Sowińska-Seidler A - Search Results

1

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A. Olech EM, et al. Pol J Pathol. 2016 Mar;67(1):78-83. doi: 10.5114/pjp.2016.59480. Pol J Pathol. 2016. PMID: 27179278 Free article.

2

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Sowińska-Seidler A, Socha M, Jamsheer A. Sowińska-Seidler A, et al. J Appl Genet. 2014 Feb;55(1):105-15. doi: 10.1007/s13353-013-0178-5. Epub 2013 Oct 27. J Appl Genet. 2014. PMID: 24163146 Free PMC article. Review.

3

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

4

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A, Socha M, Sowińska-Seidler A, Telega K, Trzeciak T, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2014 May;55(2):183-8. doi: 10.1007/s13353-014-0195-z. Epub 2014 Feb 15. J Appl Genet. 2014. PMID: 24532482 Free PMC article.

5

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

6

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.

7

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M. Flöttmann R, et al. Eur J Hum Genet. 2016 Aug;24(8):1132-6. doi: 10.1038/ejhg.2015.266. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733284 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

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

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Kornacki J, Sowińska-Seidler A, Socha M, Ropacka M, Jamsheer A. Kornacki J, et al. Congenit Anom (Kyoto). 2017 Jan;57(1):37-38. doi: 10.1111/cga.12177. Congenit Anom (Kyoto). 2017. PMID: 27341656 No abstract available.

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