Skorczyk-Werner A - Search Results

1

Co-occurrence of Jalili syndrome and muscular overgrowth.

Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144

2

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR. Wawrocka A, et al. Mol Vis. 2014 Dec 23;20:1732-9. eCollection 2014. Mol Vis. 2014. PMID: 25558176 Free PMC article.

3

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Skorczyk-Werner A, et al. J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. J Appl Genet. 2015. PMID: 25820994 Free PMC article. Review.

4

The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

Skorczyk-Werner A, Kocięcki J, Wawrocka A, Wicher K, Krawczyńiski MR. Skorczyk-Werner A, et al. Klin Oczna. 2015;117(1):27-30. Klin Oczna. 2015. PMID: 26349155

5

Achromatopsia mutations target sequential steps of ATF6 activation.

Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.

6

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.

7

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR. Wawrocka A, et al. Among authors: skorczyk werner a. Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018. Mol Vis. 2018. PMID: 29769798 Free PMC article.

8

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation.

Wawrocka A, Niedziela Z, Skorczyk-Werner A, Krawczynski MR. Wawrocka A, et al. Klin Oczna. 2016;118(3):231-4. Klin Oczna. 2016. PMID: 30088388

9

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.

Kolesinska Z, Acierno J Jr, Ahmed SF, Xu C, Kapczuk K, Skorczyk-Werner A, Mikos H, Rojek A, Massouras A, Krawczynski MR, Pitteloud N, Niedziela M. Kolesinska Z, et al. Among authors: skorczyk werner a. Endocr Connect. 2018 Dec;7(12):1480-1490. doi: 10.1530/EC-18-0472. Endocr Connect. 2018. PMID: 30496128 Free PMC article.

10

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR. Skorczyk-Werner A, et al. Orphanet J Rare Dis. 2018 Dec 12;13(1):221. doi: 10.1186/s13023-018-0965-5. Orphanet J Rare Dis. 2018. PMID: 30541579 Free PMC article.

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