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Items: 1 to 20 of 196

1.
Association of serum asprosin with metabolic dysfunction-associated fatty liver disease in older adult type 2 diabetic patients: a cross-sectional study
Junfang Cui, Yunfeng Liu, Mina Li, Jianhong Yin, Jing Yang, Linxin Xu
BMC Endocr Disord. 2024; 24: 27. Published online 2024 Mar 4. doi: 10.1186/s12902-024-01560-1
PMCID:
PMC10910831
ArticlePDF–991K
2.
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification
Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu
BMC Med Genomics. 2024; 17: 47. Published online 2024 Feb 5. doi: 10.1186/s12920-024-01822-w
PMCID:
PMC10840365
ArticlePDF–2.5M
3.
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing
Jee Ah Kim, Mi‐Ae Jang, Shin Yi Jang, Duk‐Kyung Kim, Young‐gon Kim, Jong‐Won Kim, Taek Kyu Park, Ja‐Hyun Jang
J Clin Lab Anal. 2024 Jan; 38(1-2): e25009. Published online 2024 Jan 17. doi: 10.1002/jcla.25009
PMCID:
PMC10829686
ArticlePDF–2.8M
4.
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines
Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A Lee
Ann Lab Med. 2024 May 1; 44(3): 271–278. Published online 2023 Oct 16. doi: 10.3343/alm.2023.0152
PMCID:
PMC10813823
ArticlePDF–296K
5.
Salivary and serum asprosin hormone levels in the 2018 EFP/AAP classification of periodontitis stages and body mass index status: a case-control study
Sema Nur Sevinç Gül, Didem Özkal Eminoğlu, Esra Laloğlu, Tuğba Aydın, Alparslan Dilsiz
Clin Oral Investig. 2024; 28(1): 91. Published online 2024 Jan 13. doi: 10.1007/s00784-024-05494-9
PMCID:
PMC10787907
ArticlePDF–612K
6.
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Elin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, Adalbjorg Jonasdottir, Hildigunnur Katrinardottir, Run Fridriksdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Sigurjon Axel Gudjonsson, Jon Johannes Jonsson, Vigdis Stefansdottir, Ragnar Danielsen, Astridur Palsdottir, Hakon Jonsson, Agnar Helgason, Olafur Thor Magnusson, Unnur Thorsteinsdottir, Hans Tomas Bjornsson, Kari Stefansson, Patrick Sulem
Eur J Hum Genet. 2024 Jan; 32(1): 44–51. Published online 2023 Sep 8. doi: 10.1038/s41431-023-01455-0
PMCID:
PMC10772070
ArticlePDF–722K
7.
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene
Mol Genet Genomic Med. 2023 Jul; 11(7): e2166. Published online 2023 Mar 21. doi: 10.1002/mgg3.2166
PMCID:
PMC10337287
ArticlePDF–3.7M
8.
Clinical and genetic findings in Chinese families with congenital ectopia lentis
Xin Liu, Liman Niu, Liyun Zhang, Liqiong Jiang, Kaiqing Liu, Xueping Wu, Xinhua Liu, Jiantao Wang
Mol Genet Genomic Med. 2023 May; 11(5): e2140. Published online 2023 Jan 20. doi: 10.1002/mgg3.2140
PMCID:
PMC10178797
ArticlePDF–9.6M
9.
Fibrillin-1 mutation contributes to Marfan syndrome by inhibiting Cav1.2-mediated cell proliferation in vascular smooth muscle cells
Wenfeng Lin, Jiaqi Xiong, Yefan Jiang, Hao Liu, Jinhui Bian, Juejin Wang, Yongfeng Shao, Buqing Ni
Channels (Austin) 2023; 17(1): 2192377. Published online 2023 Mar 27. doi: 10.1080/19336950.2023.2192377
PMCID:
PMC10054150
ArticlePDF–5.7M
10.
No differences in FBN1 genotype between men with and without abdominal aortic aneurysm
Ida Åström Malm, Rachel De Basso, Peter Blomstrand
BMC Cardiovasc Disord. 2023; 23: 36. Published online 2023 Jan 20. doi: 10.1186/s12872-023-03068-3
PMCID:
PMC9854173
ArticlePDF–741K
11.
