نتایج جستجو برای: genetic heterogeneity

تعداد نتایج: 694501  

Journal: :Journal of medical genetics 1997
J Roume H W Ma M Le Merrer V Cormier-Daire D Girlich E Genin A Munnich

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this po...

2017
Boglarka Bansagi Helen Griffin Roger G. Whittaker Thalia Antoniadi Teresinha Evangelista James Miller Mark Greenslade Natalie Forester Jennifer Duff Anna Bradshaw Stephanie Kleinle Veronika Boczonadi Hannah Steele Venkateswaran Ramesh Edit Franko Angela Pyle Hanns Lochmüller Patrick F. Chinnery Rita Horvath

OBJECTIVE To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome sequencing were performed in 105 patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64 pa...

Journal: :گیاه پزشکی 0

rhizoctonia zeae causes root rot and sheath blight on corn (zea mays) and several other gramineous plants. in order to determine the genetic diversity of the r. zeae population in mazandaran and golestan provinces, samples were collected from cultivatd soils of both provinces in 2011 and 2012.the identity of isolates as r. zeae were verified by amplification and sequencing of the 18s and 28s rd...

Journal: :Journal of experimental botany 2017
Simon K G Forsberg Örjan Carlborg

Epistasis and genetic variance heterogeneity are two non-additive genetic inheritance patterns that are often, but not always, related. Here we use theoretical examples and empirical results from earlier analyses of experimental data to illustrate the connection between the two. This includes an introduction to the relationship between epistatic gene action, statistical epistasis, and genetic v...

2015
Linghua Zhou Yong Shen Libo Jiang Danni Yin Jingxin Guo Hui Zheng Hao Sun Rongling Wu Yunqian Guo

Cells with the same genotype growing under the same conditions can show different phenotypes, which is known as "population heterogeneity". The heterogeneity of hematopoietic progenitor cells has an effect on their differentiation potential and lineage choices. However, the genetic mechanisms governing population heterogeneity remain unclear. Here, we present a statistical model for mapping the...

Journal: :Journal of Medical Genetics 1993

Journal: :Proceedings of the National Academy of Sciences 1980

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید