Literature DB >> 3461282

X;autosome translocations in females with Duchenne or Becker muscular dystrophy.

V Dubowitz.   

Abstract

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Year:  1986        PMID： 3461282     DOI： 10.1038/322291b0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  8 in total

1.  A familial X;autosome translocation associated with Becker type muscular dystrophy?

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

2.  Unusual inheritance of Becker type muscular dystrophy.

Authors:  R Lisker; O Mutchinick; L Ruz
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 3.  Microdeletion syndromes, balanced translocations, and gene mapping.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

Review 5.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

6.  Muscular dystrophy in girls with X;autosome translocations.

Authors:  Y Boyd; V Buckle; S Holt; E Munro; D Hunter; I Craig
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

Review 7.  Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy.

Authors:  W Werner; A W Spiegler
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

8.  Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.

Authors:  Maria Clara Bonaglia; Sara Bertuzzo; Anna Maria Ciaschini; Giancarlo Discepoli; Lucia Castiglia; Romina Romaniello; Orsetta Zuffardi; Marco Fichera
Journal:  Mol Cytogenet       Date:  2020-06-11       Impact factor: 2.009
  8 in total

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