Literature DB >> 9513184

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

J R Lupski1.   

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Year:  1998        PMID： 9513184      PMCID： PMC2230264     

Source DB:  PubMed          Journal:  Mol Med        ISSN： 1076-1551            Impact factor:   6.354


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  48 in total

1.  Interstitial deletion of (17)(p11.2p11.2) in nine patients.

Authors:  A C Smith; L McGavran; J Robinson; G Waldstein; J Macfarlane; J Zonona; J Reiss; M Lahr; L Allen; E Magenis
Journal:  Am J Med Genet       Date:  1986-07

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

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

3.  Trembler mouse carries a point mutation in a myelin gene.

Authors:  U Suter; A A Welcher; T Ozcelik; G J Snipes; B Kosaras; U Francke; S Billings-Gagliardi; R L Sidman; E M Shooter
Journal:  Nature       Date:  1992-03-19       Impact factor: 49.962

4.  Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.

Authors:  K Adlkofer; R Frei; D H Neuberg; J Zielasek; K V Toyka; U Suter
Journal:  J Neurosci       Date:  1997-06-15       Impact factor: 6.167

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

Authors:  J M Vance; G A Nicholson; L H Yamaoka; J Stajich; C S Stewart; M C Speer; W Y Hung; A D Roses; D Barker; M A Pericak-Vance
Journal:  Exp Neurol       Date:  1989-05       Impact factor: 5.330

6.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Authors:  T D Bird; J Ott; E R Giblett
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

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

Authors:  U Suter; J J Moskow; A A Welcher; G J Snipes; B Kosaras; R L Sidman; A M Buchberg; E M Shooter
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-15       Impact factor: 11.205

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

Authors:  P F Chance; T D Bird; N Matsunami; M W Lensch; A R Brothman; G M Feldman
Journal:  Neurology       Date:  1992-12       Impact factor: 9.910

9.  Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; P De Jonghe; J E Hoogendijk; F Baas; D F Barker; J J Martin; M De Visser; P A Bolhuis
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

10.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Authors:  P F Chance; M K Alderson; K A Leppig; M W Lensch; N Matsunami; B Smith; P D Swanson; S J Odelberg; C M Disteche; T D Bird
Journal:  Cell       Date:  1993-01-15       Impact factor: 41.582
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  16 in total

1.  Breaking away from home.

Authors:  L D Hudson
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

2.  Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Authors:  Christine J Shaw; Weimin Bi; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-10-09       Impact factor: 11.025

3.  Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

Authors:  Justine Coppinger; Donna McDonald-McGinn; Elaine Zackai; Kate Shane; Joan F Atkin; Alexander Asamoah; Robert Leland; David D Weaver; Susan Lansky-Shafer; Karen Schmidt; Heidi Feldman; William Cohen; Judy Phalin; Berkley Powell; Blake C Ballif; Aaron Theisen; Elizabeth Geiger; Chad Haldeman-Englert; Tamim H Shaikh; Sulagna Saitta; Bassem A Bejjani; Lisa G Shaffer
Journal:  Hum Mol Genet       Date:  2009-02-03       Impact factor: 6.150

4.  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

5.  Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.

Authors:  Jun Mitsui; Yuji Takahashi; Jun Goto; Hiroyuki Tomiyama; Shunpei Ishikawa; Hiroyo Yoshino; Narihiro Minami; David I Smith; Suzanne Lesage; Hiroyuki Aburatani; Ichizo Nishino; Alexis Brice; Nobutaka Hattori; Shoji Tsuji
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

6.  Hpr1 is preferentially required for transcription of either long or G+C-rich DNA sequences in Saccharomyces cerevisiae.

Authors:  S Chávez; M García-Rubio; F Prado; A Aguilera
Journal:  Mol Cell Biol       Date:  2001-10       Impact factor: 4.272

7.  A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

Authors:  T Rogers; D Chandler; D Angelicheva; P K Thomas; B Youl; I Tournev; V Gergelcheva; L Kalaydjieva
Journal:  Am J Hum Genet       Date:  2000-07-27       Impact factor: 11.025

8.  The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Authors:  K Inoue; K Dewar; N Katsanis; L T Reiter; E S Lander; K L Devon; D W Wyman; J R Lupski; B Birren
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

9.  A model of segmental duplication formation in Drosophila melanogaster.

Authors:  Anna-Sophie Fiston-Lavier; Dominique Anxolabehere; Hadi Quesneville
Journal:  Genome Res       Date:  2007-08-28       Impact factor: 9.043

10.  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
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