Publications:

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology

Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y

Publication Date: 2022-12

Variant appearance in text: FBN1: 2848T>C; Cys950Arg

PubMed Link: 34281902

Variant Present in the following documents:

• bjophthalmol-2021-319084supp003.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: C950R

PubMed Link: 31536524

Variant Present in the following documents:

• pone.0222506.s004.xlsx, sheet 1

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Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.

Molecular Genetics & Genomic Medicine

Vanem, Thy Thy TT; Geiran, Odd Ragnar OR; Krohg-Sørensen, Kirsten K; Røe, Cecilie C; Paus, Benedicte B; Rand-Hendriksen, Svend S

Publication Date: 2018-11

Variant appearance in text: FBN1: 2848T>C; Cys950Arg

PubMed Link: 30393980

Variant Present in the following documents:

• MGG3-6-1114-s001.pdf

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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Bmc Medical Genetics

Tjeldhorn, Lena L; Amundsen, Silja Svanstrøm SS; Barøy, Tuva T; Rand-Hendriksen, Svend S; Geiran, Odd O; Frengen, Eirik E; Paus, Benedicte B

Publication Date: 2015-12-18

Variant appearance in text: FBN1: Cys950Arg

PubMed Link: 26684006

Variant Present in the following documents:

• Main text
• 12881_2015_Article_260.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: C950R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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