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List of works by Jerzy Bal

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

scientific article published in 2012

A cystic fibrosis patient homozygous for the nonsense mutation R553X ⬇️

scientific article published on October 1, 1991

A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.

scientific article published on 13 November 2014

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

scientific article

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

scientific article published on 20 May 2019

A novel p.Ser282Pro variant is associated with autosomal dominant hereditary pancreatitis

scientific article published on 03 March 2017

Allele specific and locus non-specific suppressors in Aspergillus nidulans

scientific article published on December 1979

Amelioration of junctional epidermolysis bullosa due to exon skipping.

scientific article

An Aspergillus nidulans mutant lacking serine transacetylase: evidence for two pathways of cysteine biosynthesis

article

An easy way of obtaining Aspergillus nidulans haploids in the parasexual cycle using N-glycosyl polifungin

scientific article published on 01 June 1975

Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis

scientific article published on 01 September 2006

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome

scientific article published in January 1996

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

scientific article published in March 2005

Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients

scientific article

CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCE.

scientific article published in July 2015

Carotid body resection in patients with severe chronic airflow limitation

scientific article published on 01 August 1987

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

scientific article

Chondrosarcoma in a patient with relapsing polychondritis

scientific article published on 01 August 1995

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

scientific article published on 29 September 2017

Circulatory changes during a hypotensive technique of anesthesia.

scientific article published in January 1980

Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia

scientific article published on 01 June 2007

Cloning of Aspergillus nidulans DNA. I. Selection and analysis of recombinant plasmids capable of complementing pyrF, argIF and proAB mutations in Escherichia coli

scientific article published on 01 January 1980

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

scientific article published on 01 February 2014

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

scientific article

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

Construction of plasmid vectors for gene cloning in Escherichia coli and Bacillus subtilis

scientific article published on 01 January 1982

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

scientific article (publication date: September 2014)

Cysteine biosynthesis in Aspergillus nidulans

scientific article published on 01 January 1975

Cystic fibrosis emerging therapies

scientific article published on January 2014

Detection of 5-amino-4-imidazole-N-succinocarboxamide ribotide and hypoxanthine accumulation. A simple method for identification of some purine auxotrophs ⬇️

scientific article published on February 1, 1979

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

scientific article published in June 1999

Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations

scientific article published on 01 October 1989

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

scientific article published on August 1991

Effect of anti-common leucocyte (CD45R, CD45) monoclonal antibodies on human lymphocyte activation: their potential for modifying kidney dendritic cells.

scientific article published in February 1989

Endoscopic repair of cerebrospinal fluid rhinorrhoea

scientific article

Expanding the phenotype associated with missense mutations of the ARX gene

scientific article published on 08 May 2013

FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.

scientific article published on 18 December 2017

Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.

scientific article

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

scientific article

Frequency of the cystic fibrosis mutation delta F508 in Poland

scientific article published on 01 January 1991

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

scientific article

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

scientific article published on 20 June 2015

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis

scientific article

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

scientific article published on January 2015

Genetic and biochemical background of chronic granulomatous disease.

scientific article published on March 2004

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

scientific article published on 2 November 2006

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

scientific article published on 18 November 2017

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

scientific article published in January 2001

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

scientific article published on 28 May 2016

Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia

scientific article published on 01 December 1998

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

scientific article

Inter-generational transmission of mutations responsible for fragile X syndrome

scientific article published in March 1996

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

scientific article published on 29 July 2014

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

scientific article published on 22 July 2009

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

scientific article published on 25 May 2018

Method for isolating auxotrophic mutants in Aspergillus nidulans using N-glycosyl-polifungin

scientific article published on 01 September 1974

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

scientific article published on 01 February 2006

Molecular and clinical studies of Polish patients with Prader-Willi syndrome

scientific article published on 01 January 1996

Molecular basis of cystic fibrosis

scientific article published in January 1991

Molecular basis of mild hyperphenylalaninaemia in Poland.

scientific article published in December 1997

Molecular characterization of Polish patients with classical galactosaemia

scientific article published on 01 June 1999

Molecular pathogenesis of fragile X syndrome

scientific article

Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.

