Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders | European Journal of Human Genetics
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease | Journal of Human Genetics
Characterization of MFS and MFSiPS cells. (A) DNA sequencing analysis... | Download Scientific Diagram
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable Polymorphic Markers | European Journal of Human Genetics
Position of polymorphic markers within and flanking the FBN1 gene (12) | Download Scientific Diagram
![Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]](https://dfzljdn9uc3pi.cloudfront.net/2018/5927/1/fig-1-full.png "Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]")
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]
DNA methylation of 10 candidate biomarkers. a DNA methylation levels,... | Download Scientific Diagram
![PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/232294ff2f3f8a828d9f5eb8c3a52b2b7e4a445c/3-Figure1-1.png "PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar")
PDF] Informative STR Markers for Marfan Syndrome in Birjand, Iran | Semantic Scholar
Original Article Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
Genes | Free Full-Text | FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review
PDF) Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Fbn1 gene targeting strategy | Download Scientific Diagram
The Molecular Genetics of Marfan Syndrome
Frontiers | Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects | European Journal of Human Genetics
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death | Nature Genetics
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders
Biomolecules | Free Full-Text | Fibrillin-1 Regulates Arteriole Integrity in the Retina
Frontiers | Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations
Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1 - ScienceDirect
