Basic Science/Genetics News http://www.mdlinx.com/internal-medicine/news.cfm/newspage/1/spec_id/3/subspec_id/471 Basic Science/Genetics en-us Copyright 2013 MDLinx, Inc. <![CDATA[A mathematical model of mortality dynamics across the lifespan combining heterogeneity and stochastic effects]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4640641/?xml 5/24/2013 Experimental Gerontology]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4640641/?xml <![CDATA[Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641458/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641458/?xml <![CDATA[The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients perspective]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636971/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636971/?xml <![CDATA[Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639251/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639251/?xml <![CDATA[Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639253/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639253/?xml <![CDATA[Chimerism in monochorionic dizygotic twins: Case study and review]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639250/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639250/?xml <![CDATA[Two is better than one: A case of homozygous myotonic dystrophy type 1]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639249/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639249/?xml <![CDATA[Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636972/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636972/?xml <![CDATA[Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641461/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641461/?xml <![CDATA[Cardiac fat-containing lesions are common in tuberous sclerosis complex]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639252/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639252/?xml <![CDATA[Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639256/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4639256/?xml <![CDATA[Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636968/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4636968/?xml <![CDATA[Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641465/?xml 5/24/2013 American Journal of Medical Genetics Part A]]> http://www.mdlinx.com/internal-medicine/news-article.cfm/4641465/?xml