| 1 |
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report. ( 29724173
)
|
Zhou T....Su P.
|
2018 |
| 2 |
Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 29162415
)
|
Lin W.D....Tsai F.J.
|
2017 |
| 3 |
Modyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report. ( 28860685
)
|
Yoshida T....Kubo T.
|
2017 |
| 4 |
Hybrid total hip arthroplasty for multiple epiphyseal dysplasia. ( 29274861
)
|
Vanlommel J....Simon J.P.
|
2017 |
| 5 |
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. ( 28051032
)
|
Liu H.Y....Yu Z.H.
|
2017 |
| 6 |
Tissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia. ( 26740422
)
|
Kamei G....Ochi M.
|
2016 |
| 7 |
Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia. ( 27354941
)
|
Koch J.E....Hetsroni I.
|
2016 |
| 8 |
The fate of hips that are conservatively treated in multiple epiphyseal dysplasia. ( 27398645
)
|
Kim S.J....Song H.R.
|
2016 |
| 9 |
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. ( 26920793
)
|
Sakamoto Y....Ikegawa S.
|
2016 |
| 10 |
Multiple Epiphyseal Dysplasia. ( 25667404
)
|
Anthony S....Masini M.
|
2015 |
| 11 |
Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia. ( 26649258
)
|
Cladiere-Nassif V....Feron J.M.
|
2015 |
| 12 |
Single-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report. ( 29252592
)
|
Song E.K....Agrawal P.R.
|
2015 |
| 13 |
Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia. ( 23934641
)
|
Wang D....He X.
|
2014 |
| 14 |
Assessment of skeletal age in multiple epiphyseal dysplasia. ( 25210941
)
|
Park K.W....Song H.R.
|
2014 |
| 15 |
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. ( 24629099
)
|
Seo S.G....Cho T.J.
|
2014 |
| 16 |
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia. ( 24458706
)
|
GarcA-a M.M....Trujillo-Tiebas M.J.
|
2014 |
| 17 |
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. ( 25381065
)
|
Jeong C....Jung J.
|
2014 |
| 18 |
SLC26A2 disease spectrum in SwedenA -A high frequency of recessive multiple epiphyseal dysplasia (rMED). ( 24598000
)
|
MAokitie O....Nordgren A.
|
2014 |
| 19 |
Multiple epiphyseal dysplasia. ( 24640208
)
|
Santra G....Sarkar R.N.
|
2013 |
| 20 |
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. ( 23506586
)
|
Liu F.X....Yu M.X.
|
2013 |
| 21 |
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. ( 23840040
)
|
Zechi-Ceide R.M....Guion-Almeida M.L.
|
2013 |
| 22 |
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation. ( 22083516
)
|
Bell P.A....Briggs M.D.
|
2012 |
| 23 |
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. ( 22948526
)
|
Akhmedov B....Park M.S.
|
2012 |
| 24 |
Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result. ( 21559955
)
|
Taketomi S....Nakamura K.
|
2012 |
| 25 |
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. ( 22587682
)
|
Ali B.R....Al-Gazali L.
|
2012 |
| 26 |
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? ( 23431744
)
|
Karaer K....Guran S.
|
2012 |
| 27 |
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. ( 21922596
)
|
Jackson G.C....Briggs M.D.
|
2012 |
| 28 |
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. ( 21965141
)
|
Kim O.H....Park S.S.
|
2011 |
| 29 |
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. ( 21691226
)
|
Roy D.R.
|
2011 |
| 30 |
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. ( 21598888
)
|
Li L.Y....Li Q.W.
|
2011 |
| 31 |
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. ( 22052783
)
|
Lacassie Y....Lazarin G.A.
|
2011 |
| 32 |
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. ( 21204225
)
|
Bedoyan J.K....Misra V.K.
|
2011 |
| 33 |
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. ( 20525296
)
|
Hinrichs T....Mattes T.
|
2010 |
| 34 |
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. ( 20358595
)
|
Jackson G.C....Briggs M.D.
|
2010 |
| 35 |
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. ( 20428984
)
|
Nundlall S....Briggs M.D.
|
2010 |
| 36 |
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. ( 20357323
)
|
Ramaswamy R....Cameron H.
|
2010 |
| 37 |
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 19808781
)
|
PirA^g K.A....Briggs M.D.
|
2010 |
| 38 |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. ( 20592910
)
|
Cho T.J....Choi I.H.
|
2010 |
| 39 |
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. ( 19098647
)
|
Cho T.J....Lee D.Y.
|
2009 |
| 40 |
Multiple epiphyseal dysplasia. ( 19995321
)
|
Dahlqvist J....Gustavson K.H.
|
2009 |
| 41 |
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. ( 18789631
)
|
Pavone V....Sessa G.
|
2009 |
| 42 |
Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia. ( 18534387
)
|
Lim S.J....Seo J.G.
|
2009 |
| 43 |
Five patients in a Chinese family with multiple epiphyseal dysplasia. ( 19781400
)
|
Liu F.X....Cao J.
|
2009 |
| 44 |
[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. ( 18487141
)
|
Wang J.J....Guo Y.B.
|
2008 |
| 45 |
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. ( 18328978
)
|
Unger S....Superti-Furga A.
|
2008 |
| 46 |
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. ( 18553123
)
|
Miyake A....Ikegawa S.
|
2008 |
| 47 |
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). ( 18710316
)
|
RA...Lingaas F.
|
2008 |
| 48 |
What is your diagnosis? Multiple epiphyseal dysplasia. ( 19180712
)
|
Agut A....BuendA-a A.
|
2008 |
| 49 |
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. ( 18338162
)
|
Pazzaglia U.E....Zarattini G.
|
2008 |
| 50 |
Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report. ( 18498631
)
|
Trehan R.K....Kinmont C.
|
2008 |
