zur Stadt U - Search Results

1

Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).

zur Stadt U, Pruggmayer M, Jung H, Henter JI, Schneider M, Kabisch H, Janka G. zur Stadt U, et al. Prenat Diagn. 2002 Jan;22(1):80-1. doi: 10.1002/pd.231. Prenat Diagn. 2002. PMID: 11810660 No abstract available.

2

Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH).

zur Stadt U, Kabisch H, Janka G, Schneider EM. zur Stadt U, et al. Med Pediatr Oncol. 2003 Jul;41(1):26-9. doi: 10.1002/mpo.10310. Med Pediatr Oncol. 2003. PMID: 12764739

3

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.

Zur Stadt U, Beutel K, Weber B, Kabisch H, Schneppenheim R, Janka G. Zur Stadt U, et al. Blood. 2004 Sep 15;104(6):1909; author reply 1910. doi: 10.1182/blood-2004-02-0733. Blood. 2004. PMID: 15342365 Free article. No abstract available.

4

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. zur Stadt U, et al. Hum Mol Genet. 2005 Mar 15;14(6):827-34. doi: 10.1093/hmg/ddi076. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703195

5

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC. Zur Stadt U, et al. Hum Mutat. 2006 Jan;27(1):62-8. doi: 10.1002/humu.20274. Hum Mutat. 2006. PMID: 16278825

6

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M. Clementi R, et al. Among authors: zur stadt u. J Med Genet. 2001 Sep;38(9):643-6. doi: 10.1136/jmg.38.9.643. J Med Genet. 2001. PMID: 11565555 Free PMC article. No abstract available.

7

Familial and acquired hemophagocytic lymphohistiocytosis.

Janka G, zur Stadt U. Janka G, et al. Among authors: zur stadt u. Hematology Am Soc Hematol Educ Program. 2005:82-8. doi: 10.1182/asheducation-2005.1.82. Hematology Am Soc Hematol Educ Program. 2005. PMID: 16304363

8

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M. Sieni E, et al. Among authors: zur stadt u. J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19. J Med Genet. 2011. PMID: 21248318 Free PMC article.

9

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.

Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S. Bryceson YT, et al. Among authors: zur stadt u. Blood. 2012 Mar 22;119(12):2754-63. doi: 10.1182/blood-2011-08-374199. Epub 2012 Jan 31. Blood. 2012. PMID: 22294731 Free article.

10

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Trizzino A, et al. Among authors: zur stadt u. J Med Genet. 2008 Jan;45(1):15-21. doi: 10.1136/jmg.2007.052670. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873118

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