Literature DB >> 1486731

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

J R Lupski1.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1486731

Source DB:  PubMed          Journal:  Clin Res        ISSN： 0009-9279


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  12 in total

Review 1.  Chromosomal duplications in bacteria, fruit flies, and humans.

Authors:  J R Lupski; J R Roth; G M Weinstock
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

2.  A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Authors:  M J Kovach; J P Lin; S Boyadjiev; K Campbell; L Mazzeo; K Herman; L A Rimer; W Frank; B Llewellyn; E W Jabs; D Gelber; V E Kimonis
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses.

Authors:  G Nicholson; A Corbett
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-07       Impact factor: 10.154

Review 4.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590

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

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  Detection of tandem duplications and implications for linkage analysis.

Authors:  T C Matise; A Chakravarti; P I Patel; J R Lupski; E Nelis; V Timmerman; C Van Broeckhoven; D E Weeks
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

7.  DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors:  L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

8.  Detection of copy number variation by SNP-allelotyping.

Authors:  Brett Parker; Ryan Alexander; Xingyao Wu; Shawna Feely; Michael Shy; Nathalie Schnetz-Boutaud; Jun Li
Journal:  J Neurogenet       Date:  2014-06-02       Impact factor: 1.250

9.  Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Authors:  J Mortreux; J Bacquet; A Boyer; E Alazard; R Bellance; A G Giguet-Valard; M Cerino; M Krahn; F Audic; B Chabrol; V Laugel; J P Desvignes; C Béroud; K Nguyen; A Verschueren; N Lévy; S Attarian; V Delague; C Missirian; N Bonello-Palot
Journal:  J Hum Genet       Date:  2019-12-18       Impact factor: 3.172

10.  Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

Authors:  P Mandich; R James; S Nassani; R Defferrari; E Bellone; G Mancardi; A Schenone; M Abbruzzese; M Rocchi; F Ajmar
Journal:  J Neurol       Date:  1995-05       Impact factor: 4.849
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