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1

MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS

Chmara, M., Kubalska, J., Bednarska-Makaruk, M., Wegrzyn, A., Pronicka, E., Wehr, A., Rynkiewicz, A., Limon, J.

Journal:

Atherosclerosis Supplements

Year:

2008

Language:

english

File:

PDF, 116 KB

english, 2008

2

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrentLDLRmutations

M. Chmara, B. Wasąg, M. Żuk, J. Kubalska, A. Węgrzyn, M. Bednarska-Makaruk, E. Pronicka, H. Wehr, J. C. Defesche, A. Rynkiewicz, J. Limon

Journal:

Journal of Applied Genetics

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

3

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

Pronicka, Ewa, Piekutowska-Abramczuk, Dorota, Szymańska-Dębińska, Tamara, Bielecka, Liliana, Kowalski, Paweł, Łuczak, Sylwia, Karkucińska-Więckowska, Agnieszka, Migdał, Marek, Kubalska, Jolanta, Zimow

Journal:

Year:

2013

Language:

english

File:

PDF, 387 KB

english, 2013

4

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

Marek Orendáè, Ewa Pronicka, Jolanta Kubalska, Miroslav Janosik, Jitka Sokolová, Michael Linnebank, Hans Georg Koch, Viktor Kožich

Journal:

Year:

2004

Language:

english

File:

PDF, 290 KB

english, 2004

5

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

Michael Linnebank, Miroslav Janosik, Viktor Kozich, Ewa Pronicka, Jolanta Kubalska, Jitka Sokolova, Anja Linnebank, Eva Schmidt, Christina Leyendecker, Thomas Klockgether, Jan Peter Kraus, Hans Georg

Journal:

Year:

2004

Language:

english

File:

PDF, 71 KB

english, 2004

6

Prenatal diagnosis of Sanfilippo disease type B

W. J. Kleijer, J. G. M. Huijmans, W. Blom, D. Gorska, J. Kubalska, M. Walasek, J. Zaremba

Journal:

Year:

1984

Language:

english

File:

PDF, 315 KB

english, 1984

7

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

Jolanta Kubalska, Magdalena Chmara, Janusz Limon, Aldona Wierzbicka, Sylwester Prokurat, Janina Szaplyko, Agnieszka Kowalik, Hanna Mierzewska, Joep C. Defesche, Ewa Pronicka

Journal:

Journal of Applied Genetics

Year:

2008

Language:

english

File:

PDF, 71 KB

english, 2008

8

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

B. Górski, Jolanta Kubalska, Marek Naruszewicz, J. Lubiński

Journal:

Year:

1998

Language:

english

File:

PDF, 133 KB

english, 1998

9

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

A. Jurecka, E. Popowska, A. Tylki-Szymanska, J. Kubalska, E. Ciara, Z. Krumina, J. Sykut-Cegielska, E. Pronicka

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

10

The spectrum of hypoxanthine – guanine phosphoribosyltransferase deficiency in Poland

A. Jurecka, E. Popowska, J. Kubalska, M. Jezewska, A. Tylki-Szymańska, E. Ciara, Z. Krumina, J. Sykut-Cegielska, E. Pronicka

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

11

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

Christina Hellerud, Maciej Adamowicz, Dorota Jurkiewicz, Joanna Taybert, Jolanta Kubalska, Elżbieta Ciara, Ewa Popowska, James R Ellis, Sven Lindstedt, Ewa Pronicka

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 355 KB

english, 2003

12

Pseudohypertriglycerydemia in 3-year-old boy

J Kubalska, J Szapłyko, M Adamowicz, T Kurył, A Moszczyńska, E Casselius, W Gradowska, J Taybert, J Chmielik, E Pronicka

Journal:

Atherosclerosis

Year:

2000

Language:

english

File:

PDF, 133 KB

english, 2000

13

1.P.252 Characterization of five families with familial defective apolipoprotein B-100 (FDB)

J. Kubalska, B. Górski, J. Szapy̵ko, M. Naruszewicz, J. Lubiński

Journal:

Atherosclerosis

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

14

Maternal tetrahydrobiopterin deficiency: The course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency

GiÅ¼ewska, M., Hnatyszyn, G., Sagan, L., CyryÅowski, L., Å»ekanowski, C., Modrzejewska, M., Nestorowicz, B., Kubalska, J., Walczak, M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 394 KB

english, 2009

15

Identification ofN-homocysteinylation sites in plasma proteins

Sikora, Marta, Marczak, Łukasz, Kubalska, Jolanta, Graban, AŁŁa, Jakubowski, Hieronim

Journal:

Year:

2014

Language:

english

File:

PDF, 587 KB

english, 2014

16

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

Stradomska, T. J., Kubalska, J., Janas, R., Tylki-Szymanska, A.

