Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical breast cancer"
DOI: 10.1016/j.clbc.2020.08.010
Abstract: BACKGROUND Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high-risk individuals; however, the guidelines have not incorporated differences… read more here.
Keywords: health care; ashkenazi jewish; african americans; care disparities ... See more keywords
Association of anti-inflammatory cytokine IL10 polymorphisms with motoric cognitive risk syndrome in an Ashkenazi Jewish population
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.06.006
Abstract: Motoric cognitive risk (MCR) syndrome is a newly described predementia syndrome characterized by the presence of cognitive complaints and slow gait, which is associated with increased risk of conversion to dementia. The underlying biological mechanisms… read more here.
Keywords: cytokine il10; il10; risk; ashkenazi jewish ... See more keywords
Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.01.001
Abstract: Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much… read more here.
Keywords: gaucher disease; jewish family; ashkenazi jewish; disease ... See more keywords
Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.154
Abstract: Purpose:The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers… read more here.
Keywords: pilot program; experiences pilot; ashkenazi jewish; population ... See more keywords
NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Current Eye Research"
DOI: 10.1080/02713683.2017.1304560
Abstract: ABSTRACT Purpose: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. Methods: Seven affected members were recruited. Medical history, clinical findings,… read more here.
Keywords: horan syndrome; nhs gene; ashkenazi jewish; jewish families ... See more keywords
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1681008
Abstract: ABSTRACT Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression in females was reported in some families. We report here three non-related Ashkenazi Jewish families… read more here.
Keywords: phenotype; cacna1f; ashkenazi jewish; female carriers ... See more keywords
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy231
Abstract: Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with psychomotor retardation and necrotizing lesions in brain deep gray matter. OXPHOS occurs at the inner mitochondrial membrane through the… read more here.
Keywords: leigh syndrome; dimerization; ashkenazi jewish; atp synthesis ... See more keywords
The time and place of European admixture in Ashkenazi Jewish history
Sign Up to like & getrecommendations! Published in 2017 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1006644
Abstract: The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and… read more here.
Keywords: ashkenazi jewish; admixture; time; time place ... See more keywords
BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2018.00323
Abstract: In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that… read more here.
Keywords: cancer cases; ashkenazi jewish; high risk; brca2 ... See more keywords