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Results: 1 to 20 of 34

1.

Multiple epiphyseal dysplasia.

Santra G, Banerjee S, Sarkar RN.

J Assoc Physicians India. 2013 Jun;61(6):408-9. No abstract available.

PMID:
24640208
[PubMed - indexed for MEDLINE]
2.

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.

Hartley CL, Edwards S, Mullan L, Bell PA, Fresquet M, Boot-Handford RP, Briggs MD.

Hum Mol Genet. 2013 Dec 20;22(25):5262-75. doi: 10.1093/hmg/ddt383. Epub 2013 Aug 15.

PMID:
23956175
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML.

Am J Med Genet A. 2013 Aug;161A(8):2088-94. doi: 10.1002/ajmg.a.36057. Epub 2013 Jul 9.

PMID:
23840040
[PubMed - indexed for MEDLINE]
4.

EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia.

Liu FX, Li YX, Zhang XD, Ren CA, Huang SZ, Yu MX.

Chin Med J (Engl). 2013 Mar;126(6):1103-7.

PMID:
23506586
[PubMed - indexed for MEDLINE]
Free Article
5.

Anteromedial wedge reduction osteotomy 
for the treatment of femoral head deformities.

Burian M, Dungl P, Nanka O, Chomiak J, Ostadal M, Frydrychova M, Kubes R.

Hip Int. 2013 May-Jun;23(3):281-6. doi: 10.5301/hipint.5000017. Epub 2013 Mar 5.

PMID:
23475419
[PubMed - indexed for MEDLINE]
Free Article
6.

Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?

Karaer K, Rosti RO, Torun D, Sanal HT, Guran S.

Genet Couns. 2012;23(4):457-63.

PMID:
23431744
[PubMed - indexed for MEDLINE]
7.

Wolcott-Rallison syndrome.

Juneja A, Sultan A, Bhatnagar S.

J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019.

PMID:
23263430
[PubMed - indexed for MEDLINE]
Free Article
8.

Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia.

Akhmedov B, Sung KH, Chung CY, Lee KM, Park MS.

Clin Orthop Relat Res. 2012 Dec;470(12):3566-76. doi: 10.1007/s11999-012-2548-4. Epub 2012 Sep 5.

PMID:
22948526
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L.

Orphanet J Rare Dis. 2012 May 15;7:27. doi: 10.1186/1750-1172-7-27.

PMID:
22587682
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.

Lacassie Y, Storment JM, Lazarin GA.

Am J Med Genet A. 2011 Dec;155A(12):3136-8. doi: 10.1002/ajmg.a.34306. Epub 2011 Nov 3. No abstract available.

PMID:
22052783
[PubMed - indexed for MEDLINE]
11.

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS.

Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30.

PMID:
21965141
[PubMed - indexed for MEDLINE]
12.

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.

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.

Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.

PMID:
21922596
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene.

Li H, Haudenschild DR, Posey KL, Hecht JT, Di Cesare PE, Yik JH.

Osteoarthritis Cartilage. 2011 Oct;19(10):1246-53. doi: 10.1016/j.joca.2011.07.011. Epub 2011 Jul 29.

PMID:
21843649
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.

Mu SC, Lin YJ, Liu HC, Wu JY, Li SC, Michael Lee MT, Chou CH, Chen LK, Chen YT.

Ann Hum Genet. 2011 Sep;75(5):575-83. doi: 10.1111/j.1469-1809.2011.00667.x.

PMID:
21834907
[PubMed - indexed for MEDLINE]
15.

Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia.

Roy DR.

J Pediatr Orthop B. 2011 Sep;20(5):284-6. doi: 10.1097/BPB.0b013e3283484bfb.

PMID:
21691226
[PubMed - indexed for MEDLINE]
16.

Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood.

Li LY, Zhao Q, Ji SJ, Zhang LJ, Li QW.

Orthopedics. 2011 May 18;34(5):352. doi: 10.3928/01477447-20110317-03.

PMID:
21598888
[PubMed - indexed for MEDLINE]
17.

Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result.

Taketomi S, Hiraoka H, Nakagawa T, Miyamoto Y, Kuribayashi S, Fukuda A, Takeda H, Fukai A, Hirota J, Nakajima K, Haga N, Nakamura K.

J Orthop Sci. 2012 Jul;17(4):507-11. doi: 10.1007/s00776-011-0096-5. Epub 2011 May 11. No abstract available.

PMID:
21559955
[PubMed - indexed for MEDLINE]
18.

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G.

Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7.

PMID:
21518408
[PubMed - indexed for MEDLINE]
19.

Sulfate in fetal development.

Dawson PA.

Semin Cell Dev Biol. 2011 Aug;22(6):653-9. doi: 10.1016/j.semcdb.2011.03.004. Epub 2011 Mar 17. Review.

PMID:
21419855
[PubMed - indexed for MEDLINE]
20.

Fusion of double-layered patella using a single small fragment partially threaded screw: a case report.

Leng HC, Foster P, Templeton PA.

J Pediatr Orthop. 2011 Mar;31(2):e9-e12. doi: 10.1097/BPO.0b013e318207454b.

PMID:
21307701
[PubMed - indexed for MEDLINE]

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