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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
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: wierzba j. 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: wierzba j. 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
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
Cornelia de Lange syndrome: extending the physical and psychological phenotype.
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC. Oliver C, et al. Among authors: wierzba j. Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363. Am J Med Genet A. 2010. PMID: 20425817 No abstract available.
Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Ratajska M, et al. Among authors: wierzba j. Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. doi: 10.1016/j.ejmg.2010.08.002. Epub 2010 Aug 18. Eur J Med Genet. 2010. PMID: 20727427
102 results