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Chromosomal haplotypes by genetic phasing of human families.
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.
An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.
Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
Genetic linkage of hyper-IgE syndrome to chromosome 4.
Tracing the origin of HLA-DRB1 alleles by microsatellite polymorphism.
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.