Literature DB >> 7530551

A de novo deletion in FMR1 in a patient with developmental delay.

Y Gu1, K A Lugenbeel, J G Vockley, W W Grody, D L Nelson.   

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Year:  1994        PMID： 7530551     DOI： 10.1093/hmg/3.9.1705

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


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  16 in total

1.  Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Authors:  F Tassone; R J Hagerman; A K Taylor; L W Gane; T E Godfrey; P J Hagerman
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  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

3.  Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Frank J Probst; Patricia Bader; Patricia Evans; Linda A Baker; Ping Fang; Terry Bertin; Patricia Hixson; Pawel Stankiewicz; David Nelson; Ankita Patel; Sau Wai Cheung
Journal:  Neurogenetics       Date:  2012-08-14       Impact factor: 2.660

Review 4.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

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

5.  MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Authors:  Sureni V Mullegama; Loren Pugliesi; Brooke Burns; Zalak Shah; Raiha Tahir; Yanghong Gu; David L Nelson; Sarah H Elsea
Journal:  Eur J Hum Genet       Date:  2014-10-01       Impact factor: 4.246

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.  Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.

Authors:  P S Subramanian; D L Nelson; A C Chinault
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

Review 8.  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

9.  An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Authors:  F Quan; J Zonana; K Gunter; K L Peterson; R E Magenis; B W Popovich
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

10.  Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Authors:  Sarah L Nolin; W Ted Brown; Anne Glicksman; George E Houck; Alice D Gargano; Amy Sullivan; Valérie Biancalana; Karen Bröndum-Nielsen; Helle Hjalgrim; Elke Holinski-Feder; Frank Kooy; John Longshore; James Macpherson; Jean-Louis Mandel; Gert Matthijs; Francois Rousseau; Peter Steinbach; Marja-Leena Väisänen; Harriet von Koskull; Stephanie L Sherman
Journal:  Am J Hum Genet       Date:  2003-01-14       Impact factor: 11.025
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