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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

http://www.wikidata.org/entity/Q37244473

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Evolving health care through personal genomics.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

http://www.wikidata.org/entity/Q37244473

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 September 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@en

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

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type

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@en

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@nl

prefLabel

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@en

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@nl

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Scientific Reports

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Genetic testing of 248 Chinese aortopathy patients using a panel assay.

@en

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Chang Shu

http://www.w3.org/2001/XMLSchema#string

Chunjie Meng

http://www.w3.org/2001/XMLSchema#string

Hang Yang

http://www.w3.org/2001/XMLSchema#string

Jing Zhang

http://www.w3.org/2001/XMLSchema#string

Kunlun Yin

http://www.w3.org/2001/XMLSchema#string

Mingyao Luo

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Qian Chang

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Wenke Li

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Yandong Cao

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Yanyun Ma

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P2860

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Familial aortic dissecting aneurysm.

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

MAT2A mutations predispose individuals to thoracic aortic aneurysms

Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.

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33002

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scholarly article

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10.1038/SREP33002

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6

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2016-09-09T00:00:00Z

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27611364

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5017237

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