Literature DB >> 1605201

Do sequences in Xq27.3 play a role in X inactivation?

M Schmidt.   

Abstract

Mesh：

Year:  1992        PMID： 1605201     DOI： 10.1002/ajmg.1320430143

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors:  J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

2.  The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

3.  Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Authors:  K Grønskov; H Hjalgrim; M O Bjerager; K Brøndum-Nielsen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Authors:  E Mornet; A Bogyo; C Deluchat; B Simon-Bouy; M Mathieu; F Thépot; M C Grisard; E Leguern; J Boué; A Boué
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

5.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

6.  Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

Authors:  Lauren S Marshall; Julie Simon; Tim Wood; Mei Peng; Renius Owen; Gary S Feldman; Michael V Zaragoza
Journal:  BMC Med Genet       Date:  2013-05-01       Impact factor: 2.103
  6 in total

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