Kubalska J - Search Results

1

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

Kubalska J, Chmara M, Limon J, Wierzbicka A, Prokurat S, Szaplyko J, Kowalik A, Mierzewska H, Defesche JC, Pronicka E. Kubalska J, et al. J Appl Genet. 2008;49(1):109-13. doi: 10.1007/BF03195256. J Appl Genet. 2008. PMID: 18263977

2

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC, Rynkiewicz A, Limon J. Chmara M, et al. Among authors: kubalska j. J Appl Genet. 2010;51(1):95-106. doi: 10.1007/BF03195716. J Appl Genet. 2010. PMID: 20145306

3

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.

Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E. Jurecka A, et al. Among authors: kubalska j. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S447-51. doi: 10.1007/s10545-008-1013-8. Epub 2008 Nov 21. J Inherit Metab Dis. 2008. PMID: 19016344

4

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

Orendáè M, Pronicka E, Kubalska J, Janosik M, Sokolová J, Linnebank M, Koch HG, Kozich V. Orendáè M, et al. Among authors: kubalska j. Hum Mutat. 2004 Jun;23(6):631. doi: 10.1002/humu.9249. Hum Mutat. 2004. PMID: 15146473

5

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Pronicka E, Piekutowska-Abramczuk D, Szymańska-Dębińska T, Bielecka L, Kowalski P, Luczak S, Karkucińska-Więckowska A, Migdał M, Kubalska J, Zimowski J, Jamroz E, Wierzba J, Sykut-Cegielska J, Pronicki M, Zaremba J, Krajewska-Walasek M. Pronicka E, et al. Among authors: kubalska j. Mitochondrion. 2013 Nov;13(6):810-6. doi: 10.1016/j.mito.2013.05.007. Epub 2013 May 26. Mitochondrion. 2013. PMID: 23719228

6

LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

Górski B, Kubalska J, Naruszewicz M, Lubiński J. Górski B, et al. Among authors: kubalska j. Hum Genet. 1998 May;102(5):562-5. doi: 10.1007/s004390050740. Hum Genet. 1998. PMID: 9654205

7

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Hellerud C, Adamowicz M, Jurkiewicz D, Taybert J, Kubalska J, Ciara E, Popowska E, Ellis JR, Lindstedt S, Pronicka E. Hellerud C, et al. Among authors: kubalska j. Mol Genet Metab. 2003 Jul;79(3):149-59. doi: 10.1016/s1096-7192(03)00094-5. Mol Genet Metab. 2003. PMID: 12855219

8

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: kubalska 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.

9

[Acid-base equilibrium in the course of treatment of rheumatic fever in children].

Korycka A, Pronicka E, Jacobson E, Kubalska J. Korycka A, et al. Among authors: kubalska j. Pediatr Pol. 1970 Apr;45(4):413-22. Pediatr Pol. 1970. PMID: 5446740 Polish. No abstract available.

10

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG. Linnebank M, et al. Among authors: kubalska j. Hum Mutat. 2004 Oct;24(4):352-3. doi: 10.1002/humu.9280. Hum Mutat. 2004. PMID: 15365998

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