Cole WG - Search Results

1

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. Mäkitie O, et al. Among authors: cole wg. Am J Med Genet A. 2003 Oct 15;122A(3):187-92. doi: 10.1002/ajmg.a.20282. Am J Med Genet A. 2003. PMID: 12966518

2

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG. Mäkitie O, et al. Among authors: cole wg. Am J Med Genet A. 2005 Sep 1;137A(3):241-8. doi: 10.1002/ajmg.a.30855. Am J Med Genet A. 2005. PMID: 16088909

3

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Mäkitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG. Mäkitie O, et al. Among authors: cole wg. Am J Med Genet A. 2004 Mar 15;125A(3):278-84. doi: 10.1002/ajmg.a.20486. Am J Med Genet A. 2004. PMID: 14994237

4

Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.

Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG. Avcin T, et al. Among authors: cole wg. J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15. J Rheumatol. 2008. PMID: 18381781

5

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H. Mäkitie O, et al. Among authors: cole wg. J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105. J Bone Miner Res. 2010. PMID: 20499351 Free PMC article.

6

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.

Mäkitie O, Susic M, Cole WG. Mäkitie O, et al. Among authors: cole wg. J Orthop Res. 2010 Nov;28(11):1497-501. doi: 10.1002/jor.21161. J Orthop Res. 2010. PMID: 20872587 Free article.

7

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. Ballhausen D, et al. Among authors: cole wg. J Med Genet. 2003 Jan;40(1):65-71. doi: 10.1136/jmg.40.1.65. J Med Genet. 2003. PMID: 12525546 Free PMC article. No abstract available.

8

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O. Ridanpää M, et al. Among authors: cole wg. J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741. J Med Genet. 2003. PMID: 14569119 Free PMC article.

9

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG. Mäkitie O, et al. Among authors: cole wg. Clin Genet. 2004 Feb;65(2):101-12. doi: 10.1111/j.0009-9163.2004.00198.x. Clin Genet. 2004. PMID: 14984468

10

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.

Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. Jakkula E, et al. Among authors: cole wg. Eur J Hum Genet. 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. Eur J Hum Genet. 2005. PMID: 15523498

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