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» Authors » Jerzy Bal

Jerzy Bal

Explore the profile of Jerzy Bal including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 75
Citations 667
Followers 0
Related Specialties
Pediatrics
Genetics
Neurology
Top 10 Co-Authors
Katarzyna Wertheim-Tysarowska
Agnieszka Sobczynska-Tomaszewska
Tadeusz Mazurczak
Ewa Obersztyn
Dorota Hoffman-Zacharska
Monika Gos
Marta Jurek
Anna Kutkowska-Kazmierczak
Agnieszka Magdalena Rygiel
Magdalena Nawara
Published In
Med Wieku Rozwoj
Dev Period Med
Am J Med Genet A
Genes (Basel)
J Appl Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Wertheim-Tysarowska K, Osipowicz K, Wozniak K, Sawicka J, Mika A, Kutkowska-Kazmierczak A, et al.
Orphanet J Rare Dis . 2024 Nov; 19(1):413. PMID: 39501396
Background: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic...
2.
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
Braun-Walicka N, Pluta A, Wolak T, Maj E, Maryniak A, Gos M, et al.
Genes (Basel) . 2023 Dec; 14(12). PMID: 38136995
Noonan syndrome (NS) is one of the most common genetic conditions inherited mostly in an autosomal dominant manner with vast heterogeneity in clinical and genetic features. Patients with NS might...
3.
Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series
Charzewska A, Terczynska I, Lipiec A, Mazurczak T, Gorka-Skoczylas P, Szlendak R, et al.
Int J Mol Sci . 2023 Jan; 24(2). PMID: 36674629
Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse...
4.
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss
Kowalczyk K, Smyk M, Bartnik-Glaska M, Plaskota I, Wisniowiecka-Kowalnik B, Bernaciak J, et al.
J Assist Reprod Genet . 2022 Jan; 39(2):357-367. PMID: 35079943
Spontaneous abortion occurs in 8-20% of recognized pregnancies and usually takes place in the first trimester (7-11 weeks). There are many causes of pregnancy loss, but the most important (about...
5.
De Novo Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome
Dawidziuk M, Kutkowska-Kazmierczak A, Bukowska-Olech E, Jurek M, Kalka E, Guilbride D, et al.
Int J Mol Sci . 2022 Jan; 23(2). PMID: 35054877
Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser-Winter Syndrome...
6.
: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
Rzonca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosinska J, Stawinski P, et al.
Genes (Basel) . 2021 Dec; 12(12). PMID: 34946860
Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are...
7.
Ectodermal dysplasias – molecular mechanisms responsible for occurrence of most frequent syndroms
Grabarczyk A, Wertheim-Tysarowska K, Bal J
Postepy Biochem . 2021 Dec; 67(3):248-258. PMID: 34894390
Ectodermal dysplasias are a wide group of genetic disorders characterised by clinical symptoms in ectodermal derivatives (most frequently teeth, hair, nails and sweat glands). There is a number of genes,...
8.
The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children
Wertheim-Tysarowska K, Szczygielski O, Seliga K, Tysarowski A, Bal J, Michalak E, et al.
J Mother Child . 2021 Oct; 25(1):19-24. PMID: 34643354
Background: Large and giant congenital melanocytic nevi (CMN), benign naevomelanocytic proliferations derived from neural crests, with a projected adult size (PAS) ≥ 20 cm, are connected to a high risk...
9.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
Kutkowska-Kazmierczak A, Boczar M, Kalka E, Castaneda J, Klapecki J, Pietrzyk A, et al.
Genes (Basel) . 2021 Aug; 12(8). PMID: 34440431
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are...
10.
The genetic basis of classical galactosaemia in Polish patients
Jezela-Stanek A, Bauer A, Wertheim-Tysarowska K, Bal J, Rygiel A, Sykut-Cegielska J
Orphanet J Rare Dis . 2021 May; 16(1):239. PMID: 34030713
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is...