Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Disorders of propionate and methylmalonate metabolism

1982 • 531 citations

A new genetic concept: Uniparental disomy and its potential effect, isodisomy

1980 • 529 citations

Insulin-dependent diabetes mellitus induced in transgenic mice by ectopic expression of class II MHC and interferon-gamma

1988 • 476 citations

Diabetes in transgenic mice resulting from over-expression of class I histocompatibility molecules in pancreatic β cells

1988 • 266 citations

Tumor necrosis factor enhances HLA-A,B,C and HLA-DR gene expression in human tumor cells.

1987 • 248 citations

Particular HLA-DQ molecules play a dominant role in determining susceptibility or resistance to Type 1 (insulin-dependent) diabetes mellitus

1993 • 213 citations

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

1991 • 96 citations

Uniparental disomy revisited: The first twelve years

1993 • 96 citations

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

1988 • 70 citations

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

1990 • 68 citations

Oligotyping of HLA-A2, -A3, and -B44 subtypes detection of subtype incompatibilities between patients and their serologically matched unrelated bone marrow donors

1994 • 56 citations

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: Analysis of dinucleotide polymorphisms on native gels

1991 • 25 citations

Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

1993 • 21 citations

HLA‐B locus DNA typing: Detection of B*7801 and seven additional alleles by BW6‐specific exon 2 amplification

1993 • 16 citations

Congenital 21-hydroxylase deficiency as a new deletion mutation

1992 • 13 citations

Genetic and Physical Map of 11 Short Tandem Repeat Polymorphisms on Human Chromosome 6

1993 • 11 citations

Permanent neonatal diabetes mellitus: A case report with plasma insulin studies

1975 • 9 citations

Molecular Cytogenetics

2005 • 2 citations

HLA-B locus DNA typing: detection of B∗7801 and seven additional alleles by BW6-specific exon 2 amplification

1993 • 1 citations