Gene defect behind APECED: a new clue to autoimmunity

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Positional cloning of the APECED gene

1997 • 1,385 citations

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1997 • 1,155 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

The PHD finger: Implications for chromatin-mediated transcriptional regulation

1995 • 857 citations

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach.

1991 • 665 citations

Mendelian inheritance in man

1993 • 430 citations

A generalized hidden Markov model for the recognition of human genes in DNA.

1996 • 393 citations

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1994 • 379 citations

Disease gene mapping in isolated human populations: the example of Finland.

1993 • 368 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins

1996 • 278 citations

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1994 • 276 citations

HAT3.1, a novel Arabidopsis homeodomain protein containing a conserved cysteine‐rich region

1993 • 223 citations

Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure.

1996 • 214 citations

Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease.

1993 • 203 citations

Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17α-hydroxylase

1992 • 201 citations

Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease.

1994 • 182 citations

Autoimmune polyendocrinopathy – candidosis – ectodermal dystrophy (APECED): autosomal recessive inheritance

1985 • 180 citations

Adrenal and Steroidal Cell Antibodies in Patients with Autoimmune Polyglandular Disease Type I and Risk of Adrenocortical and Ovarian Failure*

1987 • 179 citations

Anaemia in gastroenterology

2015 • 162 citations

GAD Autoantibodies in IDDM, Stiff-Man Syndrome, and Autoimmune Polyendocrine Syndrome Type I Recognize Different Epitopes

1994 • 160 citations

CHRONIC MUCOCUTANEOUS CANDIDIASIS, DEFICIENCY OF DELAYED

1967 • 145 citations

Autoantibodies against Aromatic<scp>l</scp>-Amino Acid Decarboxylase in Autoimmune Polyendocrine Syndrome Type I¹

1997 • 124 citations

A strategy for the selection of transcribed sequences in the Xq28 region

1992 • 121 citations

Genetic homogeneity of autoimmune polyglandular disease type I.

1996 • 117 citations

Review

1995 • 111 citations

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

1994 • 111 citations

High resolution mapping using fluorescence in situ hybridization to extended DNA fibers prepared from agarose-embedded cells.

1994 • 108 citations

Differential Interaction of Nuclear Receptors with the Putative Human Transcriptional Coactivator hTIF1

1997 • 107 citations

The role of cell-mediated immunity in candidiasis

1994 • 101 citations

HLA Type and Occurrence of Disease in Familial Polyglandular Failure

1978 • 99 citations

Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen.

1995 • 98 citations

Cytochrome P450 1A2 Is a Hepatic Autoantigen in Autoimmune Polyglandular Syndrome Type 1¹

1997 • 97 citations

The Expression of Autoimmune Polyglandular Disease Type I Appears Associated With Several HLA-A Antigens But Not With HLA-DR*

1988 • 93 citations

Schmidt's Syndrome (Thyroid and Adrenal Insufficiency): A Review of the Literature and a Report of Fifteen New Cases Including Ten Instances of Coexistent Diabetes Mellitus

1964 • 76 citations

An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21

1994 • 70 citations

Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries

1995 • 68 citations

Detection of candidal antigens in autoimmune polyglandular syndrome type I

1996 • 66 citations

Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy (APECED)

1996 • 66 citations

Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure

1996 • 63 citations

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH

1997 • 61 citations

Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I

1994 • 61 citations

Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease

1994 • 61 citations

Visual mapping by high resolution FISH

1996 • 56 citations

A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes.

1995 • 35 citations

Rare Disease Genes—Lessons and Challenges

1997 • 19 citations

Genomic clones of the human liver-type phosphofructokinase

1986 • 16 citations

Common promoter features in human and mouse liver type phosphofructokinase gene.

1995 • 9 citations

Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I

1994 • 7 citations

Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED)

2016 • 1 citations