Publications:

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Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: FBN1: Arg1541Ter; rs794728228

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625.pdf
• JAH3-12-e028625-s001.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 4621C>T; Arg1541Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 4621C>T; Arg1541*; rs794728228

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.

Plos One

Gentilini, Davide D; Oliveri, Antonino A; Fazia, Teresa T; Pini, Alessandro A; Marelli, Susan S; Bernardinelli, Luisa L; Di Blasio, Anna Maria AM

Publication Date: 2019

Variant appearance in text: FBN1: R1541X

PubMed Link: 31536524

Variant Present in the following documents:

• pone.0222506.s004.xlsx, sheet 1

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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Orphanet Journal Of Rare Diseases

Cui, Yazhou Y; Zhao, Heng H; Liu, Zhenxing Z; Liu, Chao C; Luan, Jing J; Zhou, Xiaoyan X; Han, Jinxiang J

Publication Date: 2012-08-22

Variant appearance in text: FBN1: 4621C>T; R1541X

PubMed Link: 22913777

Variant Present in the following documents:

• Main text
• 1750-1172-7-55.pdf

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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics

Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U

Publication Date: 2002-08

Variant appearance in text: FBN1: R1541X

PubMed Link: 12068374

Variant Present in the following documents:

• Main text

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