Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH von Kowalczyk, M., Tomaszewska, A., Podbioł-Palenta, A., Constantinou, M., Wawrzkiewicz-Witkowska, A., Kowalski, J., Kałużewski, B., Zajączek, S., Srebniak, M.I.

Volltext

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis von Pietrusiński, M., Stańczyk-Przyłuska, A., Chlebna-Sokól, D., Borkowska, E., Kalużewski, B., Borowiec, M.

Volltext

Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH von Constantinou, M., Płowás, I., Kałużewski, B.

Volltext

Genetic diversity of urinary bladder cancer and the risk of recurrence based on mutation analysis von Traczyk-Borszynska, M, Borkowska, E, Jablonowski, Z, Jedrzejczyk, A, Pietrusinski, M, Kaluzewski, B, Sosnowski, M, Borowiec, M

Volltext

Richter syndrome first manifesting as cutaneous B-cell lymphoma clonally distinct from primary B-cell chronic lymphocytic leukaemia von Robak, E., Góra-Tybor, J., Kordek, R., Wawrzyniak, E., Bartkowiak, J., Bednarek, A., Constantinou, M., Kałużewski, B., Robak, T.

Volltext

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing von Kałużewski, Tadeusz, Pinkier, Iwona, Wysocka, Urszula, Sałamunia, Jordan, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Kałużewski, Bogdan, Gach, Agnieszka

Volltext

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2 von Panasiuk, B, Danik, J, Lurie, I, Stasiewicz-Jarocka, B, Leśniewicz, R, Sawicka, A, Kałużewski, B, Midro, A

Volltext

Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction von Jakubowski, L, Jeziorowska, A, Constantinou, M, Kałużewski, B

Volltext

The A148T variant of CDKN2A gene in bladder cancer von Borkowska, E, Jedrzejczyk, A, Kruk, A, Traczyk, M, Pietrusiński, M, Marks, P, Kaluzewski, B

Volltext

Prenatal screening for fetal chromosomal abnormalities using ear length and shape as an ultrasound marker von Dudarewicz, L, Kałuzewski, B

Volltext

Umbilical and middle cerebral artery blood velocimetry: relationship with placental volume von Dudarewicz, L, Kałuzewski, B

Volltext

Utility of the triple test in the detection of abnormalities of the feto-placental unit von Perenc, M, Dudarewicz, L, Kałuzewski, B

Volltext

Application of FISH and Q-PCR techniques in breakpoint diagnostics in three cases of marker chromosomes derived from chromosome 15 von Helszer, Z, Constantinou, M, Nowacka, J, Płucienniczak, G, Płucienniczak, A, Kałuzewski, B

Volltext

Extra structurally abnormal chromosomes (ESACs)--presentation of 10 new cases von Kałuzewski, B, Helszer, Z, Constantinou, M, Burkholder, S W, Coutinho, W G, Skorski, M, Corridori, L, Anderson, C E, Sherwood, M, Debiec-Rychter, M, Jackson, L G

Volltext

The role of selected egzo- and endogenic agents on preinitiation process of bladder cancer von Iwaniuk, A, Owczarek, M, PietrusiÅski, M, Borkowska, E, Rozniecki, M, Borowiec, M, Sosnowski, M, Kocki, J, KaÅużewski, B

Volltext

C207: Detection of bladder cancer in urine by a methylation panel of selected tumour suppressor genes von Pietrusiński, M, Borkowska, E, Kępczyński, Ł, Traczyk, M, Jędrzejczyk, A, Marks, P, Jabłonowski, Z, Sosnowski, M, Kałużewski, B, Borowiec, M

Volltext

P53 mutations in urinary bladder cancer patients from Central Poland von Borkowska, Edyta, Binka-Kowalska, Aleksandra, Constantinou, Maria, Nawrocka, Agnieszka, Matych, Józef, Kałuzewski, Bogdan

Volltext

C126: Molecular grading in bladder cancer versus conventional histopathology von Borkowska, E.M, Jablonowski, Z, Traczyk-Borszynska, M, Pietrusinski, M, Jedrzejczyk, A, Konecki, T, Rozniecki, M, Sosnowski, M, Kaluzewski, B, Borowiec, M

Volltext

C209: The significance of Ala179Thr polymorphism in WWOX gene in the bladder cancer development von Traczyk - Borszyńska, M, Borkowska, E, Pietrusiński, M, Jędrzejczyk, A, Konecki, T, Marks, P, Jabłonowski, Z, Sosnowski, M, Kałużewski, B, Borowiec, M

Volltext

C110 Genetic diversity of urinary bladder cancer and the risk of recurrence based on mutation assay using tumor and urine sediment DNA von Traczyk, M, Borkowska, E, Pietrusiński, M, Jędrzejczyk, A, Grzegorczyk, A, Marks, P, Rożniecki, M, Jabłonowski, Z, Sosnowski, M, Kałużewski, B

Volltext