Publications:

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 5873G>A; Cys1958Tyr

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.

Case Reports In Genetics

Mohammad, Ahmed A; Helmi, Haytham H; Atwal, Paldeep S PS

Publication Date: 2018

Variant appearance in text: FBN1: C1958Y

PubMed Link: 29796325

Variant Present in the following documents:

• Main text
• CRIG2018-6780494.pdf

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

Scientific Reports

Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z

Publication Date: 2016-09-09

Variant appearance in text: FBN1: 5873G>A; Cys1958Tyr

PubMed Link: 27611364

Variant Present in the following documents:

• Main text
• srep33002.pdf

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Frontiers In Pediatrics

Valencia, C Alexander CA; Husami, Ammar A; Holle, Jennifer J; Johnson, Judith A JA; Qian, Yaping Y; Mathur, Abhinav A; Wei, Chao C; Indugula, Subba Rao SR; Zou, Fanggeng F; Meng, Haiying H; Wang, Lijun L; Li, Xia X; Fisher, Rachel R; Tan, Tony T; Hogart Begtrup, Amber A; Collins, Kathleen K; Wusik, Katie A KA; Neilson, Derek D; Burrow, Thomas T; Schorry, Elizabeth E; Hopkin, Robert R; Keddache, Mehdi M; Harley, John Barker JB; Kaufman, Kenneth M KM; Zhang, Kejian K

Publication Date: 2015

Variant appearance in text: FBN1: C1958Y

PubMed Link: 26284228

Variant Present in the following documents:

• Main text

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