Carrier screening in individuals of Ashkenazi Jewish descent
about
Recent advances in prenatal genetic screening and testingDevelopment of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descentType 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.The changing landscape of carrier screening: expanding technology and options?.Patient physical characteristics and primary care physician decision making in preconception genetic screeningGenomics and perinatal careExperience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individualsClinical whole-exome sequencing for the diagnosis of mendelian disorders.High-throughput carrier screening using TaqMan allelic discrimination.Molecular findings among patients referred for clinical whole-exome sequencing.Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approachesCarrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.ClinSeK: a targeted variant characterization framework for clinical sequencing.Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathyCarrier screening in preconception consultation in primary care.Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counselingDo people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?Prenatal healthcare providers' Gaucher disease carrier screening practices.Changing trends in carrier screening for genetic disease in the United StatesGenetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability.Expanded carrier screening in reproductive healthcare: perspectives from genetics professionalsCarrier screening by next-generation sequencing: health benefits and cost effectiveness.Molecular diagnostic experience of whole-exome sequencing in adult patientsThe future is now: carrier screening for all populations.The clinical content of preconception care: genetics and genomics.Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group.Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for GovernmentsClinical applications and implications of common and founder mutations in Indian subpopulations.Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing.
P2860
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P2860
Carrier screening in individuals of Ashkenazi Jewish descent
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Carrier screening in individuals of Ashkenazi Jewish descent
@ast
Carrier screening in individuals of Ashkenazi Jewish descent
@en
Carrier screening in individuals of Ashkenazi Jewish descent
@nl
type
label
Carrier screening in individuals of Ashkenazi Jewish descent
@ast
Carrier screening in individuals of Ashkenazi Jewish descent
@en
Carrier screening in individuals of Ashkenazi Jewish descent
@nl
prefLabel
Carrier screening in individuals of Ashkenazi Jewish descent
@ast
Carrier screening in individuals of Ashkenazi Jewish descent
@en
Carrier screening in individuals of Ashkenazi Jewish descent
@nl
P2093
P2860
P3181
P1433
P1476
Carrier screening in individuals of Ashkenazi Jewish descent
@en
P2093
Beth A Pletcher
Kristin G Monaghan
Susan J Gross
P2860
P2888
P3181
P356
10.1097/GIM.0B013E31815F247C
P407
P577
2008-01-01T00:00:00Z
P6179
1027065506