Found: 7
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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10782
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- Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 841, doi. 10.1002/ajmg.a.35751
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- Article
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1895, doi. 10.1007/s00439-012-1216-9
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- Article
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1071, doi. 10.1038/ejhg.2013.302
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- Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
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- Article
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935
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- Article
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 11, p. 1924, doi. 10.1093/hmg/ddp114
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- Article