Sümegi J - Search Results

1

Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.

Tóth B, Erdős M, Székely A, Ritli L, Bagossi P, Sümegi J, Maródi L. Tóth B, et al. Among authors: sumegi j. JIMD Rep. 2012;3:125-9. doi: 10.1007/8904_2011_80. Epub 2011 Sep 27. JIMD Rep. 2012. PMID: 23430884 Free PMC article.

2

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

Erdõs M, Uzvölgyi E, Nemes Z, Török O, Rákóczi E, Went-Sümegi N, Sümegi J, Maródi L. Erdõs M, et al. Among authors: sumegi j. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9339. Hum Mutat. 2005. PMID: 15841490

3

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L. Erdos M, et al. Among authors: sumegi j. Exp Hematol. 2006 Nov;34(11):1517-21. doi: 10.1016/j.exphem.2006.06.009. Exp Hematol. 2006. PMID: 17046571 Free article.

4

Association of renal ectopia with Fabry's disease in 3 patients.

Rákóczi E, Tóth B, Görögh S, Erdos M, Sümegi J, Maródi L. Rákóczi E, et al. Among authors: sumegi j. J Urol. 2009 Apr;181(4):1949-54. doi: 10.1016/j.juro.2008.11.091. Epub 2009 Feb 23. J Urol. 2009. PMID: 19237168

5

Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip.

Beiraghi S, Zhou M, Talmadge CB, Went-Sumegi N, Davis JR, Huang D, Saal H, Seemayer TA, Sumegi J. Beiraghi S, et al. Among authors: sumegi j. Gene. 2003 Apr 24;309(1):11-21. doi: 10.1016/s0378-1119(03)00461-x. Gene. 2003. PMID: 12727354

6

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C. Morra M, et al. Among authors: sumegi j. J Biol Chem. 2001 Sep 28;276(39):36809-16. doi: 10.1074/jbc.M101305200. Epub 2001 Jul 26. J Biol Chem. 2001. PMID: 11477068 Free article.

7

Expression of the RB gene under the control of MuLV-LTR suppresses tumorigenicity of WERI-Rb-27 retinoblastoma cells in immunodefective mice.

Sumegi J, Uzvolgyi E, Klein G. Sumegi J, et al. Cell Growth Differ. 1990 May;1(5):247-50. Cell Growth Differ. 1990. PMID: 1964797

8

A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.

Lanyi A, Li B, Li S, Talmadge CB, Brichacek B, Davis JR, Kozel BA, Trask B, van den Engh G, Uzvolgyi E, Stanbridge EJ, Nelson DL, Chinault C, Heslop H, Gross TG, Seemayer TA, Klein G, Purtilo DT, Sumegi J. Lanyi A, et al. Among authors: sumegi j. Genomics. 1997 Jan 1;39(1):55-65. doi: 10.1006/geno.1996.4466. Genomics. 1997. PMID: 9027486

9

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH. Tabata Y, et al. Among authors: sumegi j. Blood. 2005 Apr 15;105(8):3066-71. doi: 10.1182/blood-2004-09-3651. Epub 2005 Jan 4. Blood. 2005. PMID: 15632210 Free article. Clinical Trial.

10

Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.

Huang D, Eudy JD, Uzvolgyi E, Davis JR, Talmadge CB, Pretto D, Weston MD, Lehman JE, Zhou M, Seemayer TA, Ahmad I, Kimberling WJ, Sumegi J. Huang D, et al. Among authors: sumegi j. Genomics. 2002 Aug;80(2):195-203. doi: 10.1006/geno.2002.6823. Genomics. 2002. PMID: 12160733

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