Susic M - 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: susic m. 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: susic m. 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

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: susic m. J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15. J Rheumatol. 2008. PMID: 18381781

4

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: susic m. J Orthop Res. 2010 Nov;28(11):1497-501. doi: 10.1002/jor.21161. J Orthop Res. 2010. PMID: 20872587 Free article.

5

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: susic m. 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.

6

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: susic m. Eur J Hum Genet. 2005 Mar;13(3):292-301. doi: 10.1038/sj.ejhg.5201314. Eur J Hum Genet. 2005. PMID: 15523498

7

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Michalickova K, et al. Among authors: susic m. Hum Mol Genet. 1998 Feb;7(2):249-55. doi: 10.1093/hmg/7.2.249. Hum Mol Genet. 1998. PMID: 9425231

8

Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.

Laine CM, Koltin D, Susic M, Varley TL, Daneman A, Moineddin R, Cole WG, Mäkitie O, Sochett E. Laine CM, et al. Among authors: susic m. Am J Med Genet A. 2012 Jun;158A(6):1252-61. doi: 10.1002/ajmg.a.35278. Epub 2012 Apr 17. Am J Med Genet A. 2012. PMID: 22511589

9

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.

Hecht JT, Makitie O, Hayes E, Haynes R, Susic M, Montufar-Solis D, Duke PJ, Cole WG. Hecht JT, et al. Among authors: susic m. J Orthop Res. 2004 Jul;22(4):759-67. doi: 10.1016/j.orthres.2003.11.010. J Orthop Res. 2004. PMID: 15183431 Free article.

10

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O. Laine CM, et al. Among authors: susic m. Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407258 Free PMC article.

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