Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity (Q33534079)

27 July 2017

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title

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity (English)

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27 July 2017

Lupski JR

1

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27 July 2017

language of work or name

English

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publication date

1 February 1999

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27 July 2017

number of pages

7

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based on heuristic

inferred from page(s)

published in

Pediatric Research

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27 July 2017

volume

45

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27 July 2017

issue

2

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27 July 2017

page(s)

159-165

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De-novo mutation in hereditary motor and sensory neuropathy type I.

27 July 2017

cites work

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

21 January 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

1 reference

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Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

21 January 2018

1 reference

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A myelin protein is encoded by the homologue of a growth arrest-specific gene

21 January 2018

1 reference

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Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

21 January 2018

1 reference

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

21 January 2018

1 reference

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

21 January 2018

1 reference

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A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies

21 January 2018

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Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

1 reference

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Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies

21 January 2018

1 reference

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Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

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Charcot-Marie-Tooth disease: a gene-dosage effect

21 January 2018

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

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Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

21 January 2018

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The phenotypic manifestations of chromosome 17p11.2 duplication

21 January 2018

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Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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10.1203/00006450-199902000-00001

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

27 July 2017

1064214096

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1 reference