Human chromosome 21: genome mapping and exploration, circa 1993

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1991 • 4,533 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

A polymorphic DNA marker genetically linked to Huntington's disease

1983 • 2,329 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

Cloning of Large Segments of Exogenous DNA into Yeast by Means of Artificial Chromosome Vectors

1987 • 1,517 citations

Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type

1990 • 1,361 citations

Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

1991 • 1,191 citations

A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease

1991 • 1,121 citations

Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14

1992 • 941 citations

A Common Language for Physical Mapping of the Human Genome

1989 • 876 citations

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

1992 • 725 citations

Radiation Hybrid Mapping: A Somatic Cell Genetic Method for Constructing High-Resolution Maps of Mammalian Chromosomes

1990 • 630 citations

Centre d'Etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome

1990 • 595 citations

Chiasma Frequency and Maternal Age in Mammals

1968 • 439 citations

Continuum of overlapping clones spanning the entire human chromosome 21q

1992 • 393 citations

Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity

1991 • 373 citations

New method for mapping genes in human chromosomes

1975 • 356 citations

Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

1991 • 278 citations

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

1990 • 241 citations

Molecular genetic approach to the characterization of the ?Down syndrome region? of chromosome 21

1989 • 195 citations

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

1992 • 194 citations

Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.

1990 • 187 citations

Evidence for Reduced Recombination on the Nondisjoined Chromosomes 21 in Down Syndrome

1987 • 186 citations

Trisomy 21: association between reduced recombination and nondisjunction.

1991 • 169 citations

Further studies on bivalent chiasma frequency in human males with normal karyotypes

1985 • 160 citations

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

1993 • 147 citations

Genetic linkage map of human chromosome 21

1988 • 125 citations

A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis

1991 • 124 citations

Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.

1990 • 113 citations

Yeast artificial chromosomes: tools for mapping and analysis of complex genomes

1990 • 110 citations

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

1992 • 97 citations

Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations

1988 • 89 citations

Isolation of chromosome 21–specific yeast artificial chromosomes from a total human genome library

1992 • 88 citations

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

1991 • 87 citations

β satellite DNA: Characterization and localization of two subfamilies from the distal and proximal short arms of the human acrocentric chromosomes

1992 • 86 citations

A genetic linkage map of 17 markers on human chromosome 21

1989 • 74 citations

A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age.

1992 • 70 citations

A molecular genetic approach to the identification of isochromosomes of chromosome 21

1991 • 62 citations

Current trends in mapping human genes

1991 • 62 citations

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

1990 • 61 citations

Isochromosome not translocation in trisomy 21q21q

1989 • 38 citations

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

1991 • 35 citations

Parental origin determination in thirty de novo Robertsonian translocations

1992 • 34 citations

A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14.

1992 • 32 citations

Report of the Second International Workshop on Human Chromosome 21 Mapping (1991)

1991 • 29 citations

Translocation Down syndrome in Ohio 1970-1981: epidemiologic and cytogenetic factors and mutation rate estimates.

1986 • 16 citations

Genomic clones of the human liver-type phosphofructokinase

1986 • 16 citations

Third international workshop on human chromosome 21

1992 • 12 citations