Publications:

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Bioarchaeological evidence of one of the earliest Islamic burials in the Levant.

Communications Biology

Srigyan, Megha M; Bolívar, Héctor H; Ureña, Irene I; Santana, Jonathan J; Petersen, Andrew A; Iriarte, Eneko E; Kırdök, Emrah E; Bergfeldt, Nora N; Mora, Alice A; Jakobsson, Mattias M; Abdo, Khaled K; Braemer, Frank F; Smith, Colin C; Ibañez, Juan José JJ; Götherström, Anders A; Günther, Torsten T; Valdiosera, Cristina C

Publication Date: 2022-06-07

Variant appearance in text: rs137854468

PubMed Link: 35672445

Variant Present in the following documents:

• 42003_2022_3508_MOESM1_ESM.pdf

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3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant.

Diagnostics (Basel, Switzerland)

Cho, Jung Sun JS; Park, Joonhong J; Kwon, Jong Bum JB; Kim, Dae-Won DW; Park, Mahn-Won MW

Publication Date: 2021-06-08

Variant appearance in text: FBN1: 3379G>A; Gly1127Ser; rs137854468

PubMed Link: 34201307

Variant Present in the following documents:

• Main text
• diagnostics-11-01057.pdf

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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: G1127S

PubMed Link: 33735269

Variant Present in the following documents:

• Main text
• pone.0248532.pdf

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Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association

Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ

Publication Date: 2018-08-07

Variant appearance in text: FBN1: 3379G>A; Gly1127Ser

PubMed Link: 30371227

Variant Present in the following documents:

• JAH3-7-e009302-s001.pdf
• JAH3-7-e009302.pdf

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Fell-Muir Lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?

International Journal Of Experimental Pathology

Kielty, Cay M CM

Publication Date: 2017-08

Variant appearance in text: FBN1: G1127S

PubMed Link: 28905442

Variant Present in the following documents:

• IEP-98-172.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 3379G>A; Gly1127Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs137854468

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Molecular Vision

Fu, Qing Q; Liu, Peng P; Lu, Qingsheng Q; Wang, Feng F; Wang, Hui H; Shen, Wei W; Xu, Fei F; Liu, Lin L; Sergeev, Yuri V YV; Sui, Ruifang R

Publication Date: 2014

Variant appearance in text: FBN1: Gly1127Ser

PubMed Link: 24940037

Variant Present in the following documents:

• mv-v20-812.pdf

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Molecular mechanisms of thoracic aortic dissection.

The Journal Of Surgical Research

Wu, Darrell D; Shen, Ying H YH; Russell, Ludivine L; Coselli, Joseph S JS; LeMaire, Scott A SA

Publication Date: 2013-10

Variant appearance in text: FBN1: Gly1127Ser

PubMed Link: 23856125

Variant Present in the following documents:

• Main text

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Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.

Plos One

Guo, Gao G; Gehle, Petra P; Doelken, Sandra S; Martin-Ventura, José Luis JL; von Kodolitsch, Yskert Y; Hetzer, Roland R; Robinson, Peter N PN

Publication Date: 2011

Variant appearance in text: FBN1: G1127S

PubMed Link: 21647416

Variant Present in the following documents:

• pone.0020138.pdf

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FBN1 mutations in patients with descending thoracic aortic dissections.

American Journal Of Medical Genetics. Part A

Brautbar, Ariel A; LeMaire, Scott A SA; Franco, Luis M LM; Coselli, Joseph S JS; Milewicz, Dianna M DM; Belmont, John W JW

Publication Date: 2010-02

Variant appearance in text: FBN1: Gly1127Ser

PubMed Link: 20082464

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: FBN1: G1127S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics

Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M

Publication Date: 2006-10

Variant appearance in text: FBN1: G1127S

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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Multi-exon deletions of the FBN1 gene in Marfan syndrome.

Bmc Medical Genetics

Liu, W W; Schrijver, I I; Brenn, T T; Furthmayr, H H; Francke, U U

Publication Date: 2001

Variant appearance in text: FBN1: Gly1127Ser

PubMed Link: 11710961

Variant Present in the following documents:

• 1471-2350-2-11.pdf

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