Professor Penny Handford Research Group
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene | Molecular Cytogenetics | Full Text
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts | Scientific Reports
The molecular genetics of Marfan syndrome and related microfibrillopathies | Journal of Medical Genetics
CDH in a family with Marfan syndrome. (A) Pedigree showing the... | Download Scientific Diagram
Marfan Syndrome
Marfan syndrome: MedlinePlus Genetics
![PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/8aaf29ea06bc2c695e1c09bb04a97aa54bcc2921/3-Figure1-1.png "PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar")
PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar
Marfan Lipodystrophy Syndrome | Hereditary Ocular Diseases
Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos: Molecular Therapy
JCM | Free Full-Text | Translational Medicine: Towards Gene Therapy of Marfan Syndrome
Marfan syndrome: MedlinePlus Genetics
Marfan syndrome: biological basis and genetics | British Journal of Cardiac Nursing
Marfan syndrome | DermNet
IJMS | Free Full-Text | TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections
Molecular pathogenesis of Marfan syndrome - ScienceDirect
Fibrillin 1 - an overview | ScienceDirect Topics
![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-1-2x.jpg "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]
Marfan Syndrome | cdc.gov
Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation | Revista Española de Cardiología
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos: Molecular Therapy
A novel FBN1 mutation causes autosomal dominant Marfan syndrome
