Krystyna Chrzanowska

Krystyna Chrzanowska

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Krystyna Chrzanowska

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

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:

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

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease.

Front Pediatr 2018 11;6:422. Epub 2019 Jan 11.

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.3389/fped.2018.00422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336693PMC
January 2019

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.

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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.

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

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Clin Dysmorphol 2017 Apr;26(2):83-90

aDepartment of Medical Genetics, The Children's Memorial Health Institute bDepartment of Paediatrics, Medical University of Warsaw, Warsaw cDepartment of Medical Genetics, Medical College, Jagiellonian University, Cracov, Poland.

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http://dx.doi.org/10.1097/MCD.0000000000000165DOI Listing
April 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.

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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.

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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:

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May 2016

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

J Appl Genet 2014 Aug 20;55(3):329-36. Epub 2014 Apr 20.

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

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http://dx.doi.org/10.1007/s13353-014-0212-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102774PMC
August 2014

Biliary atresia in children with aberrations involving chromosome 11q.

J Pediatr Gastroenterol Nutr 2014 Mar;58(3):e26-9

*Department of Gastroenterology Hepatology and Eating Disorders †Department of Medical Genetics ‡Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1097/MPG.0b013e31829e25b8DOI Listing
March 2014

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.

Am J Med Genet A 2012 Jun 23;158A(6):1486-8. Epub 2012 Apr 23.

Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.35320DOI Listing
June 2012

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.

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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.

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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.

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October 2011

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S241-8. Epub 2010 Jun 16.

Department of Medical Genetics, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-736 Warsaw, Poland.

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http://dx.doi.org/10.1007/s10545-010-9132-4DOI Listing
December 2010

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.

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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.

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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.

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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.

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November 2009

Severe neonatal spondylometaphyseal dysplasia in two siblings.

Am J Med Genet A 2009 Oct;149A(10):2166-72

Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33016
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http://dx.doi.org/10.1002/ajmg.a.33016DOI Listing
October 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.

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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.

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

Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells.

Leuk Res 2008 Apr 27;32(4):569-77. Epub 2007 Sep 27.

Department of Immunology, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, 02-781 Warsaw, Roentgena 5, Poland.

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http://dx.doi.org/10.1016/j.leukres.2007.08.011DOI Listing
April 2008

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.

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http://linkinghub.elsevier.com/retrieve/pii/S017193350700136
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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.

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

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

DNA Repair (Amst) 2006 Aug 12;5(8):904-13. Epub 2006 Jun 12.

Department of Clinical and Biological Sciences, University of Turin, Regione Gonzole 10, 10043 Orbassano, Italy.

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http://dx.doi.org/10.1016/j.dnarep.2006.05.002DOI Listing
August 2006

The ARX mutations: a frequent cause of X-linked mental retardation.

Am J Med Genet A 2006 Apr;140(7):727-32

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.31151DOI Listing
April 2006

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.

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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.

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

[Laboratory diagnosis of immunoglobulin deficiencies].

Postepy Hig Med Dosw 2002 ;56 Suppl:13-21

Zakład Mikrobiologii i Immunologii Klinicznej, Instytutu Pomnika-Centrum Zdrowia Dziecka w Warszawie.

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August 2003

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.

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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.

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

Syndromic dystelephalangy.

Clin Dysmorphol 2002 Apr;11(2):103-5

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

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http://dx.doi.org/10.1097/00019605-200204000-00005DOI Listing
April 2002