Publikacje naukowe
Publikacje naukowe GENESIS 2008-2010
Prace oryginalne w czasopismach o zasięgu międzynarodowym
Jamsheer A, Sowinska A, Kaczmarek L, Latos-Bielenska A. Isolated brachydactyly type E can be caused by a HOXD13 nonsense mutation: a case report.
BMC Medical Genetics 2012, 13:4. IF=2,44
Pacholska-Bogalska J, Myga-Nowak M, Ciepluch K, Jozefiak A, Kwasniewska A, Gozdzicka-Jozefiak A. Analysis of the coding sequence and expression of the coiled-coil α-helical rod protein 1 gene in normal and neoplastic epithelial cervical cells. Int J Mol Med 2011. IF=1,98
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. Frequency of 22q11.2 microdeletion in children with congenital heart defects in Western Poland. BMC Pediatr. 2010;10:88. IF=2,11
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family. BMC Med Genet. 2010; 11:110. IF=2,84
Jamsheer A, Badura-Stronka M, Sowińska A, Debicki S, Kiryluk K, Latos-Bieleńska A. A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. Clin Genet. 2010;78(1):94-7. IF=3,304
Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010;86(6):949-56. IF=12,303
Badura-Stronka M, Jamsheer A, Materna-Kiryluk A, Sowińska A, Kiryluk K, Budny B, Latos-Bieleńska A. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Clin Genet. 2010;77(2):141-4. IF=3,304
Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A. A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. J Appl Genet. 2009;50(4):405-10. IF=1,351
Jamsheer A, Smyk M, Wierzba J, Kołowska J, Woźniak A, Skołozdrzy J, Fischer M, Latos-Bieleńska A. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps. J Appl Genet. 2008;49(4):397-405. IF=1,351
Jamsheer, A. Materna-Kiryluk, A. Latos-Bieleńska A: Valproic acid and pregnancy: clinical presentation of 3 cases with valproate embryopathy. Archives of Perinatal Medicine 14(1): 57-60, 2008.
