Marfan Syndrome
What's New
Last Posted: May 28, 2024
- High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Gloria K E Zodanu et al. Int J Mol Sci 2024 25(10) - What Is Marfan Syndrome?
Heidi M Connolly et al. JAMA 2023 4 - Integrating oculomics with genomics reveals imaging biomarkers for preventive and personalized prediction of arterial aneurysms.
Yu Huang et al. The EPMA journal 2023 14(1) 73-86 - The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Pollock Lily et al. Current rheumatology reports 2021 23(11) 81 - Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience.
Grossfeld Paul et al. Cardiology and cardiovascular medicine 2021 5(5) 545-550 - Role of Clinical Genetic Testing in the Management of Aortopathies.
Harris Stephanie L et al. Current cardiology reports 2021 Jan 23(2) 10 - 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 genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
BM Wenger et al, Genetics in Medicine, September 29, 2020 - 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
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About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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:Feb 1, 2024
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