Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

Epidemiology of neurofibromatosis type 1

1999 • 522 citations

A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis

1956 • 499 citations

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

1994 • 456 citations

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

1993 • 384 citations

Neurofibromatosis: Clinical heterogeneity

1982 • 321 citations

Schwannomatosis

1996 • 232 citations

Germ line mosaicism

1998 • 221 citations

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

1994 • 204 citations

The Neurofibromatoses. A pathogenetic and clinical overview

1994 • 188 citations

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1998 • 179 citations

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1996 • 172 citations

Neurofibromatosis type 1 and pregnancy

1996 • 169 citations

The Neurofibromatoses : a pathogenetic and clinical overview

1994 • 169 citations

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

1992 • 157 citations

A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis

1957 • 127 citations

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

1999 • 127 citations

Do NF1 gene deletions result in a characteristic phenotype?

1997 • 126 citations

Noonan phenotype associated with neurofibromatosis

1985 • 125 citations

Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1997 • 123 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

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

1988 • 107 citations

Neurofibromatosis Type 1:: From Genotype to Phenotype

1998 • 106 citations

Neurofibromatosis: Phenotype, Natural History, and Pathogenesis

1993 • 105 citations

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

1991 • 102 citations

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

1995 • 102 citations

Segmental neurofibromatosis: Case reports and review

1997 • 97 citations

Neurofibromatosis

1992 • 91 citations

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

1998 • 91 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

What is segmental neurofibromatosis?

1994 • 84 citations

Patterns of hematopoietic lineage involvement in children with neurofibromatosis type 1 and malignant myeloid disorders

1996 • 82 citations

Familial spinal neurofibromatosis

1991 • 76 citations

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

1992 • 69 citations

Hereditary spinal neurofibromatosis: a rare form of NF1?

1997 • 68 citations

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

1998 • 66 citations

Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

1995 • 62 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

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

1997 • 53 citations

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

1996 • 53 citations

Autosomal dominant multiple café‐au‐lait spots and neurofibromatosis‐1: Evidence of non‐linkage

1993 • 52 citations

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

1997 • 51 citations

Familial cafe au lait spots: a variant of neurofibromatosis type 1.

1995 • 47 citations

Neurofibromatosis-Noonan syndrome

1998 • 46 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

A distinctive facial appearance in neurofibromatosis von recklinghausen

1985 • 40 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

Epidemiology of neurofibromatosis type 1

1999 • 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

Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: A new dominant syndrome

1998 • 29 citations

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome

1996 • 27 citations

Nosological Considerations of the Neurofibromatoses

1992 • 18 citations