Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.

PubWeight™: 2.32‹?› | Rank: Top 2%

🔗 View Article (PMID 2888021)

Published in Nature on October 19, 1987

Authors

G A Rouleau, W Wertelecki, J L Haines, W J Hobbs, J A Trofatter, B R Seizinger, R L Martuza, D W Superneau, P M Conneally, J F Gusella

Articles citing this

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet (1989) 4.42

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet (1992) 3.63

Submembranous junctional plaque proteins include potential tumor suppressor molecules. J Cell Biol (1993) 2.87

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

Neurofibromatosis type 2. Lancet (2009) 2.24

Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis (2009) 2.00

Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet (1988) 1.80

High frequency of inactivating mutations in the neurofibromatosis type 2 gene (NF2) in primary malignant mesotheliomas. Proc Natl Acad Sci U S A (1995) 1.76

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet (1996) 1.70

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet (1992) 1.62

Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet (1996) 1.52

Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Proc Natl Acad Sci U S A (1990) 1.36

Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol (1995) 1.32

Magnetic resonance findings of neurofibromatosis type 2: a case report. Cases J (2009) 1.27

Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. J Neurol Neurosurg Psychiatry (1997) 1.26

Distal deletion of chromosome Ip in ductal carcinoma of the breast. Am J Hum Genet (1989) 1.25

Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. Am J Hum Genet (1992) 1.23

Neurofibromatosis type 2. J Med Genet (2000) 1.22

The ninth Gordon Hamilton-Fairley memorial lecture. Hereditary cancers: clues to mechanisms of carcinogenesis. Br J Cancer (1989) 1.22

Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child (1999) 1.20

Neurofibromatosis type 2 appears to be a genetically homogeneous disease. Am J Hum Genet (1992) 1.07

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet (1990) 1.04

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. J Med Genet (2002) 1.00

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. J Med Genet (1997) 1.00

Loss of distinct regions on the short arm of chromosome 17 associated with tumorigenesis of human astrocytomas. Proc Natl Acad Sci U S A (1989) 0.99

Molecular mechanisms of cancer. West J Med (1991) 0.95

Neurofibromatosis with gastrointestinal stromal tumors: insights into the association. Dig Dis Sci (2004) 0.93

Recent developments in the diagnosis and management of neurofibromatosis. Arch Dis Child (1989) 0.92

Ocular fundus in neurofibromatosis type 2. Br J Ophthalmol (1993) 0.90

Lens opacities in neurofibromatosis 2: further significant correlations. Br J Ophthalmol (1993) 0.88

Clinical and genetic patterns of neurofibromatosis 1 and 2. Br J Ophthalmol (1993) 0.87

Parental exposure to pesticides and childhood brain cancer: U.S. Atlantic coast childhood brain cancer study. Environ Health Perspect (2009) 0.85

Hereditary genodermatoses with cancer predisposition. Hematol Oncol Clin North Am (2010) 0.83

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet (1995) 0.82

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2. J Pathol (2002) 0.81

Adrenal medullary tumors and iris proliferation in a transgenic mouse model of neurofibromatosis. Am J Pathol (1992) 0.79

Neurofibromatosis type 2 protein, NF2: an uncoventional cell cycle regulator. Anticancer Res (2013) 0.76

Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting. Am J Hum Genet (1990) 0.75

Extracellular vesicles derived from human vestibular schwannomas associated with poor hearing damage cochlear cells. Neuro Oncol (2016) 0.75

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling. Am J Hum Genet (2017) 0.75

1989 Allen Award address: the American Society of Human Genetics annual meeting, Baltimore. Am J Hum Genet (1990) 0.75

The neurosurgical aspects of neurofibromatosis 2: diagnosis and management. Neurosurg Rev (1998) 0.75

Articles by these authors

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science (1993) 33.32

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA (1997) 17.88

A polymorphic DNA marker genetically linked to Huntington's disease. Nature (1984) 16.71

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology (1993) 14.54

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science (2009) 13.45

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46

Construction of a GT polymorphism map of human 9q. Genomics (1992) 8.92

Linkage group I: the simultaneous estimation of recombination and interference. Birth Defects Orig Artic Ser (1976) 8.63

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (1987) 8.29

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro (1984) 7.23

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet (1994) 7.07

Linkage analysis in man. Adv Hum Genet (1980) 6.64

Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet (1998) 6.04

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

Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet (1985) 5.61

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

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83

Conditionally replicating herpes simplex virus mutant, G207 for the treatment of malignant glioma: results of a phase I trial. Gene Ther (2000) 4.33

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16

CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA (1997) 4.00

A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet (2008) 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

Meningioma: analysis of recurrence and progression following neurosurgical resection. J Neurosurg (1985) 3.73

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell (1987) 3.60

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59

The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet (2000) 3.58

Induction of the growth inhibitor IGF-binding protein 3 by p53. Nature (1995) 3.55

Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51

LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Mol Psychiatry (2007) 3.49

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med (1991) 3.45

Alcoholism susceptibility loci: confirmation studies in a replicate sample and further mapping. Alcohol Clin Exp Res (2000) 3.42

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40

Attenuated multi-mutated herpes simplex virus-1 for the treatment of malignant gliomas. Nat Med (1995) 3.37

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature (1988) 3.27

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24

Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12

Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet (1999) 3.11

An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet (1999) 3.07

ApoE-4 and age at onset of Alzheimer's disease: the NIMH genetics initiative. Neurology (1997) 3.04

DNA markers for nervous system diseases. Science (1984) 3.02

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

Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83

Huntington disease: genetics and epidemiology. Am J Hum Genet (1984) 2.81

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

Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79

Huntington's disease. Pathogenesis and management. N Engl J Med (1986) 2.77

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

A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol (1997) 2.64

Replication-selective virotherapy for cancer: Biological principles, risk management and future directions. Nat Med (2001) 2.64

A DNA segment encoding two genes very tightly linked to Huntington's disease. Science (1987) 2.63

Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet (1980) 2.51

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51

Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis. Neurology (2004) 2.50

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45

Prediction of level of serotonin 2A receptor binding by serotonin receptor 2A genetic variation in postmortem brain samples from subjects who did or did not commit suicide. Am J Psychiatry (1999) 2.45

Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment. J Neurosci (2001) 2.43

Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology (2006) 2.38

Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J Med Genet (1988) 2.37

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA (2001) 2.36

Head injury and the risk of AD in the MIRAGE study. Neurology (2000) 2.34

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet (1994) 2.33

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. Science (1997) 2.30

Clustering of multiallele DNA markers near the Huntington's disease gene. J Clin Invest (1989) 2.25

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

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology (2008) 2.16

Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med (2001) 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

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA (2000) 2.08

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet (1986) 2.07

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet (1993) 2.07