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- Magdalena Nawara, Jakub Klapecki, +6 authors Tadeusz Mazurczak
- American journal of medical genetics. Part A
- 2008
Mental retardation (MR) affects approximately 2% of the population. About 10% of all MR cases result from defects of X-linked genes. Mutations in most of more than 20 known genes causing nonspecific… (More)
- Paul A Gurbel, Kevin P. Bliden, +7 authors Udaya S. Tantry
- Journal of thrombosis and haemostasis : JTH
- 2010
UNLABELLED
To study the effect of a new direct acting reversible P2Y(12) inhibitor, elinogrel (PRT060128), and the relation to cytochrome P450 (CYP) polymorphisms in patients with high platelet… (More)
- Maria Jędrzejowska, Janina Borkowska, +8 authors Irena Hausmanowa-Petrusewicz
- European Journal of Human Genetics
- 2008
In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of… (More)
- A Charzewska, Jolanta Wierzba, +6 authors Dorota Hoffman-Zacharska
- Clinical genetics
- 2016
Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by… (More)
- Leszek J. Tarnowski, Piotr Kowalec, +4 authors Anna Kurlandzka
- PloS one
- 2012
BACKGROUND
Human SA/STAG proteins, homologues of the yeast Irr1/Scc3 cohesin, are the least studied constituents of the sister chromatid cohesion complex crucial for proper chromosome segregation.… (More)
- Elżbieta Szczepanik, Iwona Terczyńska, +5 authors Dorota Hoffman-Zacharska
- Developmental period medicine
- 2015
THE AIM
To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene.
MATERIAL… (More)
- Dorota Hoffman-Zacharska, Dariusz M. Koziorowski, +16 authors Andrzej Friedman
- Parkinsonism & related disorders
- 2013
OBJECTIVE
Mutations in the α-synuclein-encoding gene SNCA are considered as a rare cause of Parkinson's disease (PD). Our objective was to examine the frequency of the SNCA point mutations among PD… (More)
- Maria Jędrzejowska, Michal Milewski, +6 authors Irena Hausmanowa-Petrusewicz
- Neuroepidemiology
- 2010
BACKGROUND
The application of molecular methods has enhanced and enlarged the diagnostics of spinal muscular atrophy (SMA) and its carriership. It allows for reliable epidemiological studies which… (More)
- Maria Jędrzejowska, Michał I Milewski, +5 authors Irena Hausmanowa-Petrusewicz
- Acta biochimica Polonica
- 2009
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we… (More)
- Richard H K Wu, Marzena Jurek, Sumathy Sundarababu, David E. Weinstein
- Molecular and Cellular Neuroscience
- 2001
The POU family of transcription factors plays a vital role in controlling cell-fate determination and the timing of cellular events in a number of tissues, including the nervous system. One such POU… (More)