Pages that link to "Q57334320"

The following pages link to Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes (Q57334320):

Displaying 33 items.

• A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish (Q27301818) (← links)
• Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators (Q28271052) (← links)
• A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) (← links)
• Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
• The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
• Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (Q34248693) (← links)
• Clinical relevance of fascial tissue and dysfunctions. (Q34426391) (← links)
• Neuromuscular involvement in various types of Ehlers-Danlos syndrome (Q34989246) (← links)
• ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
• Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family (Q36173021) (← links)
• Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? (Q36244493) (← links)
• Spontaneous keloid formation in patients with Bethlem myopathy (Q36439237) (← links)
• COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy (Q36850304) (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
• Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy (Q37632993) (← links)
• Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. (Q37685735) (← links)
• The Ehlers-Danlos syndrome, a disorder with many faces (Q37986887) (← links)
• A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. (Q38724588) (← links)
• Ehlers-Danlos syndrome, classical type (Q38758151) (← links)
• Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy (Q39634474) (← links)
• Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice (Q41916228) (← links)
• Dermal ultrastructure in collagen VI myopathy (Q45734482) (← links)
• Genetic and Clinical Advances of Congenital Muscular Dystrophy (Q46563168) (← links)
• Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy (Q47096174) (← links)
• In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface (Q47995528) (← links)
• Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria (Q49160999) (← links)
• Type VI Collagen Regulates Dermal Matrix Assembly and Fibroblast Motility. (Q51563382) (← links)
• Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature. (Q52624722) (← links)
• Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation. (Q53805152) (← links)
• [Ehlers Danlos syndrome] (Q81318430) (← links)
• Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations (Q89696735) (← links)
• Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome (Q91747684) (← links)
• The Ehlers-Danlos syndromes (Q98176931) (← links)