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Items: 38

1.

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M.

J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937.

2.

Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis.

Vidal E, van Stralen KJ, Chesnaye NC, Bonthuis M, Holmberg C, Zurowska A, Trivelli A, Da Silva JEE, Herthelius M, Adams B, Bjerre A, Jankauskiene A, Miteva P, Emirova K, Bayazit AK, Mache CJ, Sánchez-Moreno A, Harambat J, Groothoff JW, Jager KJ, Schaefer F, Verrina E; ESPN/ERA-EDTA Registry.

Am J Kidney Dis. 2017 May;69(5):617-625. doi: 10.1053/j.ajkd.2016.09.024. Epub 2016 Dec 10.

PMID:
27955924
3.

Cyanosis in a male Nigerian infant with acute kidney injury: answers.

Pansy J, Mache CJ, Zobel G, Grangl G, Ring E, Hoffmann KM.

Pediatr Nephrol. 2014 Jun;29(6):1011-3. doi: 10.1007/s00467-013-2568-7. Epub 2013 Aug 30. No abstract available.

PMID:
23989394
4.

Cyanosis in a male Nigerian infant with acute kidney injury: questions.

Pansy J, Mache CJ, Zobel G, Grangl G, Ring E, Hoffmann KM.

Pediatr Nephrol. 2014 Jun;29(6):1009. doi: 10.1007/s00467-013-2566-9. Epub 2013 Aug 30. No abstract available.

PMID:
23989392
5.

Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.

Eggermann T, Spengler S, Denecke B, Zerres K, Mache CJ.

Clin Nephrol. 2013 Jan;79(1):78-80.

PMID:
23249873
6.

Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

Rodriguez PQ, Lohkamp B, Celsi G, Mache CJ, Auer-Grumbach M, Wernerson A, Hamajima N, Tryggvason K, Patrakka J.

Pediatr Nephrol. 2013 Feb;28(2):339-43. doi: 10.1007/s00467-012-2299-1. Epub 2012 Sep 11.

PMID:
22961558
7.

Hemodiafiltration in infants with complications during peritoneal dialysis.

Rödl S, Marschitz I, Mache CJ, Nagel B, Koestenberger M, Zobel G.

Artif Organs. 2012 Jul;36(7):590-3. doi: 10.1111/j.1525-1594.2011.01434.x. Epub 2012 Mar 16.

PMID:
22428733
8.

Continuous renal replacement therapy with Prismaflex HF20 disposable set in children from 4 to 15 kg.

Rödl S, Marschitz I, Mache CJ, Koestenberger M, Madler G, Zobel G.

ASAIO J. 2011 Sep-Oct;57(5):451-5. doi: 10.1097/MAT.0b013e31822d2132.

PMID:
21869621
9.

One-year safe use of the Prismaflex HF20(®) disposable set in infants in 220 renal replacement treatment sessions.

Rödl S, Marschitz I, Mache CJ, Koestenberger M, Madler G, Rehak T, Zobel G.

Intensive Care Med. 2011 May;37(5):884-5. doi: 10.1007/s00134-011-2147-y. Epub 2011 Feb 19. No abstract available.

PMID:
21336778
10.

First experience with the Prismaflex HF 20 set in four infants.

Rödl S, Marschitz I, Mache CJ, Koestenberger M, Madler G, Rehak T, Zobel G.

Int J Artif Organs. 2011 Jan;34(1):10-5.

PMID:
21298618
11.

Nephropathia epidemica (puumala virus infection) in Austrian children.

Acham-Roschitz B, Aberle SW, Pirker N, Kaulfersch W, Boehm M, Roedl S, Zenz W, Ring E, Mache CJ.

Pediatr Infect Dis J. 2010 Sep;29(9):874-6. doi: 10.1097/INF.0b013e3181dfbbe5.

PMID:
20400926
12.

Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.

Strobel S, Hoyer PF, Mache CJ, Sulyok E, Liu WS, Richter H, Oppermann M, Zipfel PF, Józsi M.

Nephrol Dial Transplant. 2010 Jan;25(1):136-44. doi: 10.1093/ndt/gfp388. Epub 2009 Aug 7.

PMID:
19666655
13.

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

Acham-Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache CJ, Sperl W, Mayr JA.

Mol Genet Metab. 2009 Nov;98(3):300-4. doi: 10.1016/j.ymgme.2009.06.012. Epub 2009 Jun 25.

PMID:
19616983
14.

Complement inhibitor eculizumab in atypical hemolytic uremic syndrome.

Mache CJ, Acham-Roschitz B, Frémeaux-Bacchi V, Kirschfink M, Zipfel PF, Roedl S, Vester U, Ring E.

Clin J Am Soc Nephrol. 2009 Aug;4(8):1312-6. doi: 10.2215/CJN.01090209. Epub 2009 Jun 25.

16.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV.

Hum Mol Genet. 2007 Feb 1;16(3):265-75. Epub 2007 Jan 8.

PMID:
17210674
17.

Severe chorea with positive anti-basal ganglia antibodies after herpesencephalitis.

Marschitz I, Rödl S, Gruber-Sedlmayr U, Church A, Giovannoni G, Zobel G, Mache CJ, Raith J, Plecko B.

J Neurol Neurosurg Psychiatry. 2007 Jan;78(1):105-7. No abstract available.

18.

Skin transplantation to monitor clinical donor-related tolerance in mixed hematopoietic chimerism.

