Publications by authors named "Aleksandra Jezela-Stanek"

47Publications

Interstitial Lung Disease in Rare Congenital Syndromes.

J Mother Child 2020 Jul 29;24(1):47-52. Epub 2020 Jul 29.

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

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http://dx.doi.org/10.34763/jmotherandchild.2020241.1931.000004DOI Listing
July 2020

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the Gene.

Diagnostics (Basel) 2020 Oct 14;10(10). Epub 2020 Oct 14.

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10100821DOI Listing
October 2020

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.

Diagnostics (Basel) 2020 Sep 23;10(10). Epub 2020 Sep 23.

Department of Pediatrics, Nutrition and Metabolic Disorders, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10100738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598207PMC
September 2020

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.

Int J Mol Sci 2020 Jun 26;21(12). Epub 2020 Jun 26.

Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK.

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http://dx.doi.org/10.3390/ijms21124564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348969PMC
June 2020

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.

Clin Neurol Neurosurg 2020 Sep 18;196:106033. Epub 2020 Jun 18.

Clinic of Paediatric Neurology, Institute of Mother and Child, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.clineuro.2020.106033DOI Listing
September 2020

Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.

J Clin Med 2020 Jun 8;9(6). Epub 2020 Jun 8.

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland.

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http://dx.doi.org/10.3390/jcm9061789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7356683PMC
June 2020

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.

Ginekol Pol 2020 ;91(5):287-293

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland, Poland.

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http://dx.doi.org/10.5603/GP.2020.0049DOI Listing
January 2020

Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635.

Prenat Diagn 2020 Feb 20. Epub 2020 Feb 20.

First Department of Obstetrics and Gynecology, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1002/pd.5665DOI Listing
February 2020

Is leucodystrophy really a feature of PIGT-CDG?

Neuropathol Appl Neurobiol 2020 Oct 19;46(6):615-616. Epub 2020 Mar 19.

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.

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http://dx.doi.org/10.1111/nan.12609DOI Listing
October 2020

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.

Clin Respir J 2020 May 22;14(5):422-429. Epub 2020 Jan 22.

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

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http://dx.doi.org/10.1111/crj.13150DOI Listing
May 2020

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.

Clin Genet 2019 09 10;96(3):274-275. Epub 2019 Jul 10.

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

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http://dx.doi.org/10.1111/cge.13592DOI Listing
September 2019

Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation.

Adv Clin Exp Med 2019 Sep;28(9):1257-1261

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warszawa, Poland.

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http://dx.doi.org/10.17219/acem/103668DOI Listing
September 2019

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

J Appl Genet 2019 May 30;60(2):163-174. Epub 2019 Mar 30.

Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00491-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483970PMC
May 2019

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Muscle Nerve 2019 01 26;59(1):129-133. Epub 2018 Oct 26.

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a St, 01-211, Warsaw, Poland.

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http://dx.doi.org/10.1002/mus.26346DOI Listing
January 2019

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

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

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

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

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

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

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

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

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

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

Angelman syndrome revisited.

Neurologist 2007 Sep;13(5):305-12

Child Neurology Department, Medical University of Silesia, Katowice, Poland.

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http://dx.doi.org/10.1097/01.nrl.0000253067.32759.aaDOI Listing
September 2007

[The Smith-Lemli-Opitz syndrome--case report, early diagnosis].

Ginekol Pol 2007 Mar;78(3):242-4

Klinika Neonatologii Katedry Połoznictwa i Ginekologii S.A.M. w Katowicach.

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March 2007

Hereditary neuropathy with liability to pressure palsy.

Folia Neuropathol 2006 ;44(4):290-4

Department of Paediatrics and Child Neurology, Medical University of Silesia, Upper Silesian Child and Mother Health Institute, ul. Medyków 16, 40-752 Katowice, Poland.

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March 2007