DNA Diagnosis of Neurofibromatosis 2

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

1993 • 1,376 citations

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

1993 • 1,360 citations

Neurofibromatosis. Conference statement, National Institute of Health development conference

1988 • 1,240 citations

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

1986 • 524 citations

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

1987 • 470 citations

The Psychological Consequences of Predictive Testing for Huntington’s Disease

1992 • 467 citations

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

1992 • 452 citations

Neurofibromatosis 2

1988 • 438 citations

Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis)

1990 • 415 citations

Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines

1984 • 355 citations

Molecular genetic approach to human meningioma: loss of genes on chromosome 22.

1987 • 322 citations

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1989 • 286 citations

Common Pathogenetic Mechanism for Three Tumor Types in Bilateral Acoustic Neurofibromatosis

1987 • 259 citations

Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability.

1981 • 210 citations

Neurofibromatosis 2: Clinical and DNA Linkage Studies of a Large Kindred

1988 • 162 citations

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

1992 • 160 citations

Should we test children for "adult" genetic diseases?

1990 • 133 citations

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

1990 • 90 citations

Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors.

1992 • 76 citations

Neurofibromatosis type 2 appears to be a genetically homogeneous disease.

1992 • 55 citations

Molecular characterization of chromosome 22 deletions in schwannomas

1992 • 49 citations

Assessment of chromosome 22 anomalies in neurinomas by combined karyotype and RFLP analyses

1990 • 48 citations

New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22

1991 • 32 citations

Loss of chromosome 22 alleles in human sporadic spinal schwannomas

1991 • 22 citations

Parental origin of chromosome 22 loss in sporadic and NF2 neuromas

1991 • 21 citations