Disease: Brittle bone syndrome lethal type
- A De Novo Mutation in <em>COL1A1</em> in a Holstein Calf with Osteogenesis Imperfecta Type II
- A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II
- A Founder Pathogenic Variant of <em>PPIB</em> Unique to Chinese Population Causes Osteogenesis Imperfecta IX
- A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX
- A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
- A moderate form of osteogenesis imperfecta caused by compound heterozygous <em>LEPRE1</em> mutations
- A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations
- A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders
- A Non-Lethal Osteogenesis Imperfecta Type II Mutation
- A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model
- A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly
- A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1
- A scoring system for the assessment of clinical severity in osteogenesis imperfecta
- A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation
- Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta
- Active Euthanasia for Perinatal Osteogenesis Imperfecta; An Ethical Dilemma in a Tertiary Facility in Southwestern Nigeria: A Case Report
- Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta
- Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses
- Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta
- Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
- Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in <em>COL1A2</em>
- Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
- Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
- Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
- Biallelic variants in <em>MESD</em>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
- Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
- Biology of Hsp47 (Serpin H1), a collagen-specific molecular chaperone
- Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
- Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding
- Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis
- Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
- Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX
- Connective tissue alterations in Fkbp10-/- mice
- Consequences of Glycine Mutations in the Fibronectin-binding Sequence of Collagen
- Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice
- Current Overview of Osteogenesis Imperfecta
- Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective
- Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
- Determination of a Newborn with Lethal Type II Osteogenesis Imperfecta and Other Anomalies Using Autopsy and Postmortem MSCT--A Case Report
- Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta
- Dissecting the phenotypic variability of osteogenesis imperfecta
- Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation
- Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
- Ex-vivo assessment and non-invasive in vivo imaging of internal hemorrhages in Aga2/+ mutant mice
- Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
- Fetal Skeletal Lethal Dysplasia: Case Report
- Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone
- Generation of bone-specific lysyl hydroxylase 2 knockout mice and their phenotypes
- Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
- Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients
- Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta
- In utero stem cell transplantation for radical treatment of osteogenesis imperfecta: perspectives and controversies
- Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
- Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta
- Intracellular and Extracellular Markers of Lethality in Osteogenesis Imperfecta: A Quantitative Proteomic Approach
- Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
- Lethal osteogenesis imperfecta: antenatal diagnosis
- Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations
- Loss of TANGO1 Leads to Absence of Bone Mineralization
- Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome - osteogenesis imperfecta
- Mice Carrying a Ubiquitous R235W Mutation of Wnt1 Display a Bone-Specific Phenotype
- Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in <em>P3H1</em>-further expansion of the phenotypic spectrum
- Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum
- Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen
- Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively
- Morphology of Osteogenesis Imperfecta Collagen Mimetic Peptide Assemblies Correlates with the Identity of Glycine-Substituting Residue
- Murine Animal Models in Osteogenesis Imperfecta: The Quest for Improving the Quality of Life
- Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta
- NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
- Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization
- Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
- Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus
- Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
- Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions
- Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene
- Osteogenesis Imperfecta Type II: The Lethal Newborn Form Diagnosed in the Postnatal Period
- Osteogenesis Imperfecta: Current and Prospective Therapies
- Perinatal lethal type II osteogenesis imperfecta: a case report
- Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
- Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment
- Prenatal diagnosis of bone dysplasias
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
- Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States
- Ribcage deformity and the altered breathing pattern in children with osteogenesis imperfecta
- RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta
- Rosemary Extract-Induced Autophagy and Decrease in Accumulation of Collagen Type I in Osteogenesis Imperfecta Skin Fibroblasts
- Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
- Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2
- Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
- The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta
- The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease
- Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
- Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders
- Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
- Type-I collagen produced by distinct fibroblast lineages reveals specific function during embryogenesis and Osteogenesis Imperfecta
- Update on the evaluation and treatment of osteogenesis imperfecta
- What is new in genetics and osteogenesis imperfecta classification?