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Results: 1 to 20 of 45

Select item 234317441.

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]

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Select item 229485262.

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]

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Select item 225876823.

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

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Select item 220527834.

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]

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Select item 219651415.

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]

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Select item 219225966.

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

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Select item 218436497.

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]

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Select item 218349078.

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]

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Select item 216912269.

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]

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Select item 2159888810.

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]

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Select item 2155995511.

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]

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Select item 2151840812.

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]

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Select item 2141985513.

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]

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Select item 2130770114.

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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Select item 2120422515.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Bedoyan JK, Lesperance MM, Ackley T, Iyer RK, Innis JW, Misra VK.

Am J Med Genet A. 2011 Jan;155A(1):154-63. doi: 10.1002/ajmg.a.33751. Epub 2010 Dec 10.

PMID:: 21204225; [PubMed - indexed for MEDLINE]

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Select item 2116336516.

The matrilins: modulators of extracellular matrix assembly.

Klatt AR, Becker AK, Neacsu CD, Paulsson M, Wagener R.

Int J Biochem Cell Biol. 2011 Mar;43(3):320-30. doi: 10.1016/j.biocel.2010.12.010. Epub 2010 Dec 14. Review.

PMID:: 21163365; [PubMed - indexed for MEDLINE]

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Select item 2115576317.

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L.

Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13.

PMID:: 21155763; [PubMed - indexed for MEDLINE]

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Select item 2107720418.

New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K.

Am J Med Genet A. 2010 Dec;152A(12):3036-42. doi: 10.1002/ajmg.a.33707.

PMID:: 21077204; [PubMed - indexed for MEDLINE]

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Select item 2107720219.

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM.

Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Review.

PMID:: 21077202; [PubMed - indexed for MEDLINE]

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Select item 2093663420.

A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis.

Hansen U, Platz N, Becker A, Bruckner P, Paulsson M, Zaucke F.

Arthritis Rheum. 2011 Jan;63(1):159-67. doi: 10.1002/art.30073.

PMID:: 20936634; [PubMed - indexed for MEDLINE]

Free Article

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10 free full-text articles in PubMed Central

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. [Orphanet J Rare Dis. 2012]
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. Epub 2012 May 15.
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. [Hum Mutat. 2012]
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, et al. Hum Mutat. 2012 Jan; 33(1):144-57. Epub 2011 Oct 31.
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. [J Korean Med Sci. 2010]
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH. J Korean Med Sci. 2010 Jul; 25(7):1105-8. Epub 2010 Jun 16.

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