Bal J - Search Results

1

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

Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM. Charzewska A, et al. Among authors: bal j. Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9. Clin Genet. 2018. PMID: 30006928

2

Expanding the phenotype associated with missense mutations of the ARX gene.

Charzewska A, Nawara M, Jakubiuk-Tomaszuk A, Obersztyn E, Hoffman-Zacharska D, Elert E, Jurek M, Bartnik M, Poznański J, Bal J. Charzewska A, et al. Among authors: bal j. Am J Med Genet A. 2013 Jul;161A(7):1813-6. doi: 10.1002/ajmg.a.36003. Epub 2013 May 8. Am J Med Genet A. 2013. PMID: 23657928 No abstract available.

3

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

Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, Bal J, Hoffman-Zacharska D. Charzewska A, et al. Among authors: bal j. Clin Genet. 2015 Sep;88(3):297-9. doi: 10.1111/cge.12528. Epub 2014 Nov 13. Clin Genet. 2015. PMID: 25394356 No abstract available.

4

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

Charzewska A, Wierzba J, Iżycka-Świeszewska E, Bekiesińska-Figatowska M, Jurek M, Gintowt A, Kłosowska A, Bal J, Hoffman-Zacharska D. Charzewska A, et al. Among authors: bal j. Clin Genet. 2016 Oct;90(4):293-304. doi: 10.1111/cge.12811. Epub 2016 Jun 17. Clin Genet. 2016. PMID: 27234264 Review.

5

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

Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J. Gos M, et al. Among authors: bal j. Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17. Am J Med Genet A. 2014. PMID: 24939608 No abstract available.

6

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

Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J. Hoffman-Zacharska D, et al. Among authors: bal j. Brain Dev. 2013 Oct;35(9):877-80. doi: 10.1016/j.braindev.2012.10.018. Epub 2012 Dec 14. Brain Dev. 2013. PMID: 23245814

7

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

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J. Hoffman-Zacharska D, et al. Among authors: bal j. Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300. Med Wieku Rozwoj. 2013. PMID: 24519770

8

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

Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J. Gos M, et al. Among authors: bal j. Am J Med Genet A. 2018 Jul;176(7):1670-1674. doi: 10.1002/ajmg.a.38837. Epub 2018 May 25. Am J Med Genet A. 2018. PMID: 29799162

9

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

Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel AM, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K. Sawicka J, et al. Among authors: bal j. J Appl Genet. 2020 May;61(2):187-193. doi: 10.1007/s13353-020-00538-8. Epub 2020 Jan 25. J Appl Genet. 2020. PMID: 31983024 Free PMC article.

10

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

Mazurczak T, Bocian E, Milewski M, Obersztyn E, Stańczak H, Bal J, Szamotulska K, Karwacki MW. Mazurczak T, et al. Among authors: bal j. Am J Med Genet. 1996 Jul 12;64(1):184-6. doi: 10.1002/(SICI)1096-8628(19960712)64:1<184::AID-AJMG32>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826472

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