Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

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

1991 • 1,293 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

Mendelian inheritance in man

1993 • 430 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

Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique

1993 • 342 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

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

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

1990 • 230 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

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

1993 • 191 citations

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

1992 • 140 citations

Autosomal recessive forms of hereditary motor and sensory neuropathy.

1980 • 111 citations

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

1990 • 91 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

Analysis of the DNA duplication 17p11.2 in Charcot‐Marie‐Tooth neuropathy type 1 pedigrees

1992 • 63 citations

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

1993 • 43 citations

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

1992 • 40 citations

Autosomal recessive form of hereditary motor and sensory neuropathy type I

1992 • 40 citations

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot‐Marie‐Tooth disease) to markers of chromosomes 1 and 17

1990 • 39 citations

Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

1995 • 19 citations

Alpha 1-antitrypsin: apparent molecular weight heterogeneity shown by two-dimensional electrophoresis.

1982 • 19 citations

Charcot‐marie‐tooth neuropathy related to chromosome 1

1992 • 9 citations

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

1992 • 6 citations