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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Mar 05, 2021. (Total: 39187 Documents since 2012)
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Records 1-16 (of 16 Record(s))
Query Trace: Marfan syndrome[original query]>>Translation/Implementation Studies[Product Type]
Publication
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)
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 in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
Warnink-Kavelaars Jessica et al. European journal of pediatrics 2019 Oct
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
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang Hang et al. Scientific reports 2016 633002
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
Hicks Kelli L et al. Journal of vascular surgery 2018 Mar
Beta-blockers for preventing aortic dissection in Marfan syndrome.
Koo Hyun-Kyoung et al. The Cochrane database of systematic reviews 2017 Nov 11CD011103
Utility of Genetic Testing in Elite Volleyball Players with Aortic Root Dilation.
Herrick Nicole et al. Medicine and science in sports and exercise 2017 Feb
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue Whitney et al. Am. J. Med. Genet. A 2015 May 5.
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