A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

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

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1990 • 1,099 citations

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

1990 • 1,085 citations

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

1990 • 984 citations

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

1990 • 834 citations

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1992 • 399 citations

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1993 • 393 citations

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

1995 • 253 citations

Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas

1997 • 239 citations

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1995 • 239 citations

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1994 • 204 citations

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1996 • 172 citations

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1994 • 169 citations

Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis

1992 • 157 citations

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1993 • 144 citations

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1995 • 108 citations

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

1995 • 102 citations

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1993 • 100 citations

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene

1995 • 99 citations

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

1993 • 88 citations

Familial spinal neurofibromatosis

1991 • 76 citations

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Deletion of the entireNF1 gene causing distinct manifestations in a family

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1995 • 47 citations

RNA processing and clinical variability in neurofibromatosis type I (NF1)

1997 • 47 citations

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

1993 • 45 citations

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

1996 • 38 citations

Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

1996 • 35 citations

Exclusion of the neurofibromatosis 1 locus in a family with inherited café‐au‐lait spots

1993 • 35 citations

Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

1995 • 34 citations

Dinucleotide repeat polymorphism at the D22S268 locus

1993 • 29 citations

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

1996 • 27 citations

Highly polymorphic dinucleotide repeat at the NF2 gene

1995 • 22 citations

A deletion in the 5 ′-region of the neurofibromatosis type 1 (NF1) gene

1994 • 12 citations

Reply from the Authors

1997 • 5 citations