Genetic Diseases, Inborn 4,949 articles
- Adrenal Hyperplasia, Congenital
- Alagille Syndrome
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Angioedema, Hereditary
- Ataxia Telangiectasia
- Blood Coagulation Disorders, Inherited
- Brugada Syndrome
- Camurati-Engelmann Syndrome
- Cardiomyopathy, Hypertrophic, Familial
- Chromosome Disorders
- Cystic Fibrosis
- Eye Diseases, Hereditary
- Familial Mediterranean Fever
- Genetic Diseases, X-Linked
- Genetic Diseases, Y-Linked
- Hajdu-Cheney Syndrome
- Heredodegenerative Disorders, Nervous System
- Hyperthyroxinemia, Familial Dysalbuminemic
- Kallmann Syndrome
- Kartagener Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Muscular Dystrophies
- Myasthenic Syndromes, Congenital
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Skin Diseases, Genetic
- Werner Syndrome
Great expectations: using massively parallel sequencing to solve inherited disorders. FAU - Corbett, Mark
[Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood].
The discovery of cell-free fetal DNA (cff-DNA) in maternal plasma offered a new way to noninvasive prenatal diagnosis for single gene disorders. In the past decade, many techniques such as real-time PCR, pyrophosphorolysis-activated polymerization, mass spectrum and digital PCR have been developed f...
Human intronless disease associated genes are slowly evolving.
We have examined human-mouse homologous intronless disease and non-disease genes alongside their extent of sequence conservation, tissue expression, domain and gene ontology composition to get an idea regarding evolutionary and functional attributes. We show that selection has significantly discrimi...
Fetal abnormalities leading to third trimester abortion: nine-year experience from a single medical center.
Third-trimester abortion may be obviated by timely screening and scanning in some cases. The possibility of late TOP should be considered in malformations occurring late in pregnancy and in cases that require meticulous evaluation and follow-up from earlier stages of gestation....
Managing self-responsibility through other-oriented blame: Family accounts of genetic testing
We explore how forms of responsible selfhood are managed through accounts of other-oriented blame in the family sphere. Interviews (n=20) were conducted in the United Kingdom with parents whose genetic condition may have consequences for other family members. Using rhetorical discourse analysis we s...
Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis.
We present here a new diagnostic procedure for the disease using current methods of molecular genetics and protein chemistry....
Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.
We recently identified a patient with a homozygous amino acid substitution in Igbeta, a glycine to serine at codon 137, adjacent to the cysteine required for the disulfide bond between Igalpha and Igbeta. This patient has a small percentage of surface IgM(dim) B cells in the peripheral circulation (...
A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter.
The chips are down.
Structural and functional genetic disorders of the great vessels and outflow tracts.
Development of the aorta and pulmonary artery is a complex process involving multiple molecular genetic pathways that modulate morphogenesis of the outflow tracts and the anastomosis of branch vessels. Recent genetic studies of the cardiovascular system demonstrate that congenital and adult onset pr...