Literature DB >> 8981968

Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

S Bort, F Martínez, F Palau.   

Abstract

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Year:  1997        PMID： 8981968      PMCID： PMC1712552     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Authors:  J Lopes; E LeGuern; R Gouider; S Tardieu; N Abbas; N Birouk; M Gugenheim; P Bouche; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Authors:  I P Blair; J Nash; M J Gordon; G A Nicholson
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

3.  A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings.

Authors:  F Reisecker; F Leblhuber; R Lexner; G Radner; W Rosenkranz; K Wagner
Journal:  Neurology       Date:  1994-04       Impact factor: 9.910

4.  Genetic aspects of hereditary motor and sensory neuropathy (types I and II).

Authors:  A E Harding; P K Thomas
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

5.  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

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

Authors:  L T Reiter; T Murakami; T Koeuth; L Pentao; D M Muzny; R A Gibbs; J R Lupski
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

7.  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

8.  Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

Authors:  H Kiyosawa; M W Lensch; P F Chance
Journal:  Hum Mol Genet       Date:  1995-12       Impact factor: 6.150

9.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Authors:  F Palau; A Löfgren; P De Jonghe; S Bort; E Nelis; T Sevilla; J J Martin; J Vilchez; F Prieto; C Van Broeckhoven
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

10.  Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

Authors:  P F Chance; N Abbas; M W Lensch; L Pentao; B B Roa; P I Patel; J R Lupski
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  3 in total

1.  Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Authors:  Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Ko-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2003-04-09       Impact factor: 11.025

2.  Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

Authors:  J M Amos-Landgraf; Y Ji; W Gottlieb; T Depinet; A E Wandstrat; S B Cassidy; D J Driscoll; P K Rogan; S Schwartz; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

Review 3.  Chromosomal phenotypes and submicroscopic abnormalities.

Authors:  Koen Devriendt; Joris R Vermeesch
Journal:  Hum Genomics       Date:  2004-01       Impact factor: 4.639
  3 in total

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