scientific article published in March 2002

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia

scientific article published on 01 January 1999

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

scientific article published on 14 December 2012

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3

scientific article published on 01 January 1997

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

scientific article

Non-menstrual toxic shock syndrome. A case report and a review of non-menstrual toxic shock syndrome in Western Europe

scientific article published on August 1986

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

scientific article

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

scientific article published on 9 December 2014

Novel and recurrent COL7A1 mutation in a Polish population

scientific article published on 01 January 2012

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease

scientific article published on 25 January 2020

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

scientific article published on 01 December 2008

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

scientific article published on 2 October 2015

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

scientific article published on 09 April 2016

Passive transfer of maternal antibodies and their existence in eggs, larvae and fry of Indian major carp, Labeo rohita (Ham.).

scientific article published on 12 September 2005

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics

scientific article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

scientific article published on January 2010

Response of Aspergillus nidulans and Physarum polycephalum to microwave irradiation

scientific article published on 01 June 1980

Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site

scientific article published on 01 February 1992

Study of DNA restriction fragment length polymorphism in the diagnosis of mucoviscidosis

scientific article published on February 1989

Subcellular mislocation of cysteine synthase in a cysteine auxotroph of Aspergillus nidulans

scientific article published in 1975

Subcellular mislocation of cysteine synthase in a cysteine auxotroph ofAspergillus nidulans

scholarly article by J. Bal published in October 1975

Supersuppressors in Aspergillus nidulans ⬇️

scientific article published on February 16, 1978

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

scientific article

The COL7A1 mutation database.

scientific article published on 20 December 2011

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

scientific article published on 24 September 2016

The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases.

scientific article

The efficacy of fluticasone furoate administered in the morning or evening is comparable in patients with persistent asthma

scientific article published on 12 January 2016

The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients

scientific article published on 01 January 1992

The genetic basis of classical galactosaemia in Polish patients

scientific article published on 24 May 2021

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

scientific article published on 09 August 2018

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

scientific article published in November 2004

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

Tooth sensitivity prevention and treatment.

scientific article

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

scientific article published on 02 September 2016

Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families

scientific article published on 01 March 1992

Use of the method of DNA analysis in the diagnosis of hereditary diseases

scientific article published in March 1987

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

scientific article

[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients]

scientific article published on 01 August 1995

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

scientific article published on 01 April 2009

[Analysis of hearing impairment causes in molecular diagnosis of deafness]

scientific article published on 01 April 2001

[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland]

scientific article published on 01 April 2000

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

scientific article published on 01 April 2009

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

scientific article published on 01 January 2006

[Biomedical science in the era of complete sequence of human genome]

scientific article published on 01 July 2001

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

scientific article published on 01 October 2004

[Cystic fibrosis--the principle of somatic gene therapy]

scientific article published on 01 January 1994

[Dynamic mutations. The function of unstable DNA sequences in human genetic diseases]

scientific article published on 01 January 1993

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

scientific article published in January 2018

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

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland]

scientific article published on 01 January 1999

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

scientific article published on 01 April 2009

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

scientific article published on 01 January 2006

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

scientific article published on 01 January 2005

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

scientific article published on 01 October 2010

[Genetic studies on primary open angle glaucoma]

scientific article published in January 2000

[Genetically determined human susceptibility to selected infectious diseases]

scientific article published on 01 July 2008

[Hereditary aspects of pancreatitis]

scientific article published on 01 January 2003

[I. Single nucleotide polymorphism in human genetic analyses]

scientific article published on 01 October 2003

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

scientific article published on 01 October 2004

[Identification of mutation and polymorphic changes in the CFTR gene of patients with obstructive azoospermia]

scientific article published on 01 January 2000

[Martin-Bell syndrome. Improved possibilities for molecular genetic diagnosis]

scientific article published on 01 March 1992

[Molecular studies of genetic diseases]

scientific article published on 01 January 1999

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

scientific article published on 01 October 2002

[Mutations causing hereditary hyperphenylalaninemia]

scientific article published on 01 January 1999

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

scientific article published on 01 January 2014

[On the way to gene therapy in cystic fibrosis]

scientific article published on 01 January 2006

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

scientific article published on 01 October 2004

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

scientific article published on 01 July 2004

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

scientific article published on 01 August 2007

[The attempt to identify mutations in TIGR gene in Polish patients with primary open angle glaucoma]

scientific article published in January 2000

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

scientific article published on 01 October 2002

[The type and frequency of mutations in CFTR gene occurrence in patients with cystic fibrosis in Poland--implication of results obtained from genetic counseling and diagnostic screening]

scientific article published on 01 August 1995

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