Latos-Bielenska A - Search Results

1

A novel form of ischio-vertebral syndrome.

Kaissi AA, Chehida FB, Latos-Bielenska A, Gharbi H, Ghachem MB, Hendaoui L, Kozlowski K. Kaissi AA, et al. Skeletal Radiol. 2007 Jan;36(1):77-81. doi: 10.1007/s00256-005-0073-1. Epub 2006 Mar 18. Skeletal Radiol. 2007. PMID: 16547749

2

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K. Badura-Stronka M, et al. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25776145

3

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883

4

Pachydermoperiostosis-critical analysis with report of five unusual cases.

Latos-Bielenska A, Marik I, Kuklik M, Materna-Kiryluk A, Povysil C, Kozlowski K. Latos-Bielenska A, et al. Eur J Pediatr. 2007 Dec;166(12):1237-43. doi: 10.1007/s00431-006-0407-6. Epub 2007 Feb 7. Eur J Pediatr. 2007. PMID: 17285282

5

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T. Jamsheer A, et al. J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030147

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

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.

8

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Sowińska-Seidler A, Badura-Stronka M, Latos-Bieleńska A, Stronka M, Jamsheer A. Sowińska-Seidler A, et al. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25196357

9

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2012 Nov;53(4):415-22. doi: 10.1007/s13353-012-0109-x. Epub 2012 Aug 18. J Appl Genet. 2012. PMID: 22903559 Free PMC article.

10

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A. Jamsheer A, et al. BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13. BMC Med Genet. 2013. PMID: 23342975 Free PMC article.

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