Darya Gorbenko del Blanco

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Yu Sun, Beata Bąk, Nadia Schoenmakers et al. · Nature Genetics · 2012 · 215 citations · Full text

Developmental Biology, Mendelian Disorder, Central Hypothyroidism +9

Vascular Smooth Muscle Cell Phenotypic Changes in Patients With Marfan Syndrome

Eva Crosas‐Molist, Thayna Meirelles, Judit López‐Luque et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2015 · 143 citations · Full text

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Sara Benito‐Sanz, N. Simon Thomas, Céline Huber et al. · The American Journal of Human Genetics · 2005 · 133 citations · Full text

Pathogenesis, Histopathology, Pathology +7

Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm

Francesc Jiménez‐Altayó, Thayna Meirelles, Eva Crosas‐Molist et al. · Free Radical Biology and Medicine · 2018 · 82 citations

Reductive Stress, Marfan Syndrome, Cardiovascular Disease +13

A FBN1 3′UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome

Anna‐Maria Siegert, Gerardo Garcia-Díaz Barriga, Anna Esteve‐Codina et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2018 · 64 citations · Full text

Protein Quality Control, Marfan Syndrome, Mutation Variant +8