in culture and in vivo by retrovirus transfer of the herpes simplex virus thymidine kinase gene. New Biol (1991) 1.22

Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet (1995) 1.21

Tuberous sclerosis. Arch Dermatol (1994) 1.20

Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet (1994) 1.17

Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest (1987) 1.14

Human U1 small nuclear RNA pseudogenes do not map to the site of the U1 genes in 1p36 but are clustered in 1q12-q22. Mol Cell Biol (1985) 1.14

Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med (1996) 1.11

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet (1996) 1.09

Metanephric adenosarcoma in a young adult: morphologic, immunophenotypic, ultrastructural, and fluorescence in situ hybridization analyses: a case report and review of the literature. Am J Surg Pathol (2001) 1.09

Glycerol metabolism in Bacillus subtilis: gene-enzyme relationships. J Bacteriol (1974) 1.08

Gene therapy of malignant brain tumors: a rat glioma line bearing the herpes simplex virus type 1-thymidine kinase gene and wild type retrovirus kills other tumor cells. J Neurosci Res (1992) 1.08

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet (1991) 1.06

Grafting genetically modified cells into the rat brain: characteristics of E. coli beta-galactosidase as a reporter gene. Brain Res Mol Brain Res (1989) 1.03

Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. J Neurosurg (1994) 1.01

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet (1998) 1.00

Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease. Am J Hum Genet (1996) 1.00

Diagnosis of Angelman syndrome in infants. Am J Med Genet (1991) 0.97

Transplantation of a polymer-encapsulated cell line genetically engineered to release NGF. Exp Neurol (1993) 0.97

Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser (1986) 0.93

A clinical study of patients with multiple isolated neurofibromas. J Med Genet (2001) 0.92

Mapping of a genetic locus that affects glycerol 3-phosphate transport in Bacillus subtilis. J Bacteriol (1978) 0.91

An experimental model of retrovirus gene therapy for malignant brain tumors. J Neurosurg (1993) 0.90

Salmonella virchow meningitis in an adult. Scand J Infect Dis (2000) 0.90

Intracerebral implantation of nerve growth factor-producing fibroblasts protects striatum against neurotoxic levels of excitatory amino acids. Neuroscience (1991) 0.88

Bacillus subtilis mutant with temperature-sensitive net synthesis of phosphatidylethanolamine. J Bacteriol (1977) 0.88

Molecular, biochemical, and functional characteristics of tumor necrosis factor-alpha produced by human placental cytotrophoblastic cells. J Immunol (1993) 0.86

Striatal degeneration induced by mitochondrial blockade is prevented by biologically delivered NGF. J Neurosci Res (1993) 0.84

Retrovirus-mediated gene transfer of beta-nerve growth factor into mouse pituitary line AtT-20. Mol Biol Med (1988) 0.84

Somatic cell hybrid mapping of human chromosome band 5q31: a region important to hematopoiesis. Cytogenet Cell Genet (1992) 0.84

Effects of biologically delivered NGF, BDNF and bFGF on striatal excitotoxic lesions. Neuroreport (1993) 0.84

Regulation of the capacity for O6-methylguanine removal from DNA in human lymphoblastoid cells studied by cell hybridization. Mol Cell Biol (1982) 0.83

Molecular identification of CBFbeta-MYH11 fusion transcripts in an AML M4Eo patient in the absence of inv16 or other abnormality by cytogenetic and FISH analyses--a rare occurrence. Leukemia (2003) 0.83

Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol (1998) 0.82

Comparable complex rearrangements involving 8;21 and 9;22 translocations in leukaemia. Nature (1977) 0.81

Interstitial deletion of the short arm of chromosome 3 (3p14). Am J Med Genet (1986) 0.81

Deep sylvian fissure meningioma without dural attachment in an adult: case report. Neurosurgery (1994) 0.81

Brachial plexus myoclonus. J Neurol Neurosurg Psychiatry (1985) 0.81

Recurring structural chromosome abnormalities in peripheral blood lymphocytes of patients with mycosis fungoides/Sézary syndrome. Blood (1997) 0.80

Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet (1987) 0.80

Does tuberin function as a tumor suppressor in the cerebral lesions of tuberous sclerosis? Early observations. Brain Pathol (1996) 0.80

Identification of transforming growth factor-beta 1 mRNA in virgin and pregnant rat uteri by in situ hybridization. J Reprod Immunol (1993) 0.80