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome
Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka
J Med Genet. 2023 Jan; 60(1): 74–80. Published online 2021 Dec 16. doi: 10.1136/jmedgenet-2021-108186
PMCID:
PMC9811093
ArticlePDF–502K
12.
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis
Zexu Chen, Tianhui Chen, Min Zhang, Jiahui Chen, Michael Deng, Jialei Zheng, Li-Na Lan, Yongxiang Jiang
Br J Ophthalmol. 2022 Dec; 106(12): 1655–1661. Published online 2021 Jul 19. doi: 10.1136/bjophthalmol-2021-319084
PMCID:
PMC9685704
ArticlePDF–2.2M
13.
Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
Kui Hu, Yun Wan, Fu-Tsuen Lee, Jinmiao Chen, Hao Wang, Haonan Qu, Tao Chen, Wang Lu, Zhenwei Jiang, Lufang Gao, Xiaojuan Ji, Liqun Sun, Daokang Xiang
Front Genet. 2022; 13: 857095. Published online 2022 Apr 25. doi: 10.3389/fgene.2022.857095
PMCID:
PMC9081721
ArticlePDF–1.8M
14.
Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study
Gustavo Borges Laurindo de Azevedo, Jamila Alessandra Perini, Antônio Eulálio Pedrosa Araújo Junior, Luis Antonio Medeiros Moliterno, Rodrigo Mantelatto Andrande, João Antonio Matheus Guimarães, Helton Luiz Aparecido Defino
BMC Musculoskelet Disord. 2022; 23: 430. Published online 2022 May 7. doi: 10.1186/s12891-022-05370-1
PMCID:
PMC9077855
ArticlePDF–1.0M
15.
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction
Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil, Suzanne M. Leal
Genes (Basel) 2021 Dec; 12(12): 1915. Published online 2021 Nov 28. doi: 10.3390/genes12121915
PMCID:
PMC8700962
ArticlePDF–681K
16.
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Pauline Arnaud, Olivier Milleron, Nadine Hanna, Jacques Ropers, Nadia Ould Ouali, Amel Affoune, Maud Langeois, Ludivine Eliahou, Florence Arnoult, Philippe Renard, Marlène Michelon-Jouneaux, Marie Cotillon, Laurent Gouya, Catherine Boileau, Guillaume Jondeau
Genet Med. 2021; 23(7): 1296–1304. Published online 2021 Mar 17. doi: 10.1038/s41436-021-01132-x
PMCID:
PMC8257477
ArticlePDF–974K
17.
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
Pauline Arnaud, Hélène Morel, Olivier Milleron, Laurent Gouya, Christine Francannet, Antoine Da Costa, Carine Le Goff, Guillaume Jondeau, Catherine Boileau, Nadine Hanna
Genet Med. 2021; 23(5): 865–871. Published online 2021 Jan 25. doi: 10.1038/s41436-020-01078-6
PMCID:
PMC8105163
ArticlePDF–779K
18.
Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis
Sacha A. Jensen, Ondine Atwa, Penny A. Handford
PLoS One. 2021; 16(3): e0248532. Published online 2021 Mar 18. doi: 10.1371/journal.pone.0248532
PMCID:
PMC7971562
ArticlePDF–2.3M
19.
Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
Yuan Yang, Ya-li Zhou, Teng-teng Yao, Hui Pan, Ping Gu, Zhao-yang Wang
Br J Ophthalmol. 2021 Mar; 105(3): 341–347. Published online 2020 May 13. doi: 10.1136/bjophthalmol-2019-315265
PMCID:
PMC7907564
ArticlePDF–1.4M
20.
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis
Yijing Zhou, Dongwei Guo, Qianzhong Cao, Xinyu Zhang, Guangming Jin, Danying Zheng
Mol Med Rep. 2021 Apr; 23(4): 275. Published online 2021 Feb 10. doi: 10.3892/mmr.2021.11914
PMCID:
PMC7893787
ArticlePDF–643K

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