Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.
Wu Y et al.
Bioscience Reports, 2020
A novel FBN1 mutation causes autosomal dominant Marfan syndrome.
Xiao Y et al.
Molecular Medicine Reports, 2017
A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.
Martínez-Quintana E et al.
Molecular Syndromology, 2014
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K et al.
American Journal of Medical Genetics. Part A, 2006
Ectopia lentis phenotypes and the FBN1 gene.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2004
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
Schrijver I et al.
American Journal of Human Genetics, 1999
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