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: 5060G>A; Cys1687Tyr

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

European Journal Of Human Genetics : Ejhg

Chesneau, Bertrand B; Plancke, Aurélie A; Rolland, Guillaume G; Chassaing, Nicolas N; Coubes, Christine C; Brischoux-Boucher, Elise E; Edouard, Thomas T; Dulac, Yves Y; Aubert-Mucca, Marion M; Lavabre-Bertrand, Thierry T; Plaisancié, Julie J; Khau Van Kien, Philippe P

Publication Date: 2021-05

Variant appearance in text: FBN1: 5060G>A

PubMed Link: 33414558

Variant Present in the following documents:

• Main text
• 41431_2020_Article_797.pdf

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Soluble EMMPRIN levels discriminate aortic ectasia in Marfan syndrome patients.

Theranostics

Rurali, Erica E; Perrucci, Gianluca L GL; Gaetano, Raffaella R; Pini, Alessandro A; Moschetta, Donato D; Gentilini, Davide D; Nigro, Patrizia P; Pompilio, Giulio G

Publication Date: 2019

Variant appearance in text: FBN1: 5060G>A; Cys1687Tyr

PubMed Link: 31149040

Variant Present in the following documents:

• thnov09p2224s1.pdf

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