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Similar articles for PubMed (Select 22052783)

1.

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
2.

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.

Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.

J Hum Genet. 2008;53(8):764-8. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14.

PMID:
18553123
3.

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. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16.

4.

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
5.

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Unger S, Bonafé L, Superti-Furga A.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):19-32. doi: 10.1016/j.berh.2007.11.009. Review.

PMID:
18328978
6.
7.

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
8.

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

Vatanavicharn N, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313.

PMID:
18546327
9.

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A.

J Med Genet. 2003 Jan;40(1):65-71. No abstract available.

10.

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

Macías-Gómez NM, Mégarbané A, Leal-Ugarte E, Rodríguez-Rojas LX, Barros-Núñez P.

Am J Med Genet A. 2004 Aug 30;129A(2):190-2.

PMID:
15316973
11.

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L.

Am J Hum Genet. 2001 Nov;69(5):969-80. Epub 2001 Sep 14.

12.

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.

García MM, Velez C, Fenollar-Cortés M, Bustamante A, Lorda-Sanchez I, Soriano-Guillén L, Trujillo-Tiebas MJ.

Am J Med Genet A. 2014 Apr;164A(4):1075-8. doi: 10.1002/ajmg.a.36378. Epub 2014 Jan 23. No abstract available.

PMID:
24458706
14.

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG.

Am J Med Genet A. 2003 Oct 15;122A(3):187-92.

PMID:
12966518
15.

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
16.
17.

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
18.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD.

Eur J Hum Genet. 2007 Feb;15(2):150-4. Epub 2006 Nov 29.

19.

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M.

J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. No abstract available.

PMID:
22499343
20.

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.

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