Genetic control of the glp system in Bacillus subtilis. J Bacteriol (1976) 0.80

Borrelia antibodies in children evaluated for Lyme neuroborreliosis. Infection (2008) 0.79

Regional assignments of the zinc finger Y-linked gene (ZFY) and related sequences on human and mouse chromosomes. Cytogenet Cell Genet (1990) 0.79

Meropenem versus imipenem/cilastatin in the treatment of intra-abdominal infections. J Antimicrob Chemother (1995) 0.79

Karyotype correlates with peripheral blood morphology and immunophenotype in chronic lymphocytic leukemia. Am J Clin Pathol (1996) 0.78

The pattern and clinical significance of karyotypic abnormalities in patients with idiopathic and postpolycythemic myelofibrosis. Cancer (1985) 0.78

Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]). Am J Med Genet (1990) 0.78

Human fetal astrocytes as an ex vivo gene therapy vehicle for delivering biologically active nerve growth factor. Hum Gene Ther (1997) 0.77

The use of genetically altered astrocytes to provide nerve growth factor to adrenal chromaffin cells grafted into the striatum. Brain Res (1991) 0.77

Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. Fertil Steril (1992) 0.77

Retinoblastoma, chromosome abnormalities and oncogene expression. Ophthalmic Paediatr Genet (1987) 0.77

A child with neurofibromatosis-1 and a lumbar epidural arteriovenous malformation. J Child Neurol (2000) 0.77

Nerve growth factor released by transgenic astrocytes enhances the function of adrenal chromaffin cell grafts in a rat model of Parkinson's disease. Brain Res (1994) 0.76

Neurological dimensions of psychiatry. Biol Psychiatry (1985) 0.76

Molecular genetic screening for children at risk of neurofibromatosis 2. Arch Otolaryngol Head Neck Surg (1995) 0.76

Convenience survey regarding autopsy/organ donation education at the 1999 American Medical Association Annual Meeting. Arch Intern Med (2000) 0.75

Tumorigenic latency and separable stages during fibrosarcoma development in transgenic mice carrying papillomavirus genomes. Princess Takamatsu Symp (1989) 0.75

Hairy cell leukemia: an analysis of the chromosomes of 26 patients. Virchows Arch B Cell Pathol (1978) 0.75

Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. Genomics (1997) 0.75

Cellular aspects of DNA repair. Prog Clin Biol Res (1983) 0.75

Chromosome abnormalities in patients with hairy cell leukemia. Cancer (1978) 0.75

Nosocomial spread of hepatitis B virus (HBV) in a haemodialysis unit confirmed by HBV DNA sequencing. J Hosp Infect (1995) 0.75

A de novo translocation in a family with a balanced reciprocal chromosomal translocation. Clin Genet (1986) 0.75

Effects of GK-101 (NMG) and sodium hypochlorite on salivary amylase activity. J Dent Res (1977) 0.75

Survival and differentiation within the adult mouse striatum of grafted rat pheochromocytoma cells (PC12) genetically modified to express recombinant beta-NGF. Exp Neurol (1991) 0.75

Description of a flow cytometry approach based on SYBR-14 staining for the assessment of DNA content, cell cycle analysis, and sorting of living normal and neoplastic cells. Exp Mol Pathol (2004) 0.75

Dissolution of hydrocortisone. J Pharm Sci (1972) 0.75

Chromosome replication in normal and transformed human lymphocytes. Cancer Genet Cytogenet (1983) 0.75

Chromosome replication in aging human diploid fibroblasts. Exp Cell Res (1982) 0.75

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med (2001) 0.75

Biopharmaceutical aspects of the design of steroidal dosage forms. Pharmazie (1973) 0.75

Some investigations of the effect of a non-ionic surfactant on the diffusion of hydrocortisone across a cellulose acetate membrane. J Pharm Pharmacol (1971) 0.75

The location of chromosome breaks in Bloom's syndrome. Cytogenet Cell Genet (1981) 0.75

Comparison of the in vitro serum microbiological activity of a triple tetracycline tablet, 300 mg B.I.D. with oxytetracyline, 250 mg Q.I.D. J Int Med Res (1981) 0.75

Effect of surfactants on diffusion of drugs across membranes. Nat New Biol (1972) 0.75

A study of the formulation of steroidal suspensions. J Pharm Pharmacol (1972) 0.75