Mache CJ, Schwinger W, Spendel S, Zach O, Regauer S, Ring E.

Pediatr Transplant. 2006 Feb;10(1):128-31.

PMID:
16499603
19.

Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-alpha blockage.

Deutschmann A, Mache CJ, Bodo K, Zebedin D, Ring E.

Pediatrics. 2005 Nov;116(5):1231-3.

PMID:
16264014
20.

Hydronephrotic kidney: pediatric three-dimensional US for relative renal size assessment--initial experience.

Riccabona M, Fritz GA, Schöllnast H, Schwarz T, Deutschmann MJ, Mache CJ.

Radiology. 2005 Jul;236(1):276-83. Epub 2005 Jun 13.

PMID:
15955855
21.

Importance of environmental transmission in cases of EHEC O157 causing hemolytic uremic syndrome.

Grif K, Orth D, Lederer I, Berghold C, Roedl S, Mache CJ, Dierich MP, Würzner R.

Eur J Clin Microbiol Infect Dis. 2005 Apr;24(4):268-71.

PMID:
15902533
22.

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW, Aldred MA, Trembath RC.

Circulation. 2005 Feb 1;111(4):435-41.

PMID:
15687131
23.

Hemolytic-uremic syndrome associated with enterohemorrhagic Escherichia coli O26:H infection and consumption of unpasteurized cow's milk.

Allerberger F, Friedrich AW, Grif K, Dierich MP, Dornbusch HJ, Mache CJ, Nachbaur E, Freilinger M, Rieck P, Wagner M, Caprioli A, Karch H, Zimmerhackl LB.

Int J Infect Dis. 2003 Mar;7(1):42-5.

24.
25.

De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease.

Mache CJ, Preisegger KH, Kopp S, Ratschek M, Ring E.

Pediatr Nephrol. 2002 Dec;17(12):1021-6. Epub 2002 Nov 14.

PMID:
12478351
26.

Future expectations--what paediatric nephrologists and urologists await from paediatric uroradiology.

Ring E, Mache CJ, Vilits P.

Eur J Radiol. 2002 Aug;43(2):94-9. Review.

PMID:
12127206
27.

Prothrombin fragment 1+2 during oral anticoagulation in congenital nephrotic syndrome.

Mache CJ, Muntean W, Resch B, Ring E.

Pediatr Nephrol. 1998 Sep;12(7):617. No abstract available.

PMID:
9761365
28.

FK 506 and successful pregnancy in a patient after renal transplantation.

Resch B, Mache CJ, Windhager T, Holzer H, Leitner G, Müller W.

Transplant Proc. 1998 Feb;30(1):163-4. No abstract available.

PMID:
9474990
29.

Autosomal dominant familial Mediterranean fever--like syndrome.

Mache CJ, Goriup U, Fischel-Ghodsian N, Chen X, Schwingshandl J.

Eur J Pediatr. 1996 Sep;155(9):787-90.

PMID:
8874113
30.

Perinatal manifestations of idiopathic long QT syndrome.

Mache CJ, Beitzke A, Haidvogl M Jr, Gamillscheg A, Suppan C, Stein JI.

Pediatr Cardiol. 1996 Mar-Apr;17(2):118-21.

PMID:
8833499
31.

Adoptive immunotransfer with viable donor mononuclear cells for recurrent chronic myelogenous leukemia after allogeneic bone marrow transplantation in two children.

Schwinger W, Urban C, Mache CJ, Resch B, Lackner H, Höfler G, Beham-Schmid C, Gilli R, Wagner K, Haas OA, et al.

Pediatr Hematol Oncol. 1995 Jan-Feb;12(1):47-54.

PMID:
7703041
32.

Amyloid goiter in a child with familial Mediterranean fever.

Mache CJ, Schwingshandl J, Ring E, Pfleger A, Borkenstein MH.

J Pediatr Endocrinol. 1994 Oct-Dec;7(4):371-2.

PMID:
7735378
33.

Familial hemophagocytic lymphohistiocytosis associated with disseminated T-cell lymphoma: a report of two siblings.

Mache CJ, Slavc I, Schmid C, Hoefler G, Urban CE, Schwinger W, Winter E, Hulla W, Zenz W, Holter W.

Ann Hematol. 1994 Aug;69(2):85-91.

PMID:
8080885
34.

SHORT syndrome and insulin resistance.

Schwingshandl J, Mache CJ, Rath K, Borkenstein MH.

Am J Med Genet. 1993 Nov 1;47(6):907-9. Review.

PMID:
8279490
35.

Undifferentiated (embryonal) sarcoma of the liver in childhood. Successful combined-modality therapy in four patients.

Urban CE, Mache CJ, Schwinger W, Pakisch B, Ranner G, Riccabona M, Schimpl G, Brandesky G, Messner H, Pobegen W, et al.

Cancer. 1993 Oct 15;72(8):2511-6.

PMID:
8402469
36.

Ultrasound and MRI findings in a case of childhood amyloid goiter.

Mache CJ, Schwingshandl J, Riccabona M, Ranner G, Ring E, Fock C, Ratschek M, Malle E, Borkenstein MH.

Pediatr Radiol. 1993;23(7):565-6.

PMID:
8309770
37.

[Haemophilus influenzae type B (Hib) meningitis in a 14-month-old child despite two vaccinations with Hib conjugate vaccine (PRP-D)].

Muntean W, Mache CJ.

Wien Klin Wochenschr. 1993;105(18):523-6. German. No abstract available.

PