Disease: Stickler syndrome- type 2
- A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
- A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
- A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia
- A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures
- Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
- Auditory dysfunction in type 2 Stickler Syndrome
- Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance
- Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults
- Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
- Exon-Trapping Assay Improves Clinical Interpretation of <em>COL11A1</em> and <em>COL11A2</em> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
- Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
- FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1
- Focus on molecules: collagens V and XI
- Genetics of the pediatric glaucomas
- Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2
- Laser Prophylaxis in Patients with Stickler Syndrome
- LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021
- Marshall and stickler syndrome in one family
- Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1
- Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
- Outcomes in Retinal Detachment Repair and Laser Prophylaxis for Syndromes with Optically Empty Vitreous
- Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences
- Stickler syndrome type 2 and linkage to the COL11A1 gene
- Syndromes associated with Robin sequence: a national prospective cohort study
- The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia
- The Incidence of Velopharyngeal Insufficiency in Stickler Syndrome
- THE PROPHYLAXIS OF FELLOW-EYE RETINAL DETACHMENT IN STICKLER SYNDROME: A RETROSPECTIVE SERIES
- Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome
- Window of Susceptibility to Acute Otitis Media Infection
- Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development