Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. - Wikidata - wikimedia - TriplyDB

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

http://www.wikidata.org/entity/Q34268291

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The clinical management of Type 2 Gaucher disease ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases.Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals Disease variants in genomes of 44 centenarians.Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening Pharmacogenetics in Jewish populations.High-throughput carrier screening using TaqMan allelic discrimination.A reappraisal of Gaucher disease-diagnosis and disease management algorithms.Mutation update: the spectra of nebulin variants and associated myopathies.Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.Personalizing medicine with clinical pharmacogenetics Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness.A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.Preconception care and genetic risk: ethical issues Carrier screening in preconception consultation in primary care.Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?Prenatal healthcare providers' Gaucher disease carrier screening practices.Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis Changing trends in carrier screening for genetic disease in the United States Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment.Responsible implementation of expanded carrier screening.Carrier screening by next-generation sequencing: health benefits and cost effectiveness.Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.Three novel mutations in Iranian patients with Tay-Sachs disease.The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

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P2860

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

http://www.wikidata.org/entity/Q34268291

description

2010 nî lūn-bûn

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2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Experience with carrier screen ...... enazi Jewish genetic diseases.

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Lisa Edelmann

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Liu Liu

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Minjie Luo

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Robert J Desnick

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Ruth Kornreich

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Stuart A Scott

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P2860

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Carrier screening in individuals of Ashkenazi Jewish descent

Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Detection of large-scale variation in the human genome

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Next-generation sequencing: from basic research to diagnostics

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descent

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1240-1250

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10.1002/HUMU.21327

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11

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31

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20672374

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2970726

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