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Genotype-phenotype correlations in Marfan syndrome.

作者信息

Landis Benjamin J, Veldtman Gruschen R, Ware Stephanie M

机构信息

Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Ringgold Standard Institution, Indianapolis, Indiana, USA.

Adult Congenital Heart Disease Program, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Heart. 2017 Nov;103(22):1750-1752. doi: 10.1136/heartjnl-2017-311513. Epub 2017 Jun 8.

DOI:10.1136/heartjnl-2017-311513

PMID:28596305

Abstract

摘要

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Genotype-phenotype correlations in Marfan syndrome.

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Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

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引用本文的文献

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.

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Mol Genet Genomic Med. 2024 Sep;12(9):e70004. doi: 10.1002/mgg3.70004.

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Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

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Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

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An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.

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Genotype-phenotype correlations in Marfan syndrome.

作者信息

Landis Benjamin J, Veldtman Gruschen R, Ware Stephanie M

机构信息

Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Ringgold Standard Institution, Indianapolis, Indiana, USA.

Adult Congenital Heart Disease Program, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Heart. 2017 Nov;103(22):1750-1752. doi: 10.1136/heartjnl-2017-311513. Epub 2017 Jun 8.

DOI:10.1136/heartjnl-2017-311513

PMID:28596305

Abstract

摘要

相似文献

Genotype-phenotype correlations in Marfan syndrome.

Heart. 2017 Nov;103(22):1750-1752. doi: 10.1136/heartjnl-2017-311513. Epub 2017 Jun 8.

[Ocular manifestations of Marfan syndrome].

Vestn Oftalmol. 2022;138(4):94-100. doi: 10.17116/oftalma202213804194.

Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.

BMC Med Genet. 2014 Feb 24;15:23. doi: 10.1186/1471-2350-15-23.

Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights.

Semin Thorac Cardiovasc Surg. 1997 Jul;9(3):191-205.

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.

Hum Mutat. 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113.

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hum Mutat. 1997;10(6):415-23. doi: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C.

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Genes (Basel). 2020 May 20;11(5):574. doi: 10.3390/genes11050574.

Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.

Chin Med J (Engl). 2010 Oct;123(20):2874-8.

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Genet Med. 2017 Jul;19(7):772-777. doi: 10.1038/gim.2016.181. Epub 2016 Dec 1.

引用本文的文献

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.

J Mol Cell Cardiol Plus. 2025 Jun 19;13:100467. doi: 10.1016/j.jmccpl.2025.100467. eCollection 2025 Sep.

A novel missense variant of gene in a Sardinian family with Marfan syndrome: a case report.

Front Pediatr. 2025 Mar 7;13:1549504. doi: 10.3389/fped.2025.1549504. eCollection 2025.

A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome.

Mol Genet Genomic Med. 2024 Sep;12(9):e70004. doi: 10.1002/mgg3.70004.

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome.

Ophthalmol Sci. 2024 Apr 6;4(5):100526. doi: 10.1016/j.xops.2024.100526. eCollection 2024 Sep-Oct.

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.

Orphanet J Rare Dis. 2024 May 21;19(1):209. doi: 10.1186/s13023-024-03139-4.

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.

Genes (Basel). 2022 Nov 13;13(11):2108. doi: 10.3390/genes13112108.

The Molecular Genetics of Marfan Syndrome.

Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021.

Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.

Orphanet J Rare Dis. 2020 Oct 15;15(1):290. doi: 10.1186/s13023-020-01569-4.

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.

Clin Case Rep. 2020 Jun 2;8(8):1445-1451. doi: 10.1002/ccr3.2881. eCollection 2020 Aug.

Genotype-Phenotype Correlation in Children: The Impact of Variants on Pediatric Marfan Care.

Genes (Basel). 2020 Jul 15;11(7):799. doi: 10.3390/genes11070799.

Genotype-phenotype correlations in Marfan syndrome.

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Genotype-phenotype correlations in Marfan syndrome.

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