Roesler J - Search Results

1

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Hauck F, Magg T, Krolo A, Bilic I, Hirschmugl T, Laass M, Rösen-Wolff A, Luksch H, Boztug K, Roesler J. Hauck F, et al. Among authors: roesler j. Klin Padiatr. 2017 May;229(3):113-117. doi: 10.1055/s-0043-104218. Epub 2017 May 30. Klin Padiatr. 2017. PMID: 28561224 English.

2

Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency.

Roesler J, Hedrich C, Laass MW, Heyne K, Rösen-Wolff A. Roesler J, et al. Pediatr Infect Dis J. 2011 Mar;30(3):265-6. doi: 10.1097/INF.0b013e3181f6f78a. Pediatr Infect Dis J. 2011. PMID: 20842068

3

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.

Luksch H, Winkler S, Heymann MC, Schulze F, Hofmann SR, Roesler J, Rösen-Wolff A. Luksch H, et al. Among authors: roesler j. Curr Rheumatol Rep. 2015 Jul;17(7):45. doi: 10.1007/s11926-015-0520-5. Curr Rheumatol Rep. 2015. PMID: 26003867 Review.

4

Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome.

Kanariou M, Dracou C, Spanou K, Möller J, Rösen-Wolff A, Schuster V, Roesler J. Kanariou M, et al. Among authors: roesler j. Klin Padiatr. 2009 Nov-Dec;221(6):379-81. doi: 10.1055/s-0029-1239572. Epub 2009 Nov 4. Klin Padiatr. 2009. PMID: 19890791

5

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele.

Roesler J, Izquierdo JM, Ryser M, Rösen-Wolff A, Gahr M, Valcarcel J, Lenardo MJ, Zheng L. Roesler J, et al. Blood. 2005 Sep 1;106(5):1652-9. doi: 10.1182/blood-2004-08-3104. Epub 2005 May 3. Blood. 2005. PMID: 15870181 Free article.

6

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A. Luksch H, et al. Among authors: roesler j. Hum Mutat. 2013 Jan;34(1):122-31. doi: 10.1002/humu.22169. Epub 2012 Aug 10. Hum Mutat. 2013. PMID: 22833538

7

P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD).

Roesler J, Segerer F, Morbach H, Kleinert S, Thieme S, Rösen-Wolff A, Liese JG. Roesler J, et al. PLoS One. 2012;7(4):e34296. doi: 10.1371/journal.pone.0034296. Epub 2012 Apr 13. PLoS One. 2012. PMID: 22514628 Free PMC article.

8

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.

Pörksen G, Lohse P, Rösen-Wolff A, Heyden S, Förster T, Wendisch J, Heubner G, Bernuth H, Sallmann S, Gahr M, Roesler J. Pörksen G, et al. Among authors: roesler j. Eur J Haematol. 2004 Aug;73(2):123-7. doi: 10.1111/j.1600-0609.2004.00270.x. Eur J Haematol. 2004. PMID: 15245511

9

CARD15 genotype and phenotype analysis in 55 pediatric patients with Crohn disease from Saxony, Germany.

Sun L, Roesler J, Rösen-Wolff A, Winkler U, Koch R, Thürigen A, Henker J. Sun L, et al. Among authors: roesler j. J Pediatr Gastroenterol Nutr. 2003 Oct;37(4):492-7. doi: 10.1097/00005176-200310000-00017. J Pediatr Gastroenterol Nutr. 2003. PMID: 14508222

10

Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

Hauck F, Lee-kirsch MA, Aust D, Roesler J, Pessler F. Hauck F, et al. Among authors: roesler j. Arthritis Care Res (Hoboken). 2011 Mar;63(3):454-9. doi: 10.1002/acr.20361. Arthritis Care Res (Hoboken). 2011. PMID: 20890976 Free article. No abstract available.

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