Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
D’Angelo CS, Gajęcka M, Kim ChA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP;
Hum Genet, 2009, 125: 551-563.
Publications
Publikacje pracowników w ePub
Angiotensin-converting enzyme (ACE, I/D) gene polymorphism and susceptibility to abdominal aortic aneurysm or aortoiliac occlusive disease.
Korcz A, Mikołajczyk-Stecyna J, Gabriel M, Zowczak-Drabarczyk M, Pawlaczyk K, Kalafirov M, Oszkinis G, Słomski R;
J Surg Res, 2009, 153 (1): 76-82.
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA;
Invest Ophthalmol Vis Sci, 2009, 50 (4): 1531-1539.
Screening of the general Polish population for deafness-associated mutations in mitochondrial 12SrRNA and tRNA Ser(UCN) genes.
Rydzanicz M, Wróbel M, Cywińska K, Froehlich D, Gawęcki W, Szyfter W, Szyfter K;
Genet Test Mol Biomarkers, 2009, 13 (2): 167-172.
The SNARE-associated component SNAPIN binds PUMILIO2 and NANOS1 proteins in human male germ cells.
Ginter-Matuszewska B, Spik A, Rembiszewska A, Koyias C, Kupryjanczyk J, Jaruzelska J;
Mol Hum Reprod, 2009, 15 (3): 173-179.
The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction.
Kusz KM, Tomczyk L, Sajek M, Spik A, Latos-Bielenska A, Jedrzejczak P, Pawelczyk L, Jaruzelska J;
Mol Hum Reprod, 2009, 15 (3): 165-171.
In situ reconstruction of humoral immune response against sperm: comparison of SCID and NOD/SCID mouse models.
Grygielska B, Kamieniczna M, Wiland E, Kurpisz M;
Am J Reprod Immunol, 2009, 61 (2): 147-157.
The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease.
Roycroft M, Fichna M, McDonald D, Owen K, Żurawek M, Gryczyńska M, Januszkiewicz-Lewandowska D, Fichna P, Cordell H, Donaldson P, Nowak J, Pearce S;
Clin Endocrinol, 2009; 70 (3): 358-362.
Activation of miR-17-92 by NK-like homeodomain proteins suppresses apoptosis via reduction of E2F1 in T-cell acute lymphoblastic leukemia.
Nagel S, Venturini L, Przybylski GK, Grabarczyk P, Schmidt ChA, Meyer C, Drexler HG, Macleod RAF, Scherr M;
Leukemia Lymphoma, 2009, 50 (1): 101-108.
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR - related disorders - updated European recommendations.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Duppens H, Georges MD, Ferec C, MacekM, Pignatti PF, Scheffere H, Schwarz M, Witt M, Girdon E;
Eur J of Humn Genet, 2009, 17 (1) 51-55.