Latos-Bieleńska A - Search Results

1

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

Badura-Stronka M, Jamsheer A, Materna-Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos-Bieleńska A. Badura-Stronka M, et al. Clin Genet. 2010 Feb;77(2):141-4. doi: 10.1111/j.1399-0004.2009.01331.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002452

2

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

Jamsheer A, Sowińska A, Kaczmarek L, Latos-Bieleńska A. Jamsheer A, et al. BMC Med Genet. 2012 Jan 10;13:4. doi: 10.1186/1471-2350-13-4. BMC Med Genet. 2012. PMID: 22233338 Free PMC article.

3

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH. Budny B, et al. Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19. Clin Genet. 2010. PMID: 20412111

4

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.

5

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.

6

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

7

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.

Sowińska-Seidler A, Piwecka M, Olech E, Socha M, Latos-Bieleńska A, Jamsheer A. Sowińska-Seidler A, et al. J Appl Genet. 2015 May;56(2):177-84. doi: 10.1007/s13353-014-0252-7. Epub 2014 Oct 23. J Appl Genet. 2015. PMID: 25339597 Free PMC article.

8

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

9

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Winczewska-Wiktor A, Badura-Stronka M, Monies-Nowicka A, Nowicki MM, Steinborn B, Latos-Bieleńska A, Monies D. Winczewska-Wiktor A, et al. BMC Neurol. 2016 Mar 12;16:35. doi: 10.1186/s12883-016-0554-y. BMC Neurol. 2016. PMID: 26968164 Free PMC article.

10

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. Budny B, et al. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783569

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