Aurélie Plancke

Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Aurélie Plancke, Muriel Holder‐Espinasse, Valérie Rigau et al. · European Journal of Human Genetics · 2009 · 47 citations · Full text

Allelic Variant, Col3a1 Results, Mendelian Disorder +12

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and <i>FBN1</i> Genotype

Elsa Haine, Jean‐Pierre Salles, Philippe Khau Van Kien et al. · Journal of Bone and Mineral Research · 2015 · 36 citations · Full text

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

Laurence Faivre, Philippe Khau Van Kien, Patrick Callier et al. · European Journal of Medical Genetics · 2010 · 17 citations

Mendelian Disorder, Genetic Disorder, Medicine +9

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland et al. · European Journal of Human Genetics · 2021 · 17 citations · Full text

Genetics, Genetic Epidemiology, Novo Events +16

A +3 variant at a donor splice site leads to a skipping of the <i>MYH11</i> exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland et al. · Molecular Genetics & Genomic Medicine · 2021 · 11 citations · Full text