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

Neurofibromatosis

1988 • 1,477 citations

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

1990 • 1,471 citations

Neurofibromatosis. Conference statement, National Institute of Health development conference

1988 • 1,240 citations

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1990 • 1,107 citations

The neurofibromatosis type 1 gene encodes a protein related to GAP

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

Neurofibromatosis, Phenotype, Natural History, and Pathogenesis

1992 • 789 citations

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1990 • 684 citations

Noonan syndrome: A review

1985 • 455 citations

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

1993 • 393 citations

cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product

1991 • 391 citations

Multiple Lentigenes Syndrome

1969 • 325 citations

A suggested nomenclature for designating mutations

1993 • 317 citations

Multiple lentigines syndrome

1976 • 192 citations

Neurofibromatosis—phenotype, natural history and pathogenesis

1987 • 143 citations

Characterization of full-length neurofibromin: tubulin inhibits Ras GAP activity.

1993 • 128 citations

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

1991 • 102 citations

Progressive Cardiomyopathic Lentiginosis<xref ref-type="fn" rid="fn1"><sup>1</sup></xref>

1972 • 91 citations

Type 1 neurofibromatosis and the pediatric patient

1992 • 89 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

The leopard (multiple lentigines) syndrome revisited

1971 • 79 citations

Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

1992 • 72 citations

An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

1993 • 68 citations

Electrocardiographs Abnormalities in a Family with Generalized Lentigo

1966 • 59 citations

Lentiginosis Profusa Syndrome (Multiple Lentigines Syndrome)

1971 • 53 citations

Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard Syndrome

1992 • 34 citations

`Little Leopard' Syndrome: Description of 3 Cases and Review of 24

1971 • 29 citations

Cardiac abnormalities in neurofibromatosis.

1988 • 21 citations