Socha M - Search Results

1

A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

Sowińska-Seidler A, Socha M, Szoszkiewicz A, Materna-Kiryluk A, Jamsheer A. Sowińska-Seidler A, et al. Among authors: socha m. Front Mol Biosci. 2023 Oct 17;10:1250714. doi: 10.3389/fmolb.2023.1250714. eCollection 2023. Front Mol Biosci. 2023. PMID: 37916192 Free PMC 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. 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.

3

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.

4

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

5

Position effects at the FGF8 locus are associated with femoral hypoplasia.

Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, Jamsheer A. Socha M, et al. Am J Hum Genet. 2021 Sep 2;108(9):1725-1734. doi: 10.1016/j.ajhg.2021.08.001. Epub 2021 Aug 24. Am J Hum Genet. 2021. PMID: 34433009 Free PMC article.

6

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.

Wawrocka A, Walczak-Sztulpa J, Socha M, Kuszel L, Sowinska-Seidler A, Budny B, Bukowska-Olech E, Pilas-Pomykalska M, Jamsheer A, Krawczynski MR. Wawrocka A, et al. Among authors: socha m. Am J Med Genet A. 2022 Feb;188(2):642-647. doi: 10.1002/ajmg.a.62559. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773354

7

A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.

Socha M, Szoszkiewicz A, Simon D, Jamsheer A. Socha M, et al. J Appl Genet. 2023 Feb;64(1):125-134. doi: 10.1007/s13353-022-00743-7. Epub 2022 Dec 31. J Appl Genet. 2023. PMID: 36586055 Free PMC article. Review.

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. 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

9

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.

10

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.

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