Malgorzata Krajewska-Walasek

Malgorzata Krajewska-Walasek

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Malgorzata Krajewska-Walasek

Malgorzata Krajewska-Walasek

Publications by authors named "Malgorzata Krajewska-Walasek"

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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
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
June 2019

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 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

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the and the genes.

Springerplus 2016 21;5(1):1638. Epub 2016 Sep 21.

Department of Medical Genetics, Poznan University of Medical Sciences, Fredry 10, 61-701 Poznan, Poland ; NZOZ Center for Medical Genetics, GENESIS ul. Grudzieniec 4, 60-601 Poznan, Poland.

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http://dx.doi.org/10.1186/s40064-016-3275-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031565PMC
September 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

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

Eur J Paediatr Neurol 2016 May 4;20(3):462-73. Epub 2016 Feb 4.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ejpn.2016.01.007DOI Listing
May 2016

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Mar 29;160(1):161-7. Epub 2016 Feb 29.

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

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http://dx.doi.org/10.5507/bp.2016.006DOI Listing
March 2016

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Ital J Pediatr 2016 Jan 26;42:10. Epub 2016 Jan 26.

Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Ulica Unii Lubelskiej 1, 71-252, Szczecin, Poland.

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http://dx.doi.org/10.1186/s13052-015-0209-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729164PMC
January 2016

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2015 Jun 10;159(2):333-7. Epub 2015 Feb 10.

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

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http://dx.doi.org/10.5507/bp.2015.003DOI Listing
June 2015

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Pediatr Int 2015 Jun 27;57(3):486-91. Epub 2015 May 27.

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

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http://dx.doi.org/10.1111/ped.12611DOI Listing
June 2015

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

Am J Med Genet A 2014 Oct 8;164A(10):2541-50. Epub 2014 Aug 8.

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

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http://dx.doi.org/10.1002/ajmg.a.36686DOI Listing
October 2014

Noninvasive prenatal testing of aneuploidies: where are we now?

Rev Bras Ginecol Obstet 2014 Sep;36(9):383-6

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

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September 2014

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

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Mitochondrion 2013 Nov 26;13(6):810-6. Epub 2013 May 26.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2013.05.007DOI Listing
November 2013

Genetic causes of syndromic craniosynostoses.

Eur J Paediatr Neurol 2013 May 11;17(3):221-4. Epub 2012 Oct 11.

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

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http://dx.doi.org/10.1016/j.ejpn.2012.09.009DOI Listing
May 2013

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

Am J Med Genet A 2013 Jan 19;161A(1):172-8. Epub 2012 Nov 19.

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

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http://dx.doi.org/10.1002/ajmg.a.35654DOI Listing
January 2013

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests.

Gene 2012 Sep 2;506(1):161-5. Epub 2012 Jul 2.

Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw ul. Pawińskiego 5A, 02-106 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.gene.2012.06.081DOI Listing
September 2012

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

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Pediatr Neurol 2011 Mar;44(3):221-4

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/10.1016/j.pediatrneurol.2010.10.007DOI Listing
March 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

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Eur J Paediatr Neurol 2009 Mar 26;13(2):146-53. Epub 2008 Jun 26.

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

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http://dx.doi.org/10.1016/j.ejpn.2008.03.009DOI Listing
March 2009

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Hum Mutat 2005 Mar;25(3):321

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

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http://dx.doi.org/10.1002/humu.9313DOI Listing
March 2005

Schimke immuno-osseous dysplasia: two cases.

Pediatr Radiol 2003 Mar 10;33(3):216-8. Epub 2002 Dec 10.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland.

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http://link.springer.com/10.1007/s00247-002-0852-y
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http://dx.doi.org/10.1007/s00247-002-0852-yDOI Listing
March 2003