A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

The History and Geography of Human Genes

2018 • 3,334 citations

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

Mutation of human short tandem repeats

1993 • 1,584 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

Organ-Specific Disease Provoked by Systemic Autoimmunity

1996 • 880 citations

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

1994 • 379 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

The Thyrotropin Receptor in Thyroid Diseases

1997 • 246 citations

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

1992 • 201 citations

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

1985 • 180 citations

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

1997 • 124 citations

Loss of Heterozygosity or: How I Learned to Stop Worrying and Love Mitotic Recombination

1997 • 119 citations

Genetic homogeneity of autoimmune polyglandular disease type I.

1996 • 117 citations

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

1997 • 97 citations

Molecular characterization of beta-thalassemia in the Sardinian population.

1992 • 96 citations

Nueva Angiología, nuevas perspectivas

2001 • 59 citations

“Mistakes Happen”: Somatic Mutation and Disease

1997 • 53 citations

H GENE THEORY OF INHERITED AUTOIMMUNE DISEASE

1980 • 41 citations

Estimating the Age of Mutant Disease Alleles Based on Linkage Disequilibrium

1997 • 30 citations

Mutations of thyrotropin receptor gene

1997 • 21 citations

HLA-DQB1∗0305 and −DQB1∗0304 alleles among Sardinians Evolutionary and practical implications for oligotyping

1994 • 16 citations

Sardinia: A Battlefield Approach to Type I Diabetes Epidemiology

1997 • 11 citations