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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

15 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: koppolu aa. J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527. Epub 2018 Oct 23. J Med Genet. 2019. PMID: 30352868
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J, Koppolu AA, Walczak A, Murcia Pienkowski VA, Biernacka A, Skiba P, Machnik-Broncel J, Gasperowicz P, Kosińska J, Rydzanicz M, Emich-Widera E, Płoski R. Pilch J, et al. Among authors: koppolu aa. Clin Genet. 2018 Oct;94(3-4):381-385. doi: 10.1111/cge.13410. Epub 2018 Aug 2. Clin Genet. 2018. PMID: 29938792
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R. Szczałuba K, et al. Diagnostics (Basel). 2021 Jul 15;11(7):1269. doi: 10.3390/diagnostics11071269. Diagnostics (Basel). 2021. PMID: 34359351 Free PMC article.
15 results