Jerzy Bal

Jerzy Bal

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Jerzy Bal

Jerzy Bal

Publications by authors named "Jerzy Bal"

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A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.

Exp Dermatol 2019 Oct 20;28(10):1131-1134. Epub 2019 May 20.

Department of Dermatology, Venereology and Allergology, Medical University of Gdańsk, Gdańsk, Poland.

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http://doi.wiley.com/10.1111/exd.13788
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http://dx.doi.org/10.1111/exd.13788DOI Listing
October 2019

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

Dev Period Med 2018;22(1):14-21

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

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September 2019

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

Dev Period Med 2018;22(1):22-32

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

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September 2019

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Am J Med Genet A 2018 07 25;176(7):1670-1674. Epub 2018 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.38837DOI Listing
July 2018

Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.

J Appl Genet 2018 Feb 18;59(1):67-72. Epub 2017 Nov 18.

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

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http://dx.doi.org/10.1007/s13353-017-0416-3DOI Listing
February 2018

Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.

J Pediatr Gastroenterol Nutr 2017 12;65(6):652-657

*Department of Medical Genetics, Institute of Mother and Child†Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw‡Department of Surgery and Surgical Nursing, Jan Kochanowski University of Kielce§Department of Molecular Diagnostics, Oncology Center of the Holy Cross, Kielce, Poland.

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http://Insights.ovid.com/crossref?an=00005176-201712000-0001
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http://dx.doi.org/10.1097/MPG.0000000000001767DOI Listing
December 2017

The Etiology and Clinical Course of Chronic Pancreatitis in Children With Early Onset of the Disease.

J Pediatr Gastroenterol Nutr 2016 12;63(6):665-670

*Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute †Department of Medical Genetics, Institute of Mother and Child ‡Medgen Medical Centre, Warsaw, Poland.

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http://dx.doi.org/10.1097/MPG.0000000000001414DOI Listing
December 2016

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.

J Appl Genet 2016 Aug 23;57(3):349-55. Epub 2016 Feb 23.

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

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http://dx.doi.org/10.1007/s13353-015-0331-4DOI Listing
August 2016

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Pediatr Neurol 2016 07 9;60:83-7. Epub 2016 Apr 9.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125779PMC
July 2016

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

Dev Period Med 2015 Oct-Dec;19(4):413-31

Medical Genetics Department, Institute of Mother and Child, ul. Kasprzaka 17a, 01-211, Warsaw, Poland, tel.(+48 22) 32-77-177, fax (+48 22) 32-77-200, e-mail:

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May 2016

Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.

Eur J Cell Biol 2015 May 20;94(5):179-89. Epub 2015 Feb 20.

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

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http://dx.doi.org/10.1016/j.ejcb.2015.02.001DOI Listing
May 2015

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Neurol Neurochir Pol 2014 29;48(4):254-7. Epub 2014 Jul 29.

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

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http://dx.doi.org/10.1016/j.pjnns.2014.07.003DOI Listing
October 2014

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300

Department of Medical Genetics, Institute Mother and Child, 01-211 Warsaw, Kasprzaka 17,

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March 2014

[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].

Dev Period Med 2014;18(2):247-55

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

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January 2014

[Cystic fibrosis emerging therapies].

Dev Period Med 2014;18(2):256-65

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

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January 2014

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.

Brain Dev 2013 Oct 14;35(9):877-80. Epub 2012 Dec 14.

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

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http://dx.doi.org/10.1016/j.braindev.2012.10.018DOI Listing
October 2013

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

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

[Genetic risk markers of low bone mineral density in cystic fibrosis children].

Med Wieku Rozwoj 2010 Oct-Dec;14(4):334-43

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa.

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April 2011

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.

Parkinsonism Relat Disord 2010 Feb 22;16(2):136-8. Epub 2009 Jul 22.

Department of Neurology, Faculty of Heath Science, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.parkreldis.2009.06.010DOI Listing
February 2010

[Gene mapping in 14 families with X-linked nonspecific mental retardation].

Med Wieku Rozwoj 2009 Apr-Jun;13(2):94-113

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

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November 2009

[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

[Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation].

Med Wieku Rozwoj 2009 Apr-Jun;13(2):123-30

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

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November 2009

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Pediatr Neurol 2009 Aug;41(2):135-8

Department of Medical Genetics, Institute of Mother and Child, Faculty of Health Science, Medical University in Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.013DOI Listing
August 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

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.

Am J Med Genet A 2008 Dec;146A(24):3167-72

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

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http://dx.doi.org/10.1002/ajmg.a.32613DOI Listing
December 2008

[Search for the etiopathogenesis of polycystic ovary syndrome (PCOS)].

Ginekol Pol 2007 Aug;78(8):626-31

Pracownia Diagnostyki Molekularnej Niepłodnotci, Zakład Genetyki Medycznej w Warszawie.

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August 2007

[On the way to gene therapy in cystic fibrosis].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):247-74

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

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March 2007

[Genetic markers in the pathogenesis of osteopenia and osteoporosis in cystic fibrosis].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):275-87

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

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March 2007

[Attention deficit hyperactivity disorder (ADHD)--molecular and genetic aspects].

Med Wieku Rozwoj 2006 Jan-Mar;10(1 Pt 2):343-54

Instytut Genetyki i Biotechnologii, Uniwersytet Warszawski, Warszawa, Poland.

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March 2007

[Genetic polymorphism and outcome in acute lymphoblastic leukaemia of childhood].

Przegl Lek 2005 ;62(12):1412-6

Zakład Genetyki Medycznej, Instytutu Matki i Dziecka, Warszawa.

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November 2006

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].

Med Wieku Rozwoj 2004 Jul-Sep;8(3 Pt 2):651-61

Instytut Medycyny Doświadczalnej i Klinicznej, Polska Akademia Nauk, Pawińskiego 5, 02-106 Warszawa, Poland.

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October 2006

The ARX mutations: a frequent cause of X-linked mental retardation.

Am J Med Genet A 2006 Apr;140(7):727-32

Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, Warsaw, Poland.

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http://dx.doi.org/10.1002/ajmg.a.31151DOI Listing
April 2006

Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.

J Reprod Med 2006 Feb;51(2):120-7

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

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February 2006

[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

[Cystic fibrosis--a disease with many faces. The variable clinical picture versus the heterogeneity of molecular defect].

Med Wieku Rozwoj 2004 Oct-Dec;8(4 Pt 1):884-99

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

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December 2005

[II. Pharmacogenetics--the future of modern pharmacology and genetics].

Med Wieku Rozwoj 2004 Oct-Dec;8(4 Pt 1):967-91

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

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December 2005

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

Neurol Neurochir Pol 2005 Mar-Apr;39(2):89-94

Neuromuscular Unit, Medical Research Centre, Polish Academy of Science, Warsaw.

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September 2005

The search for a genetic defect in Polish patients with chronic granulomatous disease.

Arch Immunol Ther Exp (Warsz) 2004 Nov-Dec;52(6):441-6

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

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February 2005

Genetic and biochemical background of chronic granulomatous disease.

Arch Immunol Ther Exp (Warsz) 2004 Mar-Apr;52(2):113-20

National Research Institute of Mother and Child, Warsaw, Poland.

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August 2004

[I. Single nucleotide polymorphism in human genetic analyses].

Med Wieku Rozwoj 2003 Oct-Dec;7(4 Pt 2):531-46

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

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August 2004

[Hereditary aspects of pancreatitis].

Med Wieku Rozwoj 2003 Jan-Mar;7(1):57-66

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

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March 2004

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):281-94

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

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August 2003

[Molecular pathogenesis of fragile X syndrome].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):295-308

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

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August 2003

[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):309-18

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

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August 2003