Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

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2001 • 13,500 citations

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1998 • 1,945 citations

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

2000 • 488 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

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

2000 • 354 citations

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2007 • 306 citations

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

2000 • 301 citations

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2000 • 261 citations

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

1995 • 253 citations

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

2000 • 225 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

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

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

1998 • 176 citations

The Neurofibromatoses : a pathogenetic and clinical overview

1994 • 169 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

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

2000 • 109 citations

Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions

2000 • 108 citations

Neurofibromatosis Type 1:: From Genotype to Phenotype

1998 • 106 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

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs

1997 • 87 citations

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

1997 • 83 citations

Fine mapping of de novo CMT1A and HNPP rearrangements within CMTIA-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

1998 • 81 citations

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1999 • 76 citations

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

1992 • 69 citations

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP

1995 • 61 citations

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

1999 • 58 citations

Neurofibromatosis 1: a clinical and genetic overview.

1994 • 57 citations

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

1996 • 53 citations

A Common Set of at Least 11 Functional Genes Is Lost in the Majority of NF1 Patients with Gross Deletions

2000 • 45 citations

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

1999 • 41 citations

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

1996 • 27 citations