Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event

A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15

(2016) Shane C. Quinonez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassingFBN1, and literature review

(2016) Chiara Dordoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

(2014) Julia Vogt et al.   GENOME BIOLOGY

Retroelements in human disease

(2013) Kristel Kaer et al.   GENE

Transcriptional regulation of human-specific SVAF1 retrotransposons by cis-regulatory MAST2 sequences

(2012) Anastasia A. Zabolotneva et al.   GENE

Mobile elements in the human genome: implications for disease

(2012) Szilvia Solyom et al.   Genome Medicine

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

(2012) Mileny ES Colovati et al.   Molecular Cytogenetics

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

(2011) Larissa V Furtado et al.   BMC Medical Genetics

Retrotransposition of marked SVA elements by human L1s in cultured cells

(2011) Dustin C. Hancks et al.   HUMAN MOLECULAR GENETICS

The non-autonomous retrotransposon SVA is trans -mobilized by the human LINE-1 protein machinery

(2011) Julija Raiz et al.   NUCLEIC ACIDS RESEARCH

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA

(2010) O. B. Bantysh et al.   BIOCHEMISTRY-MOSCOW

The clinical spectrum of complete FBN1 allele deletions

(2010) Yvonne Hilhorst-Hofstee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

(2010) Laurence Faivre et al.   European Journal of Medical Genetics

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Fukutingene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient

(2009) Hui Xiong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exon-trapping mediated by the human retrotransposon SVA

(2009) D. C. Hancks et al.   GENOME RESEARCH

5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

(2009) A. Damert et al.   GENOME RESEARCH

Severe Marfan syndrome due to FBN1 exon deletions

(2008) Moira Blyth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A