Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

161 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
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: latos bielenska 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
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: latos bielenska a. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW. Walczak-Sztulpa J, et al. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493458 Free PMC article.
161 results