Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

Detection of large-scale variation in the human genome

2004 • 2,876 citations

Alu Repeats and Human Disease

1999 • 898 citations

Complex SNP-related sequence variation in segmental genome duplications

2004 • 233 citations

Birth prevalence rates of skeletal dysplasias

1989 • 232 citations

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

1996 • 187 citations

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

2003 • 66 citations

Exon repetition in mRNA

1999 • 57 citations

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

2003 • 55 citations

Dyggve-Melchior-Clausen syndrome.

1990 • 50 citations

Recent advances in Dyggve–Melchior–Clausen syndrome

2004 • 49 citations

The Dyggve-Melchior-Clausen Syndrome

1975 • 45 citations

Exon repetition: a major pathway for processing mRNA of some genes is allele-specific

2004 • 33 citations

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

2002 • 32 citations

DYGGVE‐MELCHIOR‐CLAUSEN DYSPLASIA

1983 • 25 citations

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

2002 • 23 citations

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

2005 • 19 citations

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

2003 • 3 citations