Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies-Reference-Cited by-同舟云学术

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Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

Published:2005 Issue:5 Volume:26 Page:494-494
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Arbustini Eloisa,Grasso Maurizia,Ansaldi Silvia,Malattia Clara,Pilotto Andrea,Porcu Emanuele,Disabella Eliana,Marziliano Nicola,Pisani Angela,Lanzarini Luca,Mannarino Savina,Larizza Daniela,Mosconi Mario,Antoniazzi Elena,Zoia M. Cristina,Meloni Giulia,Magrassi Lorenzo,Brega Agnese,Bedeschi Maria Francesca,Torrente Isabella,Mari Francesca,Tavazzi Luigi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 80 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome;Molecular Genetics & Genomic Medicine;2024-09

2. The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders;Biomolecules and Biomedicine;2023-09-08

3. A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome;European Journal of Human Genetics;2023-09-08

4. TGFβ signaling pathways in human health and disease;Frontiers in Molecular Biosciences;2023-06-01

5. Fibrillin-1 and asprosin, novel players in metabolic syndrome;Molecular Genetics and Metabolism;2023-01

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