Literature DB >> 8751877

De novo duplication in Charcot-Marie-Tooth type 1A.

P Mandich, E Bellone, A Schenone, G Mancardi, M Abbruzzese, F Ajmar.   

Abstract

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Year:  1996        PMID： 8751877      PMCID： PMC1914899     

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


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  6 in total

1.  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

2.  Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

Authors:  B Dallapiccola; P Mandich; E Bellone; A Selicorni; V Mokin; F Ajmar; G Novelli
Journal:  Am J Med Genet       Date:  1993-11-01

3.  Variation in the frequency and type of sperm chromosomal abnormalities among normal men.

Authors:  R H Martin; A W Rademaker; K Hildebrand; L Long-Simpson; D Peterson; J Yamamoto
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

4.  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

Review 5.  Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization.

Authors:  M T Zenzes; R F Casper
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

6.  17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.

Authors:  G L Mancardi; A Uccelli; E Bellone; A Sghirlanzoni; P Mandich; D Pareyson; A Schenone; M Abbruzzese; F Ajmar
Journal:  Eur Neurol       Date:  1994       Impact factor: 1.710
  6 in total

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