Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

A new nomenclature for the laminins

1994 • 753 citations

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa

1991 • 511 citations

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.

1989 • 367 citations

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

1994 • 339 citations

Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

1994 • 309 citations

Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair.

1994 • 282 citations

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment.

1992 • 239 citations

A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

1994 • 229 citations

A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

1995 • 180 citations

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

1995 • 170 citations

PRENATAL DIAGNOSIS OF EPIDERMOLYSIS BULLOSA LETALIS

1980 • 168 citations

Prenatal Diagnosis and Screening

1993 • 167 citations

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1990 • 159 citations

Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa.

1991 • 157 citations

Hemidesmosome Heterogeneity in Junctional Epidermolysis Bullosa Revealed by Morphometric Analysis

1986 • 144 citations

Altered Laminin 5 Expression Due to Mutations in the Gene Encoding the β3 Chain (LAMB3) in Generalized Atrophic Benign Epidermolysis Bullosa

1995 • 137 citations

Molecular Basis of the Dystrophic and Junctional Forms of Epidermolysis Bullosa: Mutations in the Type VII Collagen and Kalinin (Laminin 5) Genes

1994 • 136 citations

Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa

1994 • 135 citations

The complete primary structure for a novel laminin chain, the laminin B1k chain

1994 • 127 citations

Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa

1985 • 89 citations

Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

1986 • 88 citations

Identification of a Homozygous One-Basepair Deletion in Exon 14 of the LAMB3 in a Patient with Herlitz Junctional Epidermolysis Bullosa and Prenatal Diagnosis in a Family at Risk for Recurrence

1995 • 78 citations

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

1994 • 75 citations

Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3)

1995 • 64 citations

Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody

1987 • 62 citations

Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

1995 • 61 citations

Ultrastructural Clues to Genetic Disorders of Skin: The Dermal-Epidermal Junction

1994 • 58 citations

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

1995 • 49 citations

Nicein (BM-600) in Junctional Epidermolysis Bullosa: Polyclonal Antibodies Provide New Clues for Pathogenic Role

1993 • 39 citations

DNA-Based Prenatal Diagnosis of Heritable Skin Diseases

1993 • 38 citations

Ultrastructural Clues to Genetic Disorders of Skin: The Dermal-Epidermal Junction.

1994 • 31 citations

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

1994 • 30 citations

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

1994 • 30 citations

The Genes for Nicein/Kalinin 125- and 100-kDa Subunits, Candidates for Junctional Epidermolysis Bullosa, Map to Chromosomes 1q32 and 1q25-q31

1994 • 30 citations

Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy.

1984 • 23 citations

DNA-based prenatal diagnosis of heritable skin diseases

1993 • 11 citations