Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

Estimate of the Mutation Rate per Nucleotide in Humans

2000 • 1,227 citations

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I

1996 • 540 citations

Bloom’s Syndrome

1995 • 422 citations

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

1995 • 367 citations

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1996 • 276 citations

Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion

1997 • 263 citations

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1996 • 229 citations

Genome-wide non-mendelian inheritance of extra-genomic information in Arabidopsis

2005 • 222 citations

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

1999 • 212 citations

In vivo reversion to normal of inherited mutations in humans

2003 • 182 citations

Cloning of type XVII collagen. Complementary and genomic DNA sequences of mouse 180-kilodalton bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembrane segment, and unusual features in the 5‘-end of the gene and the 3‘-untranslated region of the mRNA.

1993 • 175 citations

Generalized Atrophic Benign Epidermolysis Bullosa

1982 • 174 citations

180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.

1995 • 170 citations

Self-induced correction of the genetic defect in tyrosinemia type I.

1994 • 170 citations

Epidermolysis Bullosa. Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry

2000 • 147 citations

An Inducible Mouse Model for Epidermolysis Bullosa Simplex

2001 • 145 citations

Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes.

1977 • 142 citations

Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

1995 • 134 citations

GT Repeats Are Associated with Recombination on Human Chromosome 22

2000 • 127 citations

Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry

2000 • 123 citations

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

1997 • 114 citations

Gene conversions and their relation to homologous chromosome pairing

1986 • 112 citations

Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium.

1991 • 110 citations

Characterization of the Anti-BP180 Autoantibody Reactivity Profile and Epitope Mapping in Bullous Pemphigoid Patients11Tables 1, 2, 3 and 5 can be found at http://www.blackwellpublishing.com/products/journals/suppmat/jid/jid22126/jid22126sm.htm

2004 • 89 citations

Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings

2003 • 86 citations

Focal Activation of a Mutant Allele Defines the Role of Stem Cells in Mosaic Skin Disorders

2001 • 73 citations

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

1999 • 73 citations

Counting and Sizing of Epidermal Cells in Normal Human Skin

1978 • 71 citations

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia

2003 • 66 citations

Novel Mechanism of Revertant Mosaicism in Dowling–Meara Epidermolysis Bullosa Simplex

2004 • 63 citations

Cyclin B‐dependent kinase and caspase‐1 activation precedes mitochondrial dysfunction in fumarylacetoacetate‐induced apoptosis

1999 • 60 citations

Generalized Atrophic Benign Epidermolysis Bullosa

1996 • 59 citations

Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency

1996 • 59 citations

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

1999 • 58 citations

Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family

2004 • 40 citations

Natural repair mechanisms in correcting pathogenic mutations in inherited skin disorders

2003 • 32 citations

Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

2005 • 29 citations

No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients

2004 • 8 citations