Marfan Syndrome
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What's New
Last Posted: Nov 05, 2020
- Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study.
Kelleher Erin F et al. JMIR pediatrics and parenting 2020 Oct 3(2) e16367 - Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct - A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations.
Yuan Ping et al. Journal of assisted reproduction and genetics 2020 Aug - Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li Jiacheng et al. Science China. Life sciences 2019 Dec 62(12) 1630-1637 - Male-female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases.
Thijssen Carlijn G E et al. Journal of genetic counseling 2020 Jun - Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.
Grange Thomas et al. Genes 2020 May 11(5) - Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.
Ritelli Marco et al. Genes 2020 May 11(5) - Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189 - Marfan syndrome: A therapeutic challenge for long-term care.
Wagner A H et al. Biochemical pharmacology 2019 16453-63 - Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
Warnink-Kavelaars Jessica et al. European journal of pediatrics 2019 Oct - NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
Gentilini Davide et al. PloS one 2019 14(9) e0222506 - Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi Arash et al. Clinical genetics 2019 Sep - A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut Ilse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul - Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin Linnea M et al. European journal of human genetics : EJHG 2019 Jun - Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
About HLBS-PopOmics
HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more
Content Summary
- CDC Information (1)
- NIH Information (2)
- COVID-19 (3)
- Human Genome Epidemiologic Studies (58)
- GWAS Studies (2)
- Human Genomics Translation/Implementation Studies (16)
- Genomic Tests Evidence Synthesis (7)
- Genomic Tests Guidelines (2)
- Tier-Classified Guidelines (1)
- State Public Health Genomics Programs (3)
- Reviews/Commentaries (10)
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Site Citation:
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2020
- Page last updated:Dec 28, 2020
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