Neonatal detection of 5p13.2 duplication and delineation of the phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35237/fullpdf
Reference11 articles.
1. Detection of large-scale variation in the human genome;Iafrate;Nat Genet,2004
2. Genome assembly comparison identifies structural variants in the human genome;Khaja;Nat Genet,2006
3. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion;Lorda-Sánchez;Am J Med Genet,1997
4. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome;Loscalzo;Eur J Med Genet,2008
5. Structural variation in the human genome;Lupski;N Engl J Med,2007
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1. 5p13 microduplication in a malformed fetus and his unaffected father;American Journal of Medical Genetics Part A;2022-11-02
2. Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome;Neurological Sciences;2017-01-20
3. A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype;Cytogenetic and Genome Research;2017
4. Duplications of SLC1A3: Associated with ADHD and autism;European Journal of Medical Genetics;2016-08
5. Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5);European Journal of Medical Genetics;2015-05
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