Czarny-Ratajczak M - Search Results

1

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. Czarny-Ratajczak M, et al. Am J Med Genet A. 2010 Dec;152A(12):3036-42. doi: 10.1002/ajmg.a.33707. Am J Med Genet A. 2010. PMID: 21077204

2

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].

Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A. Czarny-Ratajczak M, et al. Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Chir Narzadow Ruchu Ortop Pol. 2001. PMID: 11481990 Review. Polish.

3

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. Czarny-Ratajczak M, et al. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14. Am J Hum Genet. 2001. PMID: 11565064 Free PMC article.

4

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. Jackson GC, et al. J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429. J Med Genet. 2004. PMID: 14729835 Free PMC article. No abstract available.

5

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. 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

6

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

Sulko J, Czarny-Ratajczak M, Wozniak A, Latos-Bielenska A, Kozlowski K. Sulko J, et al. Am J Med Genet A. 2005 Sep 1;137A(3):292-7. doi: 10.1002/ajmg.a.30881. Am J Med Genet A. 2005. PMID: 16088915

7

Severe neonatal spondylometaphyseal dysplasia in two siblings.

Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K. Czarny-Ratajczak M, et al. Am J Med Genet A. 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016. Am J Med Genet A. 2009. PMID: 19764033

8

A new form or a variant of SMD type A4.

Marik I, Hudakova O, Petrasova S, Kuszel L, Czarny-Ratajczak M, Kozlowski K. Marik I, et al. J Appl Genet. 2012 Aug;53(3):289-94. doi: 10.1007/s13353-012-0094-0. Epub 2012 Apr 24. J Appl Genet. 2012. PMID: 22528043 Free PMC article. No abstract available.

9

Three new patients with FATCO: fibular agenesis with ectrodactyly.

Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, Czarny-Ratajczak M. Bieganski T, et al. Among authors: czarny ratajczak m. Am J Med Genet A. 2012 Jul;158A(7):1542-50. doi: 10.1002/ajmg.a.35369. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628253

10

Osteoarthritis and telomere shortening.

Kuszel L, Trzeciak T, Richter M, Czarny-Ratajczak M. Kuszel L, et al. Among authors: czarny ratajczak m. J Appl Genet. 2015 May;56(2):169-76. doi: 10.1007/s13353-014-0251-8. Epub 2014 Nov 4. J Appl Genet. 2015. PMID: 25366419 Free PMC article. Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

25 results

Search Page