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Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.
Hogendorf A, Zieliński M, Constantinou M, Śmigiel R, Wierzba J, Wyka K, Wędrychowicz A, Jakubiuk-Tomaszuk A, Budzynska E, Piotrowicz M, Lipska-Ziętkiewicz BS, Kaczorowska E, Cieślikowska A, Kutkowska-Kaźmierczak A, Fijak-Moskal J, Kugaudo M, Kosińska-Urbańska M, Szadkowska A, Borowiec M, Niedźwiecki M, Trzonkowski P, Młynarski W. Hogendorf A, et al. Among authors: wierzba j. Front Immunol. 2021 Nov 17;12:742834. doi: 10.3389/fimmu.2021.742834. eCollection 2021. Front Immunol. 2021. PMID: 34867966 Free PMC article.
Mild phenotype of a large partial 13q trisomy.
Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J. Krygier M, et al. Among authors: wierzba j. Clin Dysmorphol. 2014 Oct;23(4):155-7. doi: 10.1097/MCD.0000000000000052. Clin Dysmorphol. 2014. PMID: 25144153 No abstract available.
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS. Koczkowska M, et al. Among authors: wierzba j. J Appl Genet. 2017 Feb;58(1):93-98. doi: 10.1007/s13353-016-0366-1. Epub 2016 Sep 14. J Appl Genet. 2017. PMID: 27629806 Free PMC article.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. Among authors: wierzba j. J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12. J Appl Genet. 2021. PMID: 33982229 Free PMC article.
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Rzońca-Niewczas S, Wierzba J, Kaczorowska E, Poryszewska M, Kosińska J, Stawiński P, Płoski R, Bal J. Rzońca-Niewczas S, et al. Among authors: wierzba j. Genes (Basel). 2021 Nov 28;12(12):1911. doi: 10.3390/genes12121911. Genes (Basel). 2021. PMID: 34946860 Free PMC article.
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J. Stankiewicz P, et al. Among authors: wierzba j. Am J Med Genet. 2001 Jul 1;101(3):226-39. doi: 10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11424138
Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.
Gawlik-Kuklinska K, Wierzba J, Wozniak A, Iliszko M, Debiec-Rychter M, Dubaniewicz-Wybieralska M, Limon J. Gawlik-Kuklinska K, et al. Among authors: wierzba j. Eur J Med Genet. 2008 Mar-Apr;51(2):165-71. doi: 10.1016/j.ejmg.2007.12.001. Epub 2007 Dec 23. Eur J Med Genet. 2008. PMID: 18243084
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518
102 results