Socha M - Search Results

1

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Walencka Z, Jamsheer A, Surmiak P, Baumert M, Jezela-Stanek A, Witek A, Materna-Kiryluk A, Latos-Bieleńska A, Socha M, Sowińska-Seidler A. Walencka Z, et al. Among authors: socha m. Ginekol Pol. 2016;87(10):706-710. doi: 10.5603/GP.2016.0072. Ginekol Pol. 2016. PMID: 27958623 Free article.

2

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S. Jamsheer A, et al. Among authors: socha m. J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709756

3

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

Sowińska-Seidler A, Socha M, Jamsheer A. Sowińska-Seidler A, et al. Among authors: socha m. 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.

4

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. Among authors: socha m. Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6. Gene. 2014. PMID: 24508941

5

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. Among authors: socha m. 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.

6

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S. Jamsheer A, et al. Among authors: socha m. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. doi: 10.1002/bdra.23239. Epub 2014 Apr 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24706454 Clinical Trial.

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. Among authors: socha m. 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. Among authors: socha m. 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

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. Among authors: socha m. Congenit Anom (Kyoto). 2017 Jan;57(1):37-38. doi: 10.1111/cga.12177. Congenit Anom (Kyoto). 2017. PMID: 27341656 No abstract available.

10

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

Iwanicka-Pronicka K, Socha M, Jędrzejowska M, Krajewska-Walasek M, Jamsheer A. Iwanicka-Pronicka K, et al. Among authors: socha m. Springerplus. 2016 Sep 21;5(1):1638. doi: 10.1186/s40064-016-3275-1. eCollection 2016. Springerplus. 2016. PMID: 27722056 Free PMC article.

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