A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

COLLAGENS: Molecular Biology, Diseases, and Potentials for Therapy

1995 • 1,599 citations

High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones

1990 • 1,357 citations

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates.

1994 • 1,043 citations

Effective amplification of long targets from cloned inserts and human genomic DNA.

1994 • 646 citations

Collagen fibrillogenesis in vitro: interaction of types I and V collagen regulates fibril diameter

1990 • 570 citations

Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.

1992 • 551 citations

Isolation of an Active Human Transposable Element

1991 • 433 citations

Origin of the human L1 elements: Proposed progenitor genes deduced from a consensus DNA sequence

1987 • 312 citations

McKusick's heritable disorders of connective tissue

1993 • 275 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes

1992 • 251 citations

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion

1994 • 226 citations

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

1995 • 217 citations

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.

1985 • 217 citations

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1995 • 159 citations

Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues.

1994 • 156 citations

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.

1979 • 156 citations

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

1994 • 134 citations

BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes

1976 • 124 citations

Selective amplification of cDNA sequence from total RNA by cassette-ligation mediated polymerase chain reaction (PCR): Application to sequencing 6·5 kb genome segment of hantavirus strain B-1

1992 • 123 citations

Characterization of the translocation breakpoint sequences of two DEK‐CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET‐CAN fusion gene found in a case of acute undifferentiated leukemia

1992 • 115 citations

Hypomelanosis of Ito: A Description, Not a Diagnosis

1994 • 109 citations

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers–Danlos syndrome type VI

1992 • 106 citations

Chromosome mosaicism in hypomelanosis of Ito

1990 • 103 citations

Complete primary structure of human collagen alpha 1 (V) chain

1991 • 92 citations

The pro-alpha 1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha 1(XI) collagen chain.

1991 • 82 citations

Complete Structural Organization of the Human α1(V) Collagen Gene (COL5A1): Divergence from the Conserved Organization of Other Characterized Fibrillar Collagen Genes

1995 • 63 citations

Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1995 • 45 citations

Human collagen gene COL5A1 maps to the q34.2→q34.3 region of chromosome 9, near the locus for nail-patella syndrome

1992 • 42 citations

Structural Organization and Genetic Localization of the Human Bone Morphogenetic Protein 1/Mammalian Tolloid Gene

1995 • 38 citations

Hypomelanosis of Ito. Case Report with Involvement of the Central Nervous System and Review of the Literature

1984 • 35 citations

COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II

1995 • 34 citations