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Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.
Kowalczyk M, Tomaszewska A, Podbioł-Palenta A, Constantinou M, Wawrzkiewicz-Witkowska A, Kowalski J, Kałużewski B, Zajączek S, Srebniak MI. Kowalczyk M, et al. Among authors: zajaczek s. Cytogenet Genome Res. 2013;139(1):9-16. doi: 10.1159/000342165. Epub 2012 Sep 5. Cytogenet Genome Res. 2013. PMID: 22965227
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Tomaszewska A, Podbiol-Palenta A, Boter M, Geisler G, Wawrzkiewicz-Witkowska A, Galjaard RJ, Zajączek S, Srebniak MI. Tomaszewska A, et al. Among authors: zajaczek s. Am J Med Genet A. 2013 Sep;161A(9):2347-51. doi: 10.1002/ajmg.a.36076. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918240
Prenatal diagnosis of rare fetal anomalies--a case report.
Piotrowski K, Constantinou M, Patalan J, Waloszczyk P, Celewicz Z, Kałuzewski B, Medrek K, Zajaczek S. Piotrowski K, et al. Among authors: zajaczek s. Ginekol Pol. 2011 Jul;82(7):541-5. Ginekol Pol. 2011. PMID: 21913434
Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.
Petriczko E, Biczysko-Mokosa A, Bogdanowicz J, Constantinou M, Zdziennicka E, Horodnicka-Jozwa A, Barg E, Gawlik-Zawislak S, Sulek-Piatkowska A, Dawid G, Walczak M, Pesz K, Kedzia A, Zajaczek S. Petriczko E, et al. Among authors: zajaczek s. Am J Med Genet A. 2012 Jun;158A(6):1442-6. doi: 10.1002/ajmg.a.35345. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581569 Review.
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
Iwanowski PS, Panasiuk B, Van Buggenhout G, Murdolo M, Myśliwiec M, Maas NM, Lattante S, Korniszewski L, Posmyk R, Pilch J, Zajączek S, Fryns JP, Zollino M, Midro AT. Iwanowski PS, et al. Among authors: zajaczek s. Am J Med Genet A. 2011 Aug;155A(8):1833-47. doi: 10.1002/ajmg.a.34005. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744486
53 results