Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 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

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

1991 • 1,293 citations

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

1985 • 1,207 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1993 • 791 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 gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

1992 • 317 citations

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

1992 • 295 citations

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci

1990 • 152 citations

Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study

1993 • 98 citations

Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms (Part 1 of 27)

1991 • 98 citations

Hereditary neuropathy with liability to pressure palsies

1982 • 94 citations

Report of the committee on the genetic constitution of chromosome 17

1990 • 74 citations

A genetic map of human chromosome 17p

1990 • 68 citations

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

1991 • 61 citations

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1994 • 55 citations

Dinucleotide repeat polymorphism at the CRP locus

1990 • 23 citations

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

1993 • 23 citations

Dinucleotide repeat polymorphism at the D17S514 locus

1991 • 20 citations

Dinucleotide repeat polymorphism at the D17S513 locus

1991 • 18 citations

Dinucleotide repeat polymorphism at the D19S76 locus

1990 • 13 citations

Dinucleotide repeat polymorphism at the D1S117 locus

1991 • 12 citations

Dinucleotide repeat polymorphism at the D1S104 locus

1990 • 10 citations