Susana Balcells - Publications

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: October 20, 2024

Regulation of WNT16 in bone may involve upstream enhancers within CPED1.

Journal: Scientific reports

Published: September 19, 2024

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Journal: Journal of medical genetics

Published: January 22, 2024

Case report of a child bearing a novel deleterious splicing variant in PIGT.

Journal: Medicine

Published: March 01, 2019

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

Journal: Bone

Published: January 29, 2019

Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress.

Journal: PloS one

Published: July 23, 2018

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

Journal: Scientific reports

Published: March 26, 2018

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: January 25, 2018

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Journal: Clinical case reports

Published: December 22, 2017

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Journal: Scientific reports

Published: July 31, 2017

Expression profiling of microRNAs in human bone tissue from postmenopausal women.

Journal: Human cell

Published: May 30, 2017

Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

Journal: BMC medical genomics

Published: May 05, 2017