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

155 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: chrzanowska k. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
Maternal uniparental disomy 7--review and further delineation of the phenotype.
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Kotzot D, et al. Among authors: chrzanowska k. Eur J Pediatr. 2000 Apr;159(4):247-56. doi: 10.1007/s004310050064. Eur J Pediatr. 2000. PMID: 10789928
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. Among authors: chrzanowska k. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, Milde T, Kramm C, Nathrath M, Chrzanowska K, Tausch E, Takagi M, Taga T, Constantini S, Loeffen J, Meijerink J, Zielen S, Gohring G, Schlegelberger B, Maass E, Siebert R, Kunz J, Kulozik AE, Worst B, Jones DT, Pfister SM, Zapatka M, Lichter P, Ernst A. Ratnaparkhe M, et al. Among authors: chrzanowska k. Leukemia. 2017 Oct;31(10):2048-2056. doi: 10.1038/leu.2017.55. Epub 2017 Feb 15. Leukemia. 2017. PMID: 28196983
Biliary atresia in children with aberrations involving chromosome 11q.
Rurarz M, Czubkowski P, Chrzanowska K, Cielecka-Kuszyk J, Marczak A, Kamińska D, Pawłowska J. Rurarz M, et al. Among authors: chrzanowska k. J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e26-9. doi: 10.1097/MPG.0b013e31829e25b8. J Pediatr Gastroenterol Nutr. 2014. PMID: 23752074 No abstract available.
155 results