Literature DB >> 8956042

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.

L E Warner1, B B Roa, J R Lupski.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8956042     DOI： 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  7 in total

Review 1.  Charcot-Marie-Tooth disease: lessons in genetic mechanisms.

Authors:  J R Lupski
Journal:  Mol Med       Date:  1998-01       Impact factor: 6.354

2.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

3.  Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.

Authors:  Valerie A Street; Jeff D Goldy; Alana S Golden; Bruce L Tempel; Thomas D Bird; Phillip F Chance
Journal:  Am J Hum Genet       Date:  2001-11-16       Impact factor: 11.025

4.  Unveiling of miRNA Expression Patterns in Purkinje Cells During Development.

Authors:  Lukas Pieczora; Lara Stracke; Matthias Vorgerd; Stephan Hahn; Carsten Theiss; Verena Theis
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

Review 5.  Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.

Authors:  James R Lupski
Journal:  Trends Genet       Date:  2022-04-18       Impact factor: 11.821

Review 6.  Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.

Authors:  Samuel M Lee; Lih-Shen Chin; Lian Li
Journal:  Mol Neurobiol       Date:  2016-01-05       Impact factor: 5.590

7.  A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.

Authors:  Bei-Sha Tang; Wei Luo; Kun Xia; Jian-Feng Xiao; Hong Jiang; Lu Shen; Jian-Guang Tang; Guo-Hua Zhao; Fang Cai; Qian Pan; He-Ping Dai; Qi-Dong Yang; Jia-Hui Xia; Oleg V Evgrafov
Journal:  Hum Genet       Date:  2004-03-12       Impact factor: 4.132
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.