Fenna de Freitas

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function

Olivier Leupin, Elke Piters, Christine Halleux et al. · Journal of Biological Chemistry · 2011 · 306 citations · Full text

Medicine, Biochemistry, Molecular Biology +13

A New Heterozygous Mutation (R714C) of the Osteopetrosis Gene, <i>Pleckstrin Homolog Domain Containing Family M (With Run Domain) Member 1 (PLEKHM1)</i>, Impairs Vesicular Acidification and Increases TRACP Secretion in Osteoclasts

Andrea Del Fattore, Rachele Fornari, Liesbeth Van Wesenbeeck et al. · Journal of Bone and Mineral Research · 2007 · 84 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect

Bram Perdu, Fenna de Freitas, Suzanna G.M. Frints et al. · Journal of Bone and Mineral Research · 2009 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

Elke Piters, Cavit Çulha, M. J. C. Moester et al. · Human Mutation · 2010 · 64 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification of Sex-Specific Associations Between Polymorphisms of the <i>Osteoprotegerin</i> Gene, <i>TNFRSF11B</i>, and Paget's Disease of Bone

Greet Beyens, Anna Daroszewska, Fenna de Freitas et al. · Journal of Bone and Mineral Research · 2007 · 59 citations · Full text

Medicine, Genetics, Molecular Genetics +15