Kozlowski K - Search Results

1

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK. Kim SJ, et al. Among authors: kozlowski k. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9. Hum Genet. 2011. PMID: 21221996

2

A boy with severe craniodiaphyseal dysplasia and apparently normal mother.

Bieganski T, Baranska D, Miastkowska I, Kobielski A, Gorska-Chrzastek M, Kozlowski K. Bieganski T, et al. Among authors: kozlowski k. Am J Med Genet A. 2007 Oct 15;143A(20):2435-43. doi: 10.1002/ajmg.a.31938. Am J Med Genet A. 2007. PMID: 17853455

3

Proteus syndrome (report of three cases).

Nishimura G, Kozlowski K. Nishimura G, et al. Among authors: kozlowski k. Australas Radiol. 1990 Feb;34(1):47-52. doi: 10.1111/j.1440-1673.1990.tb02807.x. Australas Radiol. 1990. PMID: 2357192 No abstract available.

4

Osteosclerotic metaphyseal dysplasia.

Nishimura G, Kozlowski K. Nishimura G, et al. Among authors: kozlowski k. Pediatr Radiol. 1993;23(6):450-2. doi: 10.1007/BF02012448. Pediatr Radiol. 1993. PMID: 8255649

5

Rhizomelic spondyloepimetaphyseal dysplasia.

Bieganski T, Lipczyk Z, Kozlowski K. Bieganski T, et al. Among authors: kozlowski k. Clin Dysmorphol. 2001 Oct;10(4):285-8. doi: 10.1097/00019605-200110000-00010. Clin Dysmorphol. 2001. PMID: 11666005

6

SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

Bieganski T, Beighton P, Lukaszewski M, Bik K, Kuszel L, Wasilewska E, Kozlowski K, Czarny-Ratajczak M. Bieganski T, et al. Among authors: kozlowski k. Eur J Med Genet. 2017 Oct;60(10):509-516. doi: 10.1016/j.ejmg.2017.07.004. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687525 Free PMC article.

7

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. Among authors: kozlowski k. 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

8

Osteochondrodystrophies with marked platyspondyly and distinctive peripheral anomalies.

Kozlowski K, Bieganski T, Gardner J, Beighton P. Kozlowski K, et al. Pediatr Radiol. 1999 Jan;29(1):1-5. doi: 10.1007/s002470050522. Pediatr Radiol. 1999. PMID: 9880606

9

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.

Bieganski T, Dawydzik B, Kozlowski K. Bieganski T, et al. Among authors: kozlowski k. Eur J Pediatr. 1999 Oct;158(10):809-14. doi: 10.1007/s004310051211. Eur J Pediatr. 1999. PMID: 10486082

10

Brachytelephalangic chondrodysplasia punctata.

Bieganski T, Kozlowski K. Bieganski T, et al. Among authors: kozlowski k. Australas Radiol. 1998 Aug;42(3):244-5. doi: 10.1111/j.1440-1673.1998.tb00506.x. Australas Radiol. 1998. PMID: 9727255 Review.

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