Szpecht-Potocka A - Search Results

1

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

Rzońca SO, Gos M, Szopa D, Sielska-Rotblum D, Landowska A, Szpecht-Potocka A, Milewski M, Czekajska J, Abramowicz A, Obersztyn E, Maciejko D, Mazurczak T, Bal J. Rzońca SO, et al. Among authors: szpecht potocka a. Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059. Genes (Basel). 2016. PMID: 27598204 Free PMC article.

2

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR].

Szpecht-Potocka A, Gos M, Struniawski R, Obersztyn E, Bal J. Szpecht-Potocka A, et al. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):114-22. Med Wieku Rozwoj. 2009. PMID: 19837991 Polish.

3

[Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation].

Szpecht-Potocka A, Gos M, Struniawski R, Bal J. Szpecht-Potocka A, et al. Med Wieku Rozwoj. 2009 Apr-Jun;13(2):123-30. Med Wieku Rozwoj. 2009. PMID: 19837992 Review. Polish.

4

Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process.

Gos M, Szpecht-Potocka A. Gos M, et al. J Appl Genet. 2002;43(3):343-50. J Appl Genet. 2002. PMID: 12177524 Review.

5

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

Klapecki J, Obersztyn E, Laniewski-Wollk M, Szpecht-Potocka A, Mazurczak T. Klapecki J, et al. Among authors: szpecht potocka a. Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):289-308. Med Wieku Rozwoj. 2006. PMID: 17028394 Review. Polish.

6

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Bartnik M, et al. Among authors: szpecht potocka a. Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5. Genet Med. 2011. PMID: 21293276 Free article.

7

Molecular and clinical studies of Polish patients with Prader-Willi syndrome.

Szpecht-Potocka A, Obersztyn E, Karwacki M, Bocian E, Bal J, Mazurczak T. Szpecht-Potocka A, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):273-6. doi: 10.1017/s0001566000001446. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872045

8

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T; NBS CF working group. Sobczyńska-Tomaszewska A, et al. Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892530 Free PMC article.

9

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects.

Gos M, Sliwerska E, Szpecht-Potocka A. Gos M, et al. Among authors: szpecht potocka a. J Appl Genet. 2004;45(3):363-8. J Appl Genet. 2004. PMID: 15306729

10

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.

Łaniewski-Wołłk M, Gos M, Koziarski A, Szpecht-Potocka A. Łaniewski-Wołłk M, et al. Among authors: szpecht potocka a. J Appl Genet. 2008;49(3):297-300. doi: 10.1007/BF03195626. J Appl Genet. 2008. PMID: 18670066

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