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Precision Health Database


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Reproductive and Child Health

Last data update: Jun 25, 2022. (Total: 47911 Documents since 2012)
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Query Trace: Carrier Testing Or Carrier Screening[original query]>>Original Studies[Product Type]
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
Schmidtke Jörg et al. Journal of community genetics 2022
Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.
Shahid Rabia et al. Pediatric research 2022
Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing.
Li Shuyuan et al. The Journal of molecular diagnostics : JMD 2022
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing.
Jin Weijiang et al. Clinica chimica acta; international journal of clinical chemistry 2022 53245-52
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium).
Van Steijvoort Eva et al. Journal of genetic counseling 2022
Significance of borderline HbA levels in β thalassemia carrier screening.
Colaco Stacy et al. Scientific reports 2022 12(1) 5414
Pathogenic Variant-Based Preconception Carrier Screening in the Israeli Jewish Population.
Davidov Bella et al. Clinical genetics 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau Jeffrey Fong Ting et al. NPJ genomic medicine 2022 7(1) 23
The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Ware Gardenier et al. Molecular genetics & genomic medicine 2022 e1897
Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium).
Van Steijvoort Eva et al. European journal of human genetics : EJHG 2022
Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.
Meraj Neelam et al. BMC women's health 2022 22(1) 57
A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.
Jones Tara A et al. Journal of assisted reproduction and genetics 2022
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era.
Zettler Bethany et al. Journal of genetic counseling 2022
The diagnostic utility of exome-based carrier screening in families with a positive family history.
Kotecha Udhaya Hardik et al. American journal of medical genetics. Part A 2022
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.
Zhao Sumin et al. Scientific reports 2022 12(1) 223
[Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16
Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
Farrell Ruth M et al. BMC pregnancy and childbirth 2021 21(1) 806
Qualitative study of GPs' views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives.
Morberg Jämterud Sofia et al. BMJ open 2021 11(12) e056869
A collaborative genetic carrier screening model for the British Ashkenazi Jewish community.
Ziff Monica et al. Journal of community genetics 2021
Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.
Barlow-Stewart Kristine et al. Journal of community genetics 2021
Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers.
Rothwell Erin et al. Journal of communication in healthcare 2021 14(3) 252-258
Screening of Some Indicators for Alpha-Thalassemia in Fujian Province of Southern China.
Zheng Lin et al. International journal of general medicine 2021 147329-7335
Development and use of the Australian reproductive genetic carrier screening decision aid.
King Emily et al. European journal of human genetics : EJHG 2021
Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening.
Brown Emily M et al. Journal of genetic counseling 2021
Evaluating for Disparities in Prenatal Genetic Counseling.
Christopher Diane et al. American journal of obstetrics & gynecology MFM 2021 100494
Effectiveness of Using Mean Corpuscular Volume and Mean Corpuscular Hemoglobin for Beta-thalassemia Carrier Screening in the Guangdong Population of China.
Gu Heng et al. Biomedical and environmental sciences : BES 2021 34(8) 667-671
Counseling for personal health implications identified during reproductive genetic carrier screening.
Gbur Samantha et al. Prenatal diagnosis 2021
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).
Martin Ellenore M et al. Journal of medical genetics 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi David A et al. Molecular genetics & genomic medicine 2021 e1756
Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan.
Rehman Shoaib U et al. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2021 37(3) 479-483
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