Literature DB >> 1640430

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.

E Bellone1, P Mandich, G L Mancardi, A Schenone, A Uccelli, M Abbruzzese, A Sghirlanzoni, D Pareyson, F Ajmar.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1640430      PMCID： PMC1016027     

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


× No keyword cloud information.
  10 in total

1.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita.

Authors:  P A Iaizzo; C Franke; H Hatt; W Spittelmeister; K Ricker; R Rüdel; F Lehmann-Horn
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

3.  The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

Authors:  P Raeymaekers; C Van Broeckhoven; H Backhovens; A Wehnert; L Muylle; P De Jonghe; J Gheuens; A Vandenberghe
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

4.  Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

Authors:  V Timmerman; P Raeymaekers; P De Jonghe; G De Winter; L Swerts; K Jacobs; J Gheuens; J J Martin; A Vandenberghe; C Van Broeckhoven
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

5.  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

6.  Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

Authors:  J M Vance; D Barker; L H Yamaoka; J M Stajich; L Loprest; W Y Hung; K Fischbeck; A D Roses; M A Pericak-Vance
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

7.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

8.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  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

10.  Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

Authors:  H R Middleton-Price; A E Harding; C Monteiro; J Berciano; S Malcolm
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025
  10 in total
  5 in total

1.  17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

Authors:  Wilson Marques; Marcos R Freitas; Osvaldo J M Nascimento; Acary B Oliveira; Leandro Calia; Ailton Melo; Rita Lucena; Vera Rocha; Amilton A Barreira
Journal:  J Neurol       Date:  2005-03-18       Impact factor: 4.849

2.  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

3.  Homozygous hypertrophic hereditary motor and sensory neuropathies.

Authors:  A Sghirlanzoni; D Pareyson; R Marazzi; G Cavaletti; E Bellone; P Mandich; M R Balestrini; D Riva
Journal:  Ital J Neurol Sci       Date:  1994-02

4.  A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.

Authors:  L Santoro; F Manganelli; E Di Maria; D Bordo; D Cassandrini; F Ajmar; P Mandich; E Bellone
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-02       Impact factor: 10.154

5.  Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

Authors:  P Mandich; R James; S Nassani; R Defferrari; E Bellone; G Mancardi; A Schenone; M Abbruzzese; M Rocchi; F Ajmar
Journal:  J Neurol       Date:  1995-05       Impact factor: 4.849
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.