Karin Mayer

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 207 citations · Full text

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic <i>FBN1</i> Mutations

Laurence Faivre, Alice Masurel‐Paulet, Gwenaëlle Collod‐Béroud et al. · PEDIATRICS · 2008 · 173 citations · Full text

Genetics, Genetic Epidemiology, Pathology +20

Cardiovascular manifestations in men and women carrying a FBN1 mutation

Delphine Détaint, Laurence Faivre, Gwenaëlle Collod‐Béroud et al. · European Heart Journal · 2010 · 159 citations · Full text

Antitumoral Activity of Rapamycin in Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex

Ralf Wienecke, Ingrid Fackler, Ulrich Linsenmaier et al. · American Journal of Kidney Diseases · 2006 · 117 citations · Full text

Tuberous Sclerosis Complex, Antitumoral Activity, Urology +6