Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Item
http://www.wikidata.org/entity/Q57951762
Mutations and altered expression of SERPINF1 in patients with familial otosclerosisNovel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patientsNovel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian FamiliesOsteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck SyndromeMolecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaZoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockadeNovel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.CRTAP mutation in a patient with Cole-Carpenter syndromeWhole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI
P2860

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Item
http://www.wikidata.org/entity/Q57951762
description
article
@en
im April 2013 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2013
@uk
name
Clinical and molecular analysi ...... enotype-phenotype correlations
@en
Clinical and molecular analysi ...... enotype-phenotype correlations
@nl
type
label
Clinical and molecular analysi ...... enotype-phenotype correlations
@en
Clinical and molecular analysi ...... enotype-phenotype correlations
@nl
prefLabel
Clinical and molecular analysi ...... enotype-phenotype correlations
@en
Clinical and molecular analysi ...... enotype-phenotype correlations
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Clinical and molecular analysi ...... enotype-phenotype correlations
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921