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Belinda Campos‐Xavier | doi.page

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Belinda Campos‐Xavier

Hospitais da Universidade de Coimbra(PT)University Hospital of Lausanne(CH)

Publications by Year

Research Areas

Connective tissue disorders research, RNA modifications and cancer, Immunodeficiency and Autoimmune Disorders, Ubiquitin and proteasome pathways, Dermatological and Skeletal Disorders

Most-Cited Works

→ Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2(2004)177 cited
→ Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome(2011)166 cited
→ NANS-mediated synthesis of sialic acid is required for brain and skeletal development(2016)164 cited
→ Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease(2016)147 cited
→ FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development(2013)137 cited
→ Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator(2021)116 cited

→ Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia(2009)

112 cited

→ Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP(2011)99 cited

→ Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis(2003)88 cited

→ The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals(2012)87 cited