Literature DB >> 20204443

X-linked CMT: genes and gene loci in an Australian cohort.

Megan Hwa Brewer, Rabia Chaudhry, Keta McDowall, Shannon Chu, Bartosz Kowalski, Patsie Polly, Garth Nicholson, Marina Kennerson.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20204443     DOI： 10.1007/s10048-010-0238-5

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


× No keyword cloud information.
  11 in total

1.  A combined linkage-physical map of the human genome.

Authors:  X Kong; K Murphy; T Raj; C He; P S White; T C Matise
Journal:  Am J Hum Genet       Date:  2004-10-14       Impact factor: 11.025

2.  Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Authors:  Marina L Kennerson; Trent Warburton; Eva Nelis; Megan Brewer; Patsie Polly; Peter De Jonghe; Vincent Timmerman; Garth A Nicholson
Journal:  Clin Chem       Date:  2007-01-02       Impact factor: 8.327

3.  A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

Authors:  H-J Kim; S H Hong; C-S Ki; B-J Kim; J-S Shim; S-H Cho; J-H Park; J-W Kim
Journal:  Neurology       Date:  2005-06-14       Impact factor: 9.910

4.  Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

Authors:  V V Ionasescu; J Trofatter; J L Haines; A M Summers; R Ionasescu; C Searby
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

5.  Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.

Authors:  I G Huttner; M L Kennerson; S W Reddel; D Radovanovic; G A Nicholson
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

6.  Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Authors:  E Nelis; C Van Broeckhoven; P De Jonghe; A Löfgren; A Vandenberghe; P Latour; E Le Guern; A Brice; M L Mostacciuolo; F Schiavon; F Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; P Mandich; E Bellone; K Silander; M L Savontaus; R Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

7.  Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Authors:  Megan Brewer; Febriani Changi; Anthony Antonellis; Kurt Fischbeck; Patsie Polly; Garth Nicholson; Marina Kennerson
Journal:  Neurogenetics       Date:  2008-05-06       Impact factor: 2.660

8.  X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

Authors:  F S Cowchock; S W Duckett; L J Streletz; L J Graziani; L G Jackson
Journal:  Am J Med Genet       Date:  1985-02

9.  Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Authors:  Hee-Jin Kim; Kwang-Min Sohn; Michael E Shy; Karen M Krajewski; Miok Hwang; June-Hee Park; Sue-Yon Jang; Hong-Hee Won; Byung-Ok Choi; Sung Hwa Hong; Byoung-Joon Kim; Yeon-Lim Suh; Chang-Seok Ki; Soo-Youn Lee; Sun-Hee Kim; Jong-Won Kim
Journal:  Am J Hum Genet       Date:  2007-06-29       Impact factor: 11.025

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

Authors:  J Bergoffen; S S Scherer; S Wang; M O Scott; L J Bone; D L Paul; K Chen; M W Lensch; P F Chance; K H Fischbeck
Journal:  Science       Date:  1993-12-24       Impact factor: 47.728
View more
  1 in total

1.  A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Authors:  Yingdi Liu; Jinjie Xue; Zhuo Li; Siyuan Linpeng; Hu Tan; Yanling Teng; Desheng Liang; Lingqian Wu
Journal:  Mol Genet Genomic Med       Date:  2020-01-14       Impact factor: 2.183
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.