Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.

Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.

Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.

Clinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

Pain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.

Case Report: A usual procedure in an unusual situation: a patient with a rare Ehlers Danlos/osteogenesis imperfecta overlap undergoing aortic valve replacement.

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.

Genetic disorders in maternal medicine.

Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.

Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.

Asymptomatic Infant Rib Fractures Are Primarily Non-abuse-Related and Should Not Be Used to Assess Physical Child Abuse.

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.

Hidradenitis suppurativa and Ehlers-Danlos syndrome: A case-control study.

Hereditary dentin defects with systemic diseases.

Chiari I malformation management in patients with heritable connective tissue disorders.

Clinical-functional features of individuals with Osteogenesis Imperfecta and Ehlers-Danlos syndromes: A scoping review of assessment tools and ICF model.

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.

Developmental Foot Deformities in Patients with Connective Tissue Disorders.

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV).

Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Generation of a COL1A2 homozygous knockout stem cell line via CRISPR/Cas9 system.

Prevalence of Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta in patients with hidradenitis suppurativa.

Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue.

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.

Mitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.

Genetic causes of fractures and subdural hematomas: fact versus fiction.

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases.

Osteoblasts mineralization and collagen matrix are conserved upon specific Col1a2 silencing.

Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons.

A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.

Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives.

Diversity in heritable disorders of connective tissue at a single center.

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.

Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.

Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Fatigue in adults with Osteogenesis Imperfecta.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Genetic and Metabolic Conditions.

High Prevalence of Connective Tissue Gene Variants in Professional Ballet.

An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.

Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes.

Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals.

Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don'ts in Clinical Practice.

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.

A case of broken bones and systems: The threat of irresponsible testimony.

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.

The Molecular Basis of Genetic Collagen Disorders and Its Clinical Relevance.

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.

Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease.

[Peripheral artery disease in patients younger than 50 years old: Which etiology?].

Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association.

Craniofacial and Dental Defects in the Col1a1Jrt/+ Mouse Model of Osteogenesis Imperfecta.

Ocular manifestations of genetic skin disorders.

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Genetic differentials of child abuse: Is your case rare or real?

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge.

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.