Jazbec J - Search Results

1

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T. Vesel S, et al. Among authors: jazbec j. Eur J Hum Genet. 2003 Jan;11(1):97-101. doi: 10.1038/sj.ejhg.5200926. Eur J Hum Genet. 2003. PMID: 12529714

2

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

Debeljak M, Zver A, Jazbec J. Debeljak M, et al. Among authors: jazbec j. Am J Med Genet A. 2009 Feb 15;149A(4):755-9. doi: 10.1002/ajmg.a.32736. Am J Med Genet A. 2009. PMID: 19291770

3

Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Trampuš Bakija A, Debeljak M, Preložnik Zupan I, Benedik Dolničar M, Kovač J, Jazbec J. Trampuš Bakija A, et al. Among authors: jazbec j. Blood Transfus. 2015 Oct;13(4):622-30. doi: 10.2450/2015.0321-14. Epub 2015 May 15. Blood Transfus. 2015. PMID: 26057490 Free PMC article.

4

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group. Charbit-Henrion F, et al. Among authors: jazbec j. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262. J Pediatr Gastroenterol Nutr. 2017. PMID: 27253662

5

Neurological symptoms in patients whose cerebrospinal fluid is culture- and/or polymerase chain reaction-positive for Mycoplasma pneumoniae.

Socan M, Ravnik I, Bencina D, Dovc P, Zakotnik B, Jazbec J. Socan M, et al. Among authors: jazbec j. Clin Infect Dis. 2001 Jan 15;32(2):E31-5. doi: 10.1086/318446. Epub 2000 Dec 20. Clin Infect Dis. 2001. PMID: 11170938

6

Disease evolution and outcomes in familial AML with germline CEBPA mutations.

Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW, Treleaven J, Georgiades P, Uglow E, Asou N, Uike N, Debeljak M, Jazbec J, Ancliff P, Gale R, Thomas X, Mialou V, Döhner K, Bullinger L, Mueller B, Pabst T, Stelljes M, Schlegelberger B, Wozniak E, Iqbal S, Okosun J, Araf S, Frank AK, Lauridsen FB, Porse B, Nerlov C, Owen C, Dokal I, Gribben J, Smith M, Preudhomme C, Chelala C, Cavenagh J, Fitzgibbon J. Tawana K, et al. Among authors: jazbec j. Blood. 2015 Sep 3;126(10):1214-23. doi: 10.1182/blood-2015-05-647172. Epub 2015 Jul 10. Blood. 2015. PMID: 26162409 Free article.

7

Twins with Williams-Beuren Syndrome and Discordance for Wilms Tumor.

Velikonja O, Kavčič M, Rajić V, Jazbec J. Velikonja O, et al. Among authors: jazbec j. Pediatr Blood Cancer. 2016 Mar;63(3):570. doi: 10.1002/pbc.25786. Epub 2015 Oct 15. Pediatr Blood Cancer. 2016. PMID: 26469783 No abstract available.

8

Evans syndrome associated with antiphospholipid antibodies.

Avcin T, Jazbec J, Kuhar M, Zupancic M, Rozman B. Avcin T, et al. Among authors: jazbec j. J Pediatr Hematol Oncol. 2003 Sep;25(9):755-6. doi: 10.1097/00043426-200309000-00017. J Pediatr Hematol Oncol. 2003. PMID: 12972816 No abstract available.

9

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.

Debeljak M, Podkrajsek KT, Aplenc R, Jazbec J. Debeljak M, et al. Among authors: jazbec j. Pediatr Blood Cancer. 2008 Jan;50(1):187. doi: 10.1002/pbc.21216. Pediatr Blood Cancer. 2008. PMID: 17455312 No abstract available.

10

RUNX1 amplification in lineage conversion of childhood B-cell acute lymphoblastic leukemia to acute myelogenous leukemia.

Podgornik H, Debeljak M, Zontar D, Cernelc P, Prestor VV, Jazbec J. Podgornik H, et al. Among authors: jazbec j. Cancer Genet Cytogenet. 2007 Oct 1;178(1):77-81. doi: 10.1016/j.cancergencyto.2007.06.015. Cancer Genet Cytogenet. 2007. PMID: 17889714

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