Wawrocka A - Search Results

1

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Am J Med Genet A. 2022 Oct;188(10):3071-3077. doi: 10.1002/ajmg.a.62903. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35875935

2

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A. Jamsheer A, et al. Among authors: wawrocka a. J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687. J Appl Genet. 2009. PMID: 19638688

3

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.

4

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332779

5

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

6

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781

7

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Orphanet J Rare Dis. 2020 Feb 1;15(1):36. doi: 10.1186/s13023-020-1303-2. Orphanet J Rare Dis. 2020. PMID: 32007091 Free PMC article.

8

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Wawrocka A, Walczak-Sztulpa J, Bukowska-Olech E, Jamsheer A, Jaworski M, Jaworski P, Krawczynski MR. Wawrocka A, et al. Jpn J Ophthalmol. 2020 Mar;64(2):134-139. doi: 10.1007/s10384-020-00715-6. Epub 2020 Feb 3. Jpn J Ophthalmol. 2020. PMID: 32016663

9

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mikulska B, Arts HH, Bukowska-Olech E, Daniel M, Krawczynski MR, Latos-Bielenska A, Obersztyn E. Walczak-Sztulpa J, et al. Among authors: wawrocka a. Am J Med Genet A. 2020 Oct;182(10):2417-2425. doi: 10.1002/ajmg.a.61785. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32804427

10

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

Wawrocka A, Walczak-Sztulpa J, Pawlak M, Gotz-Wieckowska A, Krawczynski MR. Wawrocka A, et al. Am J Med Genet A. 2021 Jan;185(1):250-255. doi: 10.1002/ajmg.a.61938. Epub 2020 Oct 27. Am J Med Genet A. 2021. PMID: 33111437

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