Pages that link to "Q1452604"
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The following pages link to multiple epiphyseal dysplasia (Q1452604):
Displaying 50 items.
- (Q1230247) (redirect page) (← links)
- autosomal recessive multiple epiphyseal dysplasia (Q3042144) (← links)
- Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report (Q21093302) (← links)
- Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report (Q21202124) (← links)
- Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. (Q22009971) (← links)
- Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX (Q24290529) (← links)
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene (Q24337332) (← links)
- A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity (Q24536139) (← links)
- COL9A3: A third locus for multiple epiphyseal dysplasia (Q24540189) (← links)
- Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution (Q24596742) (← links)
- A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia (Q24642755) (← links)
- Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 (Q24651381) (← links)
- A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy (Q24671376) (← links)
- Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia (Q24672437) (← links)
- Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene (Q24672816) (← links)
- Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19 (Q24673288) (← links)
- Multiple Epiphyseal Dysplasia, Autosomal Dominant (Q26863578) (← links)
- Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia (Q28139606) (← links)
- Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia (Q28144865) (← links)
- Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2) (Q28203264) (← links)
- Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments (Q28206799) (← links)
- Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations (Q28215523) (← links)
- Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein (Q28240762) (← links)
- Multiple epiphyseal dysplasia in children: beware of overtreatment! (Q28250032) (← links)
- A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) (Q28270822) (← links)
- High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12 (Q28284430) (← links)
- MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia (Q28289481) (← links)
- Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2) (Q28294048) (← links)
- Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia (Q28295527) (← links)
- Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family (Q28302994) (← links)
- Genetic heterogeneity in multiple epiphyseal dysplasia (Q30445330) (← links)
- Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. (Q31154022) (← links)
- Patellar hypertrophy: rare abnormality associated with a multiple epiphyseal dysplasia (Q33367645) (← links)
- Inheritance of multiple epiphyseal dysplasia, tarda (Q35231793) (← links)
- Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report (Q35404772) (← links)
- Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. (Q35437570) (← links)
- Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation (Q35571074) (← links)
- Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation (Q36030751) (← links)
- COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia (Q36065648) (← links)
- A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance (Q36380533) (← links)
- Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia (Q36381719) (← links)
- Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis (Q37105368) (← links)
- Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia (Q39314543) (← links)
- Multiple epiphyseal dysplasia: a review of the literature and case report (Q40022190) (← links)
- Double patella syndrome with a form of multiple epiphyseal dysplasia (Q40434843) (← links)
- Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? (Q40523645) (← links)
- Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type (Q40793457) (← links)
- Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family (Q41001458) (← links)
- A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix (Q41485424) (← links)
- Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age (Q41885345) (← links)