Zaremba J - Search Results

1

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.

Zimowski JG, Pawelec M, Purzycka JK, Szirkowiec W, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. J Hum Genet. 2017 Oct;62(10):885-888. doi: 10.1038/jhg.2017.70. Epub 2017 Jul 6. J Hum Genet. 2017. PMID: 28680110

2

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Zimowski JG, Massalska D, Holding M, Jadczak S, Fidziańska E, Lusakowska A, Kostera-Pruszczyk A, Kamińska A, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. Neurol Neurochir Pol. 2014;48(6):416-22. doi: 10.1016/j.pjnns.2014.10.004. Epub 2014 Oct 24. Neurol Neurochir Pol. 2014. PMID: 25482253

3

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

Zimowski JG, Pilch J, Pawelec M, Purzycka JK, Kubalska J, Ziora-Jakutowicz K, Dudzińska M, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. J Appl Genet. 2017 Aug;58(3):343-347. doi: 10.1007/s13353-017-0391-8. Epub 2017 Feb 28. J Appl Genet. 2017. PMID: 28247318 Free PMC article.

4

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.

Zimowski JG, Purzycka J, Pawelec M, Ozdarska K, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. J Appl Genet. 2021 May;62(2):289-295. doi: 10.1007/s13353-020-00605-0. Epub 2021 Jan 9. J Appl Genet. 2021. PMID: 33420945

5

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy.

Zimowski JG, Bisko MU, Fidziańska EJ, Fidziańska AZ, Badurska B, Niebrój-Dobosz I, Koztowska M, Hausmanowa-Petrusewicz I, Zaremba JS. Zimowski JG, et al. Among authors: zaremba js. Eur J Neurol. 1997 Mar;4(2):138-42. doi: 10.1111/j.1468-1331.1997.tb00319.x. Eur J Neurol. 1997. PMID: 24283906

6

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J. Sułek A, et al. Among authors: zaremba j. J Appl Genet. 2004;45(1):101-5. J Appl Genet. 2004. PMID: 14960773

7

CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.

Sułek A, Hoffman-Zacharska D, Krysa W, Szirkowiec W, Fidziańska E, Zaremba J. Sułek A, et al. Among authors: zaremba j. J Appl Genet. 2005;46(2):237-9. J Appl Genet. 2005. PMID: 15876692

8

[Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available].

Zimowski JG, Fidzianska E, Holding M, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):363-71. Med Wieku Rozwoj. 2006. PMID: 17028400 Polish.

9

[Detection of rare mutations in the dystrophin gene].

Zimowski JG, Holding M, Fidziańska E, Fidziańska A, Ryniewicz B, Dobosz I, Hausmanowa-Petrusewicz I, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Andrzejczyk A, Zaremba J. Zimowski JG, et al. Among authors: zaremba j. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):140-5. Med Wieku Rozwoj. 2009. PMID: 19837995 Polish.

10

Two mutations in one dystrophin gene.

Zimowski J, Fidziańska E, Holding M, Zaremba J. Zimowski J, et al. Among authors: zaremba j. Neurol Neurochir Pol. 2013 Mar-Apr;47(2):131-7. doi: 10.5114/ninp.2013.34586. Neurol Neurochir Pol. 2013. PMID: 23650001

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