Literature DB >> 8281165

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

J Tarleton1, R Richie, C Schwartz, K Rao, A S Aylsworth, A Lachiewicz.   

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Year:  1993        PMID： 8281165     DOI： 10.1093/hmg/2.11.1973

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  17 in total

Review 1.  Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.

Authors:  Robert D Wells
Journal:  J Biol Chem       Date:  2008-10-28       Impact factor: 5.157

2.  Chromosomal fragility and human genetic disorders.

Authors:  S Baskaran; V Brahmachari
Journal:  Indian J Clin Biochem       Date:  2000-08

Review 3.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

Review 4.  Heritable trinucleotide repeats and neurological disorders.

Authors:  B S Shastry
Journal:  Experientia       Date:  1994-11-30

5.  The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

Authors:  François Rousseau; Yves Labelle; Johanne Bussières; Carmen Lindsay
Journal:  Clin Biochem Rev       Date:  2011-08

6.  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

7.  Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Authors:  Stephen C Collins; Brad Coffee; Paul J Benke; Elizabeth Berry-Kravis; Fred Gilbert; Ben Oostra; Dicky Halley; Michael E Zwick; David J Cutler; Stephen T Warren
Journal:  PLoS One       Date:  2010-03-05       Impact factor: 3.240

8.  Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.

Authors:  M Milà; H Kruyer; G Glover; A Sánchez; P Carbonell; S Castellví-Bell; V Volpini; J Rossell; J Gabarrón; I López
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

Review 9.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

10.  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
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