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Items: 1 to 20 of 1000

1.
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
Timo Hinrichs, Andrea Superti-Furga, Wolf-Dieter Scheiderer, Luisa Bonafé, Rolf E Brenner, Thomas Mattes
BMC Musculoskelet Disord. 2010; 11: 110. Published online 2010 Jun 3. doi: 10.1186/1471-2474-11-110
PMCID:
PMC2902411
AbstractArticlePDF–1.1M
2.
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
Sang Gyo Seo, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Moon Seok Park, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Ok-Hwa Kim, Sung Sup Park, In Ho Choi, Tae-Joon Cho
BMC Musculoskelet Disord. 2014; 15: 84. Published online 2014 Mar 15. doi: 10.1186/1471-2474-15-84
PMCID:
PMC3984757
AbstractArticlePDF–1.0M
3.
Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies
Takaki Kitamura, Shuji Yamazaki, Takehiro Kijima, Yasuyuki Takamori, Eiichiro Watanabe
Cureus. 2024 Apr; 16(4): e58906. Published online 2024 Apr 24. doi: 10.7759/cureus.58906
PMCID:
PMC11118780
AbstractArticlePDF–550K
4.
The orthopaedic aspects of multiple epiphyseal dysplasia
A. Sebik, F. Sebik, E. Kutluay, F. Kuyurtar, Y. Ademoğlu
Int Orthop. 1998 Dec; 22(6): 417–421. doi: 10.1007/s002640050291
PMCID:
PMC3619669
SummaryPDF–176K
5.
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Gail C Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A Taylor, Michael D Briggs
Am J Med Genet A. 2010 Apr; 152A(4): 863–869. Published online 2012 Mar 26. doi: 10.1002/ajmg.a.33240
PMCID:
PMC3557369
AbstractArticlePDF–202K
6.
Reliability of Lower-limb Alignment Measurements in Patients With Multiple Epiphyseal Dysplasia
Bekhzad Akhmedov, Ki Hyuk Sung, Chin Youb Chung, Kyoung Min Lee, Moon Seok Park
Clin Orthop Relat Res. 2012 Dec; 470(12): 3566–3576. Published online 2012 Sep 5. doi: 10.1007/s11999-012-2548-4
PMCID:
PMC3492612
AbstractArticlePDF–686K
7.
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali
Orphanet J Rare Dis. 2012; 7: 27. Published online 2012 May 15. doi: 10.1186/1750-1172-7-27
PMCID:
PMC3492204
AbstractArticlePDF–1.6M
8.
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
Shan Li, Yueyang Sheng, Xinyu Wang, Qianqian Wang, Ying Wang, Yanzhuo Zhang, Chengai Wu, Xu Jiang
Orphanet J Rare Dis. 2024; 19: 245. Published online 2024 Jul 2. doi: 10.1186/s13023-024-03228-4
PMCID:
PMC11220988
AbstractArticlePDF–3.7M
9.
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
Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs
Hum Mutat. 2012 Jan; 33(1): 144–157. Published online 2011 Sep 15. doi: 10.1002/humu.21611
PMCID:
PMC3272220
AbstractArticlePDF–428K
10.
Multiple epiphyseal dysplasia in children: Beware of overtreatment!
Salem Bajuifer, Merv Letts
Can J Surg. 2005 Apr; 48(2): 106–109.
PMCID:
PMC3211605
AbstractArticlePDF–202K
11.
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
Changhoon Jeong, Jae Young Lee, Jiyeon Kim, Hyojin Chae, Hae-il Park, Myungshin Kim, Ok-Hwa Kim, Paul Kim, Young Kee Lee, Jongsun Jung
BMC Musculoskelet Disord. 2014; 15: 371. Published online 2014 Nov 8. doi: 10.1186/1471-2474-15-371
PMCID:
PMC4236474
AbstractArticlePDF–1.2M
12.
Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
Tae-Joon Cho, Ok-Hwa Kim, Hye-Ran Lee, Sung Jin Shin, Won Joon Yoo, Woong Yang Park, Sung Sup Park, Sung Im Cho, In Ho Choi
J Korean Med Sci. 2010 Jul; 25(7): 1105–1108. Published online 2010 Jun 16. doi: 10.3346/jkms.2010.25.7.1105
PMCID:
PMC2890895
AbstractArticlePDF–1.0M
13.
Multiple epiphyseal dysplasia: A clinical and genetic study of 12 cases in a Swedish 6-generation family
Johanna Dahlqvist, Hanna Örlén, Hans Matsson, Niklas Dahl, Torsten LÖnnerholm, Karl-Henrik Gustavson
Acta Orthop. 2009 Dec 4; 80(6): 711–715. Published online 2009 Dec 4. doi: 10.3109/17453670903473032
PMCID:
PMC2823319
AbstractArticlePDF–815K
14.
Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome
Shantala J., Zalak Upadhyay, Vani H. N., Santhosh Olety Sathyanarayana, Raghupathy Palany, Shruthi J.
J Pediatr Genet. 2024 Sep; 13(3): 185–189. Published online 2023 Apr 18. doi: 10.1055/s-0043-57005
PMCID:
PMC11288704
AbstractArticlePDF–557K
15.
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
Sally L Cotterill, Gail C Jackson, Matthew P Leighton, Raimund Wagener, Outi Mäkitie, William G Cole, Michael D Briggs
Hum Mutat. 2005 Dec; 26(6): 557–565. doi: 10.1002/humu.20263
PMCID:
PMC2726956
AbstractArticlePDF–333K
16.
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Michael J Wright, Dian Donnai, Rob Elles, Michael D Briggs
Eur J Hum Genet. Author manuscript; available in PMC 2009 Apr 24.
Published in final edited form as: Eur J Hum Genet. 2005 May; 13(5): 547–555. doi: 10.1038/sj.ejhg.5201374
PMCID:
PMC2673054
AbstractArticlePDF–306K
17.
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
Andreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles, Geert R Mortier, Jurgen Spranger, Bernhard Zabel, Sheila Unger, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Michael J Wright, Luisa Bonafe, Andrea Superti-Furga, Michael D Briggs
Eur J Hum Genet. Author manuscript; available in PMC 2009 Apr 20.
Published in final edited form as: Eur J Hum Genet. 2007 Feb; 15(2): 150–154. Published online 2006 Nov 29. doi: 10.1038/sj.ejhg.5201744
PMCID:
PMC2670452
AbstractArticlePDF–415K
18.
Perthes' disease and multiple epiphyseal dysplasia.
H. E. Griffiths, P. J. Witherow
Postgrad Med J. 1977 Aug; 53(622): 464–472. doi: 10.1136/pgmj.53.622.464
PMCID:
PMC2496740
SummaryPage BrowsePDF–2.0M
19.
Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report
RK Trehan, N Dabbas, D Allwood, M Agarwal, C Kinmont
J Med Case Reports. 2008; 2: 172. Published online 2008 May 22. doi: 10.1186/1752-1947-2-172
PMCID:
PMC2412893
AbstractArticlePDF–439K
20.
Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED)
Annemieke Milants, Michel De Maeseneer, Johan De Mey
J Belg Soc Radiol. 2017; 101(1): 8. Published online 2017 Feb 2. doi: 10.5334/jbr-btr.1219
PMCID:
PMC5854308
AbstractArticlePDF–1.6M

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