Ectopic (Illegitimate) Transcription: New Possibilities for the Analysis and Diagnosis of Human Genetic Disease

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1988 • 1,140 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Transcription of the dystrophin gene in human muscle and non-muscle tissues

1988 • 733 citations

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF₅₀₈)

1990 • 724 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 550 citations

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1993 • 515 citations

Human gene mutation

1993 • 316 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

1988 • 276 citations

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

1992 • 223 citations

Point mutations in the dystrophin gene.

1992 • 189 citations

Preclinical Diagnosis of Familial Hypertrophic Cardiomyopathy by Genetic Analysis of Blood Lymphocytes

1991 • 186 citations

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.

1989 • 184 citations

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.

1991 • 165 citations

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

1991 • 162 citations

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

1990 • 146 citations

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.

1991 • 138 citations

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.

1991 • 132 citations

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

1989 • 129 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

1992 • 122 citations

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

1991 • 103 citations

Quantitative expression patterns of multidrug‐resistance P‐glycoprotein (MDR1) and differentially spliced cystic‐fibrosis transmembrane‐conductance regulator mRNA transcripts in human epithelia

1992 • 97 citations

Molecular deletion patterns in Duchenne and Becker type muscular dystrophy

1989 • 86 citations

Factor VIII gene explains all cases of haemophilia A

1992 • 84 citations

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

1989 • 82 citations

Illegitimate transcription: Its use in the study of inherited disease

1992 • 77 citations

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1990 • 75 citations

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

1991 • 72 citations

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

1991 • 54 citations

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

1990 • 51 citations

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

1992 • 41 citations

Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

1990 • 39 citations

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

1990 • 39 citations

Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.

1991 • 39 citations

Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

1993 • 36 citations

Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb/IIIa complex

1991 • 36 citations

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations

1993 • 34 citations

Enzymatic Amplification of Myosin Heavy-Chain mRNA SequencesIn Vitro

1988 • 32 citations

Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts

1993 • 32 citations

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis

1992 • 29 citations

Point mutation in a Becker muscular dystrophy patient

1993 • 28 citations

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts

1992 • 27 citations

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.

1990 • 24 citations

Alternative splicing in the first nucleotide binding fold of CFTR

1993 • 24 citations

Illegitimate (or ectopic) transcription proceeds through the usual promoters

1991 • 23 citations

Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus.

1993 • 20 citations

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

1993 • 19 citations

Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria

1992 • 14 citations

Identification of a new DMD gene deletion by ectopic transcript analysis.

1992 • 14 citations

Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females

1991 • 14 citations

Application to the Analysis of Truncated Transcripts of the Dystrophin Gene in Nonmuscle Cultured Cells from Duchenne and Becker Patients

1991 • 8 citations

Alternative splicing of a previously unidentified CFTR exon introduces an in‐frame stop codon 5' of the R region

1993 • 7 citations

Adenosine deaminase deficiency due to heterozygous abnormality consisting of a deletion of exon 7 and the absence of enzyme mRNA

1991 • 6 citations

Response: Are Tissues a Patch Quilt of Ectopic Gene Expression?

1989 • 5 citations

Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue

1992 • 2 citations