• 200 - 400 m breaststroke event dominate among knee overuse injuries in elite swimming athletes
• A <em>de novo</em> variant in <em>PAK2</em> detected in an individual with Knobloch type 2 syndrome
• A phenotypic variant of Knobloch syndrome
• A wakeboarding injury presented as acute carpal syndrome and median nerve contusion after wrist strangulation: a case report
• Absence of self-reported neuropsychiatric and somatic symptoms after Omicron variant SARS-CoV-2 breakthrough infections
• Acute Angle Closure in Knobloch Syndrome
• Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome
• An Early Diagnostic Clue for <em>COL18A1-</em> and <em>LAMA1-</em>Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline
• Association between azithromycin therapy and duration of bacterial shedding among patients with Shiga toxin-producing enteroaggregative Escherichia coli O104:H4
• Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome
• Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations
• Case Report: Novel Biallelic Variants in the <em>COL18A1</em> Gene in a Chinese Family With Knobloch Syndrome
• Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
• Cataract surgery in Knobloch syndrome: a case report
• Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina
• Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy
• Clinical phenocopies of albinism
• CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
• COL18A1 is a candidate eye iridocorneal angle-closure gene in humans
• Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients
• Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
• Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation
• Decreased pulsatile blood flow in the patella in patellofemoral pain syndrome
• Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans
• Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
• Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan
• Duration of fecal shedding of Shiga toxin-producing Escherichia coli O104:H4 in patients infected during the 2011 outbreak in Germany: a multicenter study
• eComment: Plasmapheresis for near-fatal heparin-induced thrombocytopenia
• Endostatin phenylalanines 31 and 34 define a receptor binding site
• Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
• Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
• Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis
• Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1
• Heparin-induced thrombocytopenia in a nonthrombocytopenic patient with toxic epidermal necrolysis causing fatal outcome: is HIT still a HIT?
• Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome
• How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
• Hypertension and mild chronic kidney disease persist following severe haemolytic uraemic syndrome caused by Shiga toxin-producing Escherichia coli O104:H4 in adults
• Identification of ADAMTS18 as a gene mutated in Knobloch syndrome
• Integration of Sequencing and Epidemiologic Data for Surveillance of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infections in a Tertiary-Care Hospital
• Intraoperative discovery of lens dislocation in a child with Knobloch syndrome
• Knobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina
• Knobloch Syndrome - Triad of Occipital Encephalocele, Retino-Choroidal Detachment and Epilepsy
• Knobloch Syndrome Associated with Novel <em>COL18A1</em> Variants in Chinese Population
• Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population
• Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports
• Knobloch syndrome caused by homozygous frameshift mutation of the <em>COL18A1</em> gene in a Chinese pedigree
• Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
• Knobloch syndrome in a patient from Chile
• Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic <em>COL18A1</em> Mutation: Case-Based Review
• Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review
• Knobloch syndrome on multimodal imaging: a case report
• Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report
• Knobloch syndrome: a case report
• Knobloch syndrome: a rare cause of paediatric retinal detachment
• Knobloch syndrome: novel intra-oral findings
• Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
• Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation
• Lessons Learned From Outbreaks of Shiga Toxin Producing Escherichia coli
• Locus heterogeneity and Knobloch syndrome
• Low SARS-CoV-2 infection rates and high vaccine-induced immunity among German healthcare workers at the end of the third wave of the COVID-19 pandemic
• Lower-Extremity Rehabilitation
• Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome
• Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2
• Molecular and Clinical Findings in Patients With Knobloch Syndrome
• Mutations in collagen 18A1 and their relevance to the human phenotype
• Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings
• NAFLD, Insulin Resistance, and Diabetes Mellitus Type 2
• New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2
• No evidence for locus heterogeneity in Knobloch syndrome
• Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development
• Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
• Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome
• Optical Coherence Tomography in Knobloch Syndrome
• Paediatric retinal detachment and hereditary vitreoretinal disorders
• Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye
• Physiological role of collagen XVIII and endostatin
• Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1
• Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism
• Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome
• SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
• Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature
• Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line
• Surgical decompression of the lower leg in painful diabetic polyneuropathy
• Surgical Outcomes of Retinal Detachment in Knobloch Syndrome
• Syndromes, disorders and maternal risk factors associated with neural tube defects (V)
• The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
• The distinct ophthalmic phenotype of Knobloch syndrome in children
• The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome
• The multiple functions of collagen XVIII in development and disease
• The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18
• Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report
• Three cases of molecularly confirmed Knobloch syndrome
• Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
• Unexpected matrix diseases and novel therapeutic strategies
• Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
• Validation of treatment strategies for enterohaemorrhagic Escherichia coli O104:H4 induced haemolytic uraemic syndrome: case-control study
• Variable phenotype of Knobloch syndrome due to biallelic <em>COL18A1</em> mutations in children
• Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children
• Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability
• Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis