Literature DB >> 9832048

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.

O Combarros, A Oterino, J Berciano, A Benito, J L Fernández-Luna.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9832048      PMCID： PMC1051497          DOI： 10.1136/jmg.35.11.962

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  11 in total

1.  Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Authors:  V Timmerman; B Rautenstrauss; L T Reiter; T Koeuth; A Löfgren; T Liehr; E Nelis; K D Bathke; P De Jonghe; H Grehl; J J Martin; J R Lupski; C Van Broeckhoven
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

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.  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

4.  Prevalence of hereditary motor and sensory neuropathy in Cantabria.

Authors:  O Combarros; J Calleja; J M Polo; J Berciano
Journal:  Acta Neurol Scand       Date:  1987-01       Impact factor: 3.209

5.  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

6.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

7.  Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Authors:  L Pentao; C A Wise; A C Chinault; P I Patel; J R Lupski
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

8.  Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.

Authors:  R Navon; V Timmerman; A Löfgren; P Liang; E Nelis; M Zeitune; C Van Broeckhoven
Journal:  Prenat Diagn       Date:  1995-07       Impact factor: 3.050

9.  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

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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.