Sorokina EA - Search Results

1

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.

Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E. Verdin H, et al. Among authors: sorokina ea. Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26. Orphanet J Rare Dis. 2014. PMID: 24555714 Free PMC article.

2

Functional analysis of human mutations in homeodomain transcription factor PITX3.

Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Sakazume S, et al. BMC Mol Biol. 2007 Sep 21;8:84. doi: 10.1186/1471-2199-8-84. BMC Mol Biol. 2007. PMID: 17888164 Free PMC article.

3

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.

Sorokina EA, Muheisen S, Mlodik N, Semina EV. Sorokina EA, et al. PLoS One. 2011;6(6):e21122. doi: 10.1371/journal.pone.0021122. Epub 2011 Jun 17. PLoS One. 2011. PMID: 21698120 Free PMC article.

4

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

Schilter KF, Reis LM, Sorokina EA, Semina EV. Schilter KF, et al. Among authors: sorokina ea. Mol Genet Genomic Med. 2015 Jun 2;3(6):490-9. doi: 10.1002/mgg3.159. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740941 Free PMC article.

5

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Hendee KE, Sorokina EA, Muheisen SS, Reis LM, Tyler RC, Markovic V, Cuturilo G, Link BA, Semina EV. Hendee KE, et al. Among authors: sorokina ea. Hum Mol Genet. 2018 May 15;27(10):1675-1695. doi: 10.1093/hmg/ddy074. Hum Mol Genet. 2018. PMID: 29506241 Free PMC article.

6

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV. Reis LM, et al. Among authors: sorokina ea. Am J Hum Genet. 2019 Aug 1;105(2):425-433. doi: 10.1016/j.ajhg.2019.06.015. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327510 Free PMC article.

7

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

Ferre-Fernández JJ, Sorokina EA, Thompson S, Collery RF, Nordquist E, Lincoln J, Semina EV. Ferre-Fernández JJ, et al. Among authors: sorokina ea. Hum Mol Genet. 2020 Sep 29;29(16):2723-2735. doi: 10.1093/hmg/ddaa163. Hum Mol Genet. 2020. PMID: 32720677 Free PMC article.

8

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways.

Seese SE, Deml B, Muheisen S, Sorokina E, Semina EV. Seese SE, et al. Dev Dyn. 2021 Aug;250(8):1056-1073. doi: 10.1002/dvdy.312. Epub 2021 Mar 12. Dev Dyn. 2021. PMID: 33570754 Free PMC article.

9

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Reis LM, et al. Among authors: sorokina ea. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. doi: 10.1093/hmg/ddab142. Hum Mol Genet. 2021. PMID: 34046667 Free PMC article.

10

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.

Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV. Sorokina EA, et al. Hum Genet. 2021 Dec;140(12):1775-1789. doi: 10.1007/s00439-021-02384-y. Epub 2021 Oct 12. Hum Genet. 2021. PMID: 34642815 Free PMC article.

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