Literature DB >> 12746415

Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation.

T Mononen, A Sharp, M Laakso, R-L Meltoranta, A-K Valve-Dietz, K Heinonen.   

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Year:  2003        PMID: 12746415      PMCID: PMC1735480          DOI: 10.1136/jmg.40.5.e61

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  2 in total

1.  DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.

Authors:  Neeta Bala Tannan; Manisha Brahmachary; Paras Garg; Christelle Borel; Randah Alnefaie; Corey T Watson; N Simon Thomas; Andrew J Sharp
Journal:  Hum Mol Genet       Date:  2013-11-01       Impact factor: 6.150

2.  Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.

Authors:  Jin-Yeong Han; Ji-Hyun Shin; Myong-Seok Han; Goo-Hwa Je; Lisa G Shaffer
Journal:  J Hum Genet       Date:  2006-05-18       Impact factor: 3.172

  2 in total

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