Publications by authors named "Ewa Obersztyn"

69Publications

Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?

Neurol Neurochir Pol 2020 Aug 5. Epub 2020 Aug 5.

Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

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http://dx.doi.org/10.5603/PJNNS.a2020.0060DOI Listing
August 2020

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Clin Genet 2020 Apr 11;97(4):634-638. Epub 2019 Dec 11.

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

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http://dx.doi.org/10.1111/cge.13677DOI Listing
April 2020

The mutation responsible for torsion dystonia type 1 shows the ability to stimulate intracellular aggregation of mutant huntingtin.

Dev Period Med 2018;22(1):33-38

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

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September 2019

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

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

Neurol Neurochir Pol 2016 Nov - Dec;50(6):468-473. Epub 2016 Jul 9.

Department of Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2016.06.008DOI Listing
February 2017

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

Dev Period Med 2016 Apr-Jun;20(2):105-9

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

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September 2016

Malocclusions and craniofacial anomalies in a child with velo-cardio-facial syndrome.

Dev Period Med 2015 Oct-Dec;19(4):490-5

Orthodontic Department for Children, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, tel. (+48 22) 32-77-128, e-mail:

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May 2016

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

Dev Period Med 2014 Jul-Sep;18(3):285-96

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-361, tel. (+48) 504-125-360, e-mail:

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October 2014

Expanding the phenotype associated with missense mutations of the ARX gene.

Am J Med Genet A 2013 Jul 8;161A(7):1813-6. Epub 2013 May 8.

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

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http://dx.doi.org/10.1002/ajmg.a.36003DOI Listing
July 2013

[Moebius syndrome with facial-dental impairments - rare or rather seldom diagnosed syndrome?].

Med Wieku Rozwoj 2012 Oct-Dec;16(4):273-9

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

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April 2013

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR].

Med Wieku Rozwoj 2009 Apr-Jun;13(2):114-22

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

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November 2009

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Brain Dev 2010 Aug 22;32(7):574-8. Epub 2009 Aug 22.

Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040900217
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http://dx.doi.org/10.1016/j.braindev.2009.07.008DOI Listing
August 2010

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Med Wieku Rozwoj 2009 Jan-Mar;13(1):5-10

Klinika Neonatologii i Intensywnej Terapii Noworodka Instytutu Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa.

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October 2009

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

Folia Neuropathol 2008 ;46(3):232-7

Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.

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November 2008

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

Wiad Lek 2008 ;61(1-3):74-81

Zakładu Genetyki Medycznej, Instytutu Matki i Dziecka w Warszawie.

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October 2008

[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

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].

Med Wieku Rozwoj 2007 Jan-Mar;11(1):57-64

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 11a, 01-211 Warszawa, Poland.

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December 2007

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

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):289-308

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

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March 2007

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):227-46

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

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March 2007

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):211-25

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

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March 2007

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):199-209

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

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March 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

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].

Med Wieku Rozwoj 2005 Apr-Jun;9(2):195-203

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

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October 2005

[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

[Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis].

Med Wieku Rozwoj 2004 Oct-Dec;8(4 Pt 1):871-83

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

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December 2005

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

J Appl Genet 2005 ;46(1):109-14

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warszawa, Poland.

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April 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