Associated Papers
Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).
Paladin L et al.
Febs Letters, 2015
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface.
Bonod-Bidaud C et al.
The Journal of Investigative Dermatology, 2012
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
Borck G et al.
American Journal of Medical Genetics. Part A, 2010
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
Symoens S et al.
Human Mutation, 2009
Molecular genetics in classic Ehlers-Danlos syndrome.
Malfait F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F et al.
Human Mutation, 2005
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U et al.
American Journal of Human Genetics, 2004
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
Tysoe C et al.
Qjm : Monthly Journal of the Association of Physicians, 2003
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
Giunta C et al.
American Journal of Medical Genetics, 2002
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum.
Steinmann B et al.
American Journal of Medical Genetics, 2000
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
Giunta C et al.
American Journal of Medical Genetics, 2000
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