Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients

1990 • 1,471 citations

The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2

1997 • 1,247 citations

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

1990 • 1,085 citations

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1986 • 628 citations

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

1989 • 504 citations

Loss of The Normal NF1 Allele from the Bone Marrow of Children with Type 1 Neurofibromatosis and Malignant Myeloid Disorders

1994 • 456 citations

Molecular genetics of neurofibromatosis type 1 (NF1).

1996 • 370 citations

Contiguous gene syndromes: A component of recognizable syndromes

1986 • 339 citations

The effects of storage of blood and isolated DNA on the integrity of DNA

1987 • 275 citations

Genomic organization of the neurofibromatosis 1 gene (NF1)

1995 • 239 citations

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

1996 • 234 citations

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

1990 • 204 citations

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

1994 • 204 citations

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

1995 • 183 citations

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci

1990 • 152 citations

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

1992 • 129 citations

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

1997 • 118 citations

Somatic mosaicism in a patient with neurofibromatosis type 1.

1996 • 110 citations

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

1994 • 107 citations

Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations

1995 • 102 citations

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)

1991 • 101 citations

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

1996 • 99 citations

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

1992 • 96 citations

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1993 • 80 citations

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene

1994 • 77 citations

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.

1993 • 76 citations

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

1993 • 73 citations

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

1992 • 69 citations

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

1997 • 56 citations

Deletion of the entireNF1 gene causing distinct manifestations in a family

1997 • 54 citations

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

1996 • 53 citations

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion

1997 • 53 citations

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients

1997 • 51 citations

Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

1995 • 46 citations

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1993 • 45 citations

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

1995 • 44 citations

Direct construction of a chromosome-specificNotI linking library from flow-sorted chromosomes

1989 • 41 citations

An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

1994 • 41 citations

Refined physical and genetic mapping of the NF1 region on chromosome 17.

1989 • 35 citations

A 90 kb DNA deletion associated with neurofibromatosis type 1.

1990 • 30 citations

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

1993 • 28 citations

A compound nucleotide repeat in the neurofibro-matosis (NF1) gene

1993 • 23 citations

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

1991 • 17 citations

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant

1995 • 16 citations

A PCR‐based test for a polymorphism within the human NF1 gene

1994 • 10 citations

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

1995 • 8 citations

Two single base polymorphisms in introns 41 and 16 of the NF1 gene

1995 • 5 citations

A multiplex-PCR test for EVI2A and EVI2B polymorphisms within the human NF1 gene

1996 • 1 citations