Publications by authors named "Agnieszka Stembalska"

43Publications

In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer.

Eur J Obstet Gynecol Reprod Biol 2019 Jul 22;238:54-57. Epub 2019 Apr 22.

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland; Laboratory of Genomics & Bioinformatics, Institute of Immunology and Experimental Therapy Polish Academy of Sciences, Wroclaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2019.04.035DOI Listing
July 2019

Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20.

Fetal Pediatr Pathol 2019 Jun 20;38(3):245-256. Epub 2019 Mar 20.

a Department of Genetics, Wroclaw Medical University , Wroclaw , Poland.

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http://dx.doi.org/10.1080/15513815.2019.1576818DOI Listing
June 2019

Short stature in genetic syndromes: Selected issues.

Adv Clin Exp Med 2018 Mar;27(3):409-414

Department of Genetics, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.17219/acem/67051DOI Listing
March 2018

Fragile X syndrome in females - a familial case report and review of the literature.

Dev Period Med 2016 Apr-Jun;20(2):99-104

Department of Genetics, Wroclaw Medical University, Poland.

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September 2016

Coexistent chronic myelogenous leukemia with squamous cell carcinoma of the larynx associated with NOD2/CARD15 mutation in a young adult.

Ear Nose Throat J 2016 Jun;95(6):E1-4

Department of Otolaryngology-Head and Neck Surgery, Wroclaw Medical University, Borowska Str. 213, 50-556 Wroclaw, Poland.

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June 2016

Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency.

Birth Defects Res A Clin Mol Teratol 2015 Apr 7;103(4):255-9. Epub 2015 Apr 7.

Department of Genetics, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.1002/bdra.23344DOI Listing
April 2015

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis].

Dev Period Med 2014;18(2):169-75

Katedra i Zakład Genetyki UM, Marcinkowskiego 1, 50-368 Wrocław,

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January 2014

Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.

Adv Clin Exp Med 2014 Jul-Aug;23(4):517-21

Department of Genetics, Wroclaw Medical University, Poland.

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http://dx.doi.org/10.17219/acem/37216DOI Listing
November 2014

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Gene 2014 Apr 6;539(1):157-61. Epub 2014 Feb 6.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1016/j.gene.2014.01.066DOI Listing
April 2014

[New molecular methods in prenatal invasive diagnostics].

Ginekol Pol 2013 Oct;84(10):871-6

Katedra i Zakład Genetyki, Uniwersytet Medyczny we Wrocławiu, Polska.

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October 2013

Global DNA methylation status in laryngeal cancer.

Head Neck 2014 Mar 1;36(3):419-24. Epub 2013 Jun 1.

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1002/hed.23315DOI Listing
March 2014

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Med Wieku Rozwoj 2012 Apr-Jun;16(2):138-43

Katedra i Zakład Genetyki, Akademia Medyczna, ul. Marcinkowskiego 1, 50-368 Wrocław, Poland.

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April 2013

Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.

Gene 2012 Apr 14;498(1):96-9. Epub 2012 Feb 14.

Department and Clinic of Orthopaedic and Traumatologic Surgery-Division of Rehabilitation, Wroclaw Medical University, Borowska str. 213, 50-556 Wroclaw, Poland.

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http://linkinghub.elsevier.com/retrieve/pii/S037811191200170
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http://dx.doi.org/10.1016/j.gene.2012.01.098DOI Listing
April 2012

[Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21--theoretical and practical aspects].

Ginekol Pol 2011 Feb;82(2):126-32

Katedra i Zaklad Genetyki, Akademia Medyczna we Wroclawiu, Polska.

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February 2011

[Rett syndrome. Classical form and preserved speech variant as a different phenotype effect of deletion with the same starting point in MeCP2 gene - report of 2 cases].

Med Wieku Rozwoj 2011 Oct-Dec;15(4):445-50

Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław.

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May 2012

[Familial chromosome X structural aberrations - case report].

Pediatr Endocrinol Diabetes Metab 2010 ;16(4):310-4

Katedra Genetyki Akademii Medycznej, Wroclaw.

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September 2011

Cancer stem cells: the theory and perspectives in cancer therapy.

J Appl Genet 2008 ;49(2):193-9

Department of Genetics, Medical University of Wroclaw,Wroclaw, Poland.

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http://dx.doi.org/10.1007/BF03195612DOI Listing
August 2008

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Folia Histochem Cytobiol 2007 ;45 Suppl 1:S11-6

Department of Genetics, Wroclaw Medical University, Poland.

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October 2008

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].

Pol Merkur Lekarski 2005 Feb;18(104):205-9

Klinika Pediatrii, Gastroenterologii i Zywienia AM we Wrocławiu.

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February 2005

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

Anticancer Res 2006 Nov-Dec;26(6B):4597-601

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368, Wroclaw, Poland.

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January 2007

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.

Eur J Pediatr 2007 Jan 30;166(1):67-71. Epub 2006 Sep 30.

Department of Genetics, Wroclaw Medical University, Marcinkowskiego, 150-368 Wroclaw, Poland.

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http://dx.doi.org/10.1007/s00431-006-0214-0DOI Listing
January 2007

Three distinct regions of deletion on 13q in squamous cell carcinoma of the larynx.

Oncol Rep 2006 Aug;16(2):417-21

Department of Genetics, Wroclaw Medical University, Wroclaw 50-368, Poland.

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August 2006

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

Eur J Med Genet 2006 Jan-Feb;49(1):87-92. Epub 2005 Jul 6.

Department of Genetics, Chair of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Marcinkowskiego 1, Poland.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.023DOI Listing
April 2006

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

J Appl Genet 2005 ;46(4):407-13

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland.

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June 2006

Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer.

Oncol Rep 2003 Mar-Apr;10(2):501-3

University of Tübingen, Institute of Anthropology and Human Genetics, Division of Molecular Genetics, D-72074 Tübingen, Germany.

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July 2003