Latos-Bieleńska A - Search Results

1

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.

Jamsheer A, Badura-Stronka M, Sowińska A, Debicki S, Kiryluk K, Latos-Bieleńska A. Jamsheer A, et al. Clin Genet. 2010 Jul;78(1):94-7. doi: 10.1111/j.1399-0004.2010.01412.x. Clin Genet. 2010. PMID: 20597923 No abstract available.

2

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687. J Appl Genet. 2009. PMID: 19638688

3

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

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

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.

6

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.

7

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

8

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A. Jamsheer A, et al. Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6. Gene. 2014. PMID: 24508941

9

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

10

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

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