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2 documents found
1: Title: Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 164A (3): 620-6, 2014 .
Snippet: Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (ACTN1, DCAF5, EXD2, GALNTL1, ERH, SLC39A9, PLEKHD1, CCDC177, KIAA0247, LOC100289511, SRSF5, SLC10A1, SMOC1, SLC8A3, ADAM21P1, COX16, SYNJ2BP, SYNJ2BP-COX16, ADAM21) was responsible for these manifestations, but apart from SMOC1, mutations in which cause autosomal recessive Waardenburg anophthalmia syndrome, and ACTN1, mutations in which are associated with congenital macrothrombocytopenia, no disease associations have so far been reported for the other genes.
Affiliation: Practice of Human Genetics, Homburg (Saar), Germany. .
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2: Title: Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Authors: Rippey, Caitlin, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 93 (4): 697-710, 2013 .
Snippet: Four of 124 affected individuals and zero of 290 control individuals harbored such events (p = 0.002); a 47 kb duplication disrupted MATK and ZFR2, a 58 kb duplication disrupted PLEKHD1 and SLC39A9, a 121 kb duplication disrupted DNAJA2 and NETO2, and a 150 kb deletion disrupted MAP3K3 and DDX42.
Affiliation: Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: cfields@uw.edu. .
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