Last Posted: Jul 10, 2020
- 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
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.