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

35 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: posmyk r. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: posmyk r. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
Ciara E, Pelc M, Jurkiewicz D, Kugaudo M, Gieruszczak-Białek D, Skórka A, Posmyk R, Jakubiuk-Tomaszuk A, Cieślikowska A, Chrzanowska KH, Jezela-Stanek A, Krajewska-Walasek M. Ciara E, et al. Among authors: posmyk r. Eur J Med Genet. 2015 Jan;58(1):14-20. doi: 10.1016/j.ejmg.2014.11.002. Epub 2014 Nov 11. Eur J Med Genet. 2015. PMID: 25463315
Variants of Novel Immunomodulatory Fc Receptor Like 5 Gene Are Associated With Multiple Sclerosis Susceptibility in the Polish Population.
Chorazy M, Wawrusiewicz-Kurylonek N, Adamska-Patruno E, Czarnowska A, Zajkowska O, Kapica-Topczewska K, Posmyk R, Kretowski AJ, Kochanowicz J, Kułakowska A. Chorazy M, et al. Among authors: posmyk r. Front Neurol. 2021 Apr 6;12:631134. doi: 10.3389/fneur.2021.631134. eCollection 2021. Front Neurol. 2021. PMID: 33889124 Free PMC article.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: posmyk r. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: posmyk r. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
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: posmyk r. 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
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. Gawlinski P, et al. Among authors: posmyk r. Pediatr Neurol. 2016 Jul;60:83-7. doi: 10.1016/j.pediatrneurol.2016.03.011. Epub 2016 Apr 9. Pediatr Neurol. 2016. PMID: 27343026 Free PMC article.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: posmyk r. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
35 results