Recombination hotspot in NF1 microdeletion patients

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1994 • 63,397 citations

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1998 • 907 citations

Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

2000 • 488 citations

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

2000 • 354 citations

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

1994 • 204 citations

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

2000 • 197 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

Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients

1998 • 176 citations

Do NF1 gene deletions result in a characteristic phenotype?

1997 • 126 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

Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions

2000 • 108 citations

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

1995 • 102 citations

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

1996 • 99 citations

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

1998 • 91 citations

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1996 • 85 citations

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1999 • 76 citations

Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination

2000 • 71 citations

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

1992 • 69 citations

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

1999 • 63 citations

Neurofibromatosis 1: a clinical and genetic overview.

1994 • 57 citations

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

1997 • 56 citations

Overview of Hereditary Neuropathy with Liability to Pressure Palsies

1999 • 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

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

1997 • 51 citations

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

1999 • 41 citations

Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate

2000 • 38 citations

Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients

1995 • 13 citations