Heloísa G. dos Santos

LMNA mutations in atypical Werner's syndrome

Lishan Chen, Lin Lee, Brian A. Kudlow et al. · The Lancet · 2003 · 423 citations

Life Sciences, Genetics, Molecular Genetics +7

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

Anil K. Agarwal, Chao Xing, George Demartino et al. · The American Journal of Human Genetics · 2010 · 329 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi et al. · PLoS ONE · 2008 · 290 citations · Full text

Medicine, Molecular Genetics, Oral Biology +17

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

Abhimanyu Garg, Ana Berta Sousa, Lalitha Subramanyam et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 102 citations · Full text

Medicine, Dermatology, Endocrinology +17

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Toshiyuki Fukada, Natacha Civic, Tatsuya Furuichi et al. · PLoS ONE · 2008 · 62 citations · Full text

Life Sciences, Developmental Biology, Molecular Genetics +13