Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones

1990 • 1,357 citations

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

1991 • 1,293 citations

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

1974 • 874 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 citations

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1991 • 587 citations

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 • 497 citations

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

1992 • 422 citations

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1992 • 385 citations

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 • 383 citations

Hereditary motor and sensory neuropathies.

1991 • 348 citations

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1993 • 325 citations

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1994 • 313 citations

Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

1992 • 295 citations

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1992 • 280 citations

Analysis of genes and chromosomes by nonisotopic in situ hybridization

1991 • 240 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

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

1989 • 198 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

1993 • 191 citations

Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

1994 • 162 citations

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1993 • 154 citations

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 • 126 citations

Uniform slowing of conduction velocities in Charcot‐Marie‐Tooth polyneuropathy type 1

1993 • 107 citations

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

1992 • 89 citations

Inherited Primary Peripheral Neuropathies

1993 • 83 citations

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

1995 • 69 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

Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A

1993 • 54 citations

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2?12

1993 • 46 citations

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1993 • 43 citations

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

1986 • 37 citations

Trisomy of the short arm of chromosome 17

1974 • 36 citations

Case of Progressive Neural Muscular Atrophy (Peroneal or Charcot-Marie-Tooth Type) in Which the Upper Limbs are also Affected

1924 • 34 citations

Molecular Genetics of Charcot-Marie-Tooth Neuropathy

1994 • 31 citations

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

1991 • 29 citations

A case of partial trisomy 17 resulting from X-autosomal translocation.

1979 • 26 citations

Trisomy 17p11-pter

1995 • 24 citations

An extra small metacentric chromosome identified as a deleted chromosome No. 17

1976 • 23 citations

The dup(17p) syndrome

1982 • 22 citations

De novo tandem duplication 17p11->cen

1983 • 22 citations

Partial duplication of 17p

1979 • 22 citations

Duplication (17p) in a child with an isodicentric (17p) chromosome

1983 • 17 citations

Pure trisomy 17p in 60% of cells

1979 • 16 citations

Trisomy 17p due to A t(5;17) (p15;p11) pat translocation.

1982 • 15 citations

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1993 • 10 citations