DNA duplication associated with Charcot-Marie-Tooth disease type 1A

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

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

1988 • 20,341 citations

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

1989 • 3,458 citations

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

1984 • 2,847 citations

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

1989 • 2,011 citations

Analysis of Human Genetic Linkage.

1992 • 1,770 citations

Variable Number of Tandem Repeat (VNTR) Markers for Human Gene Mapping

1987 • 1,683 citations

Genetic variants and strains of the laboratory mouse

1990 • 1,519 citations

A genetic linkage map of the human genome

1987 • 913 citations

Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

1974 • 874 citations

Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

1987 • 691 citations

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

1951 • 517 citations

Genetic variants and strains of the Laboratory mouse

1996 • 500 citations

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

1956 • 434 citations

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1986 • 387 citations

Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines

1984 • 355 citations

Report of the committee on methods of linkage analysis and reporting

1985 • 325 citations

Analysis of human genetic linkage

1986 • 325 citations

Alpha 3, alpha 5, and beta 4: three members of the rat neuronal nicotinic acetylcholine receptor-related gene family form a gene cluster.

1990 • 303 citations

The Bar "Gene" a Duplication

1936 • 296 citations

Interphase and Metaphase Resolution of Different Distances Within the Human Dystrophin Gene

1990 • 260 citations

A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion

1987 • 230 citations

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

1991 • 226 citations

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1982 • 220 citations

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1989 • 198 citations

Loss of Human Genetic Markers in Man-Chinese Hamster Somatic Cell Hybrids

1971 • 179 citations

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

1990 • 132 citations

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

1986 • 130 citations

Molecular cloning of a human immunoglobulin G Fc receptor.

1988 • 130 citations

A mapped set of DNA markers for human chromosome 15

1988 • 130 citations

Efficient computations in multilocus linkage analysis.

1988 • 117 citations

Isolation and mapping of a polymorphic DNA sequence pYNH24 on chromosome 2 (D2S44)

1987 • 100 citations

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1990 • 91 citations

Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.

1990 • 84 citations

Tandem chromosomal duplications: role of REP sequences in the recombination event at the join-point.

1990 • 82 citations

A simple scheme for the analysis of HLA linkages in pedigrees

1978 • 82 citations

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

1991 • 69 citations

A genetic map of human chromosome 17p

1990 • 68 citations

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

1989 • 66 citations

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

1990 • 64 citations

Genetic analysis of NF1: Identification of close flanking markers on chromosome 17

1987 • 55 citations

Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk

1978 • 55 citations

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

1990 • 51 citations

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1979 • 51 citations

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

1990 • 50 citations

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.

1989 • 47 citations

The cloning of the Bar region and the B breakpoint in Drosophila melanogaster: evidence for a transposon-induced rearrangement.

1989 • 45 citations

Le centre d'étude du polymorphisme humain.

1986 • 44 citations

The polymorphic Fc? receptor II gene maps to human chromosome 1q

1989 • 44 citations

A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17pl3

1986 • 39 citations

De novo partial duplication of 17p [dup(17)(p12→p11.2)]: Clinical report

1986 • 37 citations

Mendelian Inheritance in Man

1991 • 34 citations

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

1990 • 30 citations

Localization of a locus for Charcot-Marie-Tooth neuropathy type la (CMT1A) to chromosome 17

1990 • 27 citations

Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17

1990 • 20 citations

A method to analyze allele-specific methylation.

1990 • 5 citations

TwoMsplRFLPs at the D17S258 locus

1990 • 5 citations

Three polymorphisms at the D17S29 locus

1990 • 5 citations

AnMspI RFLP at the D17S258 locus

1991 • 3 citations

Deleted Work

1955 • 0 citations