Journal:

European Journal of Endocrinology

Year:

2012

Language:

english

File:

PDF, 97 KB

english, 2012

17

9p-syndrome: Two New Observations

Szymarfska, J., Gutkowska, A., Kubalska, J., Krajewska-Walasek, M., Wiśniewski, L.

Journal:

Klinische Pädiatrie

Year:

1984

Language:

english

File:

PDF, 56 KB

english, 1984

18

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

Elert-Dobkowska, Ewelina, Stepniak, Iwona, Krysa, Wioletta, Rajkiewicz, Marta, Rakowicz, Maria, Sobanska, Anna, Rudzinska, Monika, Wasielewska, Anna, Pilch, Jacek, Kubalska, Jolanta, Lipczynska-Lojkow

Journal:

Journal of the Neurological Sciences

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

19

The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4

Lech, Halina, Kubalska, Jolanta, Wiśniewski, Lucjan

Journal:

Klinische Pädiatrie

Year:

1982

Language:

english

File:

PDF, 1005 KB

english, 1982

20

β-Carotene Deficiency in Cholestatic Liver Disease of Childhood Is Caused by β-Carotene Malabsorption

Socha, Piotr, Skorupa, Ewa, Pawlowska, Joanna, Wierzbicka, Aldona, Dhawan, Anil, Jankowska, Irena, Karczmarewicz, Ela, Kubalska, Jolanta, Łukaszkiewicz, Jacek, Lorenc, Roman

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2010

Language:

english

File:

PDF, 150 KB

english, 2010

21

Molecular basis of familial hypercholesterolemia in Poland – update from the Polish national centre of diagnostics and treatment of familial hypercholesterolemia

Chmara, M., Zuk, M., Mickiewicz, A., Brandt, A., Chlebus, K., Kubalska, J., Bautembach-Minkowska, J., Stroniawska-Woźniak, M., Bednarska-Makaruk, M., Kłosiewicz-Latoszek, L., Rynkiewicz, A., Mysliwiec

Journal:

Atherosclerosis

Year:

2016

Language:

english

File:

PDF, 52 KB

english, 2016

22

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

Zimowski, Janusz G., Pilch, Jacek, Pawelec, Magdalena, Purzycka, Joanna K., Kubalska, Jolanta, Ziora-Jakutowicz, Karolina, Dudzińska, Magdalena, Zaremba, Jacek

Journal:

Journal of Applied Genetics

Year:

2017

Language:

english

File:

PDF, 325 KB

english, 2017

23

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Sulek, Anna, Krysa, Wioletta, Rajkiewicz, Marta, Lusakowska, Anna, Kaminska, Anna, Nojszewska, Monika, Zdzienicka, Elzbieta, Kubalska, Jolanta, Rakowicz, Maria, Szirkowiec, Walentyna, Kwiecinski, Hube

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2018

Language:

english

File:

PDF, 478 KB

english, 2018

24

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Sulek, Anna, Lusakowska, Anna, Krysa, Wioletta, Rajkiewicz, Marta, Kaminska, Anna, Nojszewska, Monika, Kostera-Pruszczyk, Anna, Zdzienicka, Elzbieta, Kubalska, Jolanta, Rakowicz, Maria, Szirkowiec, Wa

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2018

Language:

english

File:

PDF, 525 KB

english, 2018

25

Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes

Sikora, Marta, Lewandowska, Izabela, Kupc, Małgorzata, Kubalska, Jolanta, Graban, Ałła, Marczak, Łukasz, Kaźmierski, Radosław, Jakubowski, Hieronim

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

26

Telomere Length and mtDNA Copy Number in Human Cystathionine Î²-synthase Deficiency

Utyro, Olga, PerÅa-KajÃ¡n, Joanna, Kubalska, Jolanta, Graban, AÅÅa, Jakubowski, Hieronim

Journal:

Free Radical Biology and Medicine

Year:

2020

File:

PDF, 1.19 MB

2020

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