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An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation  of cryptic mutations leading to disease | 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

The Molecular Genetics of Marfan Syndrome
The Molecular Genetics of Marfan Syndrome

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in  humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley  Online Library
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans - Yin - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Molecular cloning, characterization and 3D modelling of spotted snakehead  fbn1 C-terminal region encoding asprosin and expression analysis of fbn1 |  Scientific Reports
Molecular cloning, characterization and 3D modelling of spotted snakehead fbn1 C-terminal region encoding asprosin and expression analysis of fbn1 | Scientific Reports

FBN1 gDNA Primers and Annealing Temperatures | Download Table
FBN1 gDNA Primers and Annealing Temperatures | Download Table

Localization of mutations in FBN1 and results from qualitative analysis...  | Download Scientific Diagram
Localization of mutations in FBN1 and results from qualitative analysis... | Download Scientific Diagram

Genes | Free Full-Text | Characterization of Two Novel Intronic Variants  Affecting Splicing in FBN1-Related Disorders
Genes | Free Full-Text | Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related  disorders | European Journal of Human Genetics
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders | European Journal of Human Genetics

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
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

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1  RNA Missplicing Events in the Marfan Syndrome
A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines:  implications for phenotypic variability in Marfan syndrome | European  Journal of Human Genetics
Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome | European Journal of Human Genetics

A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability  Associated with the Genetic Background and Overall Levels of Fbn1  Expression | PLOS ONE
A New Mouse Model for Marfan Syndrome Presents Phenotypic Variability Associated with the Genetic Background and Overall Levels of Fbn1 Expression | PLOS ONE

Distribution of FBN1 mutations per module.The number of splice... |  Download Scientific Diagram
Distribution of FBN1 mutations per module.The number of splice... | Download Scientific Diagram

DNA methylation of 10 candidate biomarkers. a DNA methylation levels,... |  Download Scientific Diagram
DNA methylation of 10 candidate biomarkers. a DNA methylation levels,... | Download Scientific Diagram

Solved You have obtained a human pedigree showing the | Chegg.com
Solved You have obtained a human pedigree showing the | Chegg.com

DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable  Polymorphic Markers | European Journal of Human Genetics
DNA Diagnostics of the Marfan Syndrome: Application of Amplifiable Polymorphic Markers | European Journal of Human Genetics

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]

An iPSC-derived vascular model of Marfan syndrome identifies key mediators  of smooth muscle cell death | Nature Genetics
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death | Nature Genetics

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

Position of polymorphic markers within and flanking the FBN1 gene (12) |  Download Scientific Diagram
Position of polymorphic markers within and flanking the FBN1 gene (12) | Download Scientific Diagram

Selection of marker RCGY sites and corresponding hybrid primers for... |  Download Scientific Diagram
Selection of marker RCGY sites and corresponding hybrid primers for... | Download Scientific Diagram

Fibrillins 1 and 2 Perform Partially Overlapping Functions during Aortic  Development - ScienceDirect
Fibrillins 1 and 2 Perform Partially Overlapping Functions during Aortic Development - ScienceDirect

Recapitulating and Correcting Marfan Syndrome in a Cellular Model
Recapitulating and Correcting Marfan Syndrome in a Cellular Model

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel  heterozygous mutation in FBN1 gene - ScienceDirect
Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene - ScienceDirect