Krystyna H Chrzanowska

Krystyna H Chrzanowska

UNVERIFIED PROFILE

Are you Krystyna H Chrzanowska?   Register this Author

Register author
Krystyna H Chrzanowska

Krystyna H Chrzanowska

Publications by authors named "Krystyna H Chrzanowska"

Are you Krystyna H Chrzanowska?   Register this Author

48Publications

1399Reads

36Profile Views

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.

Stem Cell Res 2019 01 27;34:101372. Epub 2018 Dec 27.

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2018.101372DOI Listing
January 2019

Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

J Clin Immunol 2018 May;38(4):538

Department of Immunology, Laboratory for Medical Immunology, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, 3015, CN, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0503-1DOI Listing
May 2018

Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.

Pediatr Endocrinol Diabetes Metab 2015 ;20(3):101-6

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18544/PEDM-20.03.0009DOI Listing
September 2017

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

J Appl Genet 2017 May 10;58(2):199-203. Epub 2016 Oct 10.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A. Pawi ńskiego 5, 02-106, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13353-016-0368-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391399PMC
May 2017

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

J Clin Immunol 2017 Feb 21;37(2):133-142. Epub 2016 Dec 21.

Department of Immunology, Laboratory for Medical Immunology, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-016-0363-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325864PMC
February 2017

Zespół Silvera-Rusella. Część II.

Pediatr Endocrinol Diabetes Metab 2016 Jun;21(3):132-42

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18544/PEDM-21.03.0035DOI Listing
June 2016

Polish activity within Orphanet Europe--state of art of database and services.

Dev Period Med 2015 Oct-Dec;19(4):536-41

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warszawa, tel. (22) 815-74-52, e-mail:

View Article

Download full-text PDF

Source
May 2016

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype.

Am J Med Genet A 2012 Apr 17;158A(4):922-6. Epub 2012 Feb 17.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34440DOI Listing
April 2012

Nijmegen breakage syndrome (NBS).

Orphanet J Rare Dis 2012 Feb 28;7:13. Epub 2012 Feb 28.

Department of Medical Genetics, The Children's Memorial Health Institute, Al, Dzieci Polskich 20, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-7-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314554PMC
February 2012

[Ocular findings in Nijmegen breakage syndrome].

Klin Oczna 2011 ;113(4-6):153-5

Z Kliniki Okulistyki Instytutu Pomnik-Centrum Zdrowia Dziecka w Warszawie.

View Article

Download full-text PDF

Source
October 2011

The frequency of NBN molecular variants in pediatric astrocytic tumors.

J Neurooncol 2010 Jan 22;96(2):161-8. Epub 2009 Jul 22.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11060-009-9958-5DOI Listing
January 2010

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.

Gene 2009 Nov 25;447(1):12-7. Epub 2009 Jul 25.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2009.07.013DOI Listing
November 2009

Oral findings in patients with Nijmegen breakage syndrome: a preliminary study.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2009 Nov 26;108(5):e39-45. Epub 2009 Sep 26.

Department of Microbiology and Clinical Immunology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tripleo.2009.06.032DOI Listing
November 2009

Ganglioglioma associated with alterations of NBN gene. A case report.

Folia Neuropathol 2009 ;47(3):278-83

Department of Pathology, The Children's Memorial Heath Institute, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
November 2009

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair.

J Appl Genet 2008 ;49(4):383-96

Children's Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/BF03195638DOI Listing
March 2009

Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS).

Pediatr Blood Cancer 2009 Feb;52(2):186-90

Department of Pediatric Oncology, The Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.21789DOI Listing
February 2009

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

Eur J Cell Biol 2008 Feb 30;87(2):111-21. Epub 2007 Oct 30.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Germany.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S017193350700136
Publisher Site
http://dx.doi.org/10.1016/j.ejcb.2007.09.002DOI Listing
February 2008

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Carcinogenesis 2007 Jan 13;28(1):107-11. Epub 2006 Jul 13.

Institut für Humangenetik, Charité-Universitätsmedizin Berlin Campus-Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
https://academic.oup.com/carcin/article-lookup/doi/10.1093/c
Publisher Site
http://dx.doi.org/10.1093/carcin/bgl126DOI Listing
January 2007

Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.

Acta Neurobiol Exp (Wars) 2004 ;64(4):503-9

Department of Diagnostic Imaging, Central Railway Hospital, Bursztynowa 2, 04-749 Warsaw, Poland.

View Article

Download full-text PDF

Source
March 2005

Delineation of the role of the Mre11 complex in class switch recombination.

J Biol Chem 2004 Apr 26;279(16):16479-87. Epub 2004 Jan 26.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Huddinge Hospital, SE-14186 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M312796200DOI Listing
April 2004

Telomere maintenance and cell cycle regulation in spontaneously immortalized T-cell lines from Nijmegen breakage syndrome patients.

Exp Cell Res 2003 Jul;287(1):178-89

Department of Immunology, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0014-4827(03)00140-xDOI Listing
July 2003

Alternative end joining during switch recombination in patients with ataxia-telangiectasia.

Eur J Immunol 2002 05;32(5):1300-8

Division of Clinical Immunology, IMPI, Karolinska Institutet at Huddinge Hospital, and Center for Biotechnology and Center for Oral Biology, NOVUM, Huddinge, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/1521-4141(200205)32:5<1300::AID-IMMU1300>3.0.CO;2-LDOI Listing
May 2002