Publications by authors named "Anna Kutkowska-Kazmierczak"

27Publications

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

J Appl Genet 2018 05;59(2):149-150

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

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http://dx.doi.org/10.1007/s13353-018-0438-5DOI Listing
May 2018

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

J Appl Genet 2018 May 1;59(2):133-147. Epub 2018 Feb 1.

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

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http://dx.doi.org/10.1007/s13353-017-0423-4DOI Listing
May 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

[The genetics of obesity - pathogenetic, clinical and diagnostic aspects].

Dev Period Med 2017;21(3):186-202

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.

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July 2019

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.

Dev Period Med 2017;21(2):91-94

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

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July 2019

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Adv Exp Med Biol 2016 ;912:1-9

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Warsaw, Poland.

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http://dx.doi.org/10.1007/5584_2016_235DOI Listing
December 2016

The COL7A1 mutation database.

Hum Mutat 2012 Feb 20;33(2):327-31. Epub 2011 Dec 20.

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

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http://dx.doi.org/10.1002/humu.21651DOI Listing
February 2012

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].

Med Wieku Rozwoj 2008 Jul-Sep;12(3):748-53

Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.

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April 2009

[Genetically determined human susceptibility to selected infectious diseases].

Med Wieku Rozwoj 2008 Jul-Sep;12(3):738-47

Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.

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April 2009

A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.

Am J Med Genet A 2007 Aug;143A(16):1885-9

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

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http://dx.doi.org/10.1002/ajmg.a.31845DOI Listing
August 2007

[Prenatal diagnosis of Crouzon syndrome--actual diagnostic possibilities].

Ginekol Pol 2006 Feb;77(2):138-45

Klinika Poloznictwa i Ginekologii Instytutu Matki i Dziecka w Warszawie.

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February 2006

[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects].

Med Wieku Rozwoj 2004 Oct-Dec;8(4 Pt 1):949-62

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa.

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December 2005

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

Med Sci Monit 2004 Apr;10(4):CR143-51

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

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April 2004

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling].

Med Wieku Rozwoj 2003 Jul-Sep;7(3):389-401

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland.

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July 2004

[Clinical expression of triploidy].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):329-36

Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.

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August 2003