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Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study.
Wysocka B, Brozek I, Wierzba J, Kardaś I, Woźniak A, Kowalczyk J, Balcerska A, Limon J. Wysocka B, et al. Among authors: kardas i. Ann Genet. 2002 Jul-Sep;45(3):143-6. doi: 10.1016/s0003-3995(02)01124-3. Ann Genet. 2002. PMID: 12381446
A girl with duplication 9q34 syndrome.
Gawlik-Kuklinska K, Iliszko M, Wozniak A, Debiec-Rychter M, Kardas I, Wierzba J, Limon J. Gawlik-Kuklinska K, et al. Among authors: kardas i. Am J Med Genet A. 2007 Sep 1;143A(17):2019-23. doi: 10.1002/ajmg.a.31847. Am J Med Genet A. 2007. PMID: 17663474
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: kardas i. 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
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: kardas i. 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.
14 results