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Page 1
Trisomy 8 mosaicism syndrome.
Wiśniewska M, Mazurek M. Wiśniewska M, et al. J Appl Genet. 2002;43(1):115-8. J Appl Genet. 2002. PMID: 12084977
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH. Budny B, et al. Among authors: wisniewska m. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17. Hum Genet. 2006. PMID: 16783569
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: wisniewska m. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.
A new case of DOOR syndrome.
Wiśniewska M, Siwińska Z, Felczak M, Wielkoszyński T, Krawczyński M, Latos-Bieleńska A. Wiśniewska M, et al. J Appl Genet. 2008;49(1):101-3. doi: 10.1007/BF03195254. J Appl Genet. 2008. PMID: 18263975
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.
Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A. Wozniak A, et al. Among authors: wisniewska m. BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88. BMC Pediatr. 2010. PMID: 21134246 Free PMC article.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: wisniewska m. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594
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: wisniewska m. 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.
From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.
Matuszewska KE, Bukowska-Olech E, Piechota M, Staniek-Łacna K, Drews K, Więckowska B, Koczyk G, Popiel D, Dawidziuk A, Kochalska N, Milanowska K, Białek-Prościńska A, Skrzypczak J, Hirschfeld AS, Wnuk-Kłosińska A, Wiśniewska M, Jamsheer A, Latos-Bieleńska A. Matuszewska KE, et al. Among authors: wisniewska m. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2364249. doi: 10.1080/14767058.2024.2364249. Epub 2024 Jul 28. J Matern Fetal Neonatal Med. 2024. PMID: 39069503 Free article. Review.
260 results