Concepedia
Statistics
Publications
38
Citations
2.2K
H-Index
23
Active since
2001
Affiliations
University of Lausanne(Current)
University Hospital of Lausanne
Inserm
Hôpital Necker-Enfants Malades
Austrian Academy of Sciences
Belinda Campos‐Xavier is an author at University of Lausanne specializing in medicine, genetics, and pathology.
Top concepts
MedicineGeneticsPathologyMolecular GeneticsDevelopmental BiologyGenomicsClinical GeneticsGenetic EpidemiologyMolecular MedicineMolecular Diagnostics
Publications per year
2001–2024
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in <i>PLOD2</i>
Russia Hà-Vinh Leuchter, Yasemin Alanay, Ruud A. Bank et al. · American Journal of Medical Genetics Part A · 2004 · 175 citations
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 165 citations · Full text
Multiple Enchondromatosis Syndromes, Genetics, Pathology +17
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text
Developmental Biology, Biochemistry, Brain Development +7
Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori et al. · New England Journal of Medicine · 2016 · 144 citations · Full text
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 136 citations · Full text
Bone Disease, Developmental Biology, Mendelian Disorder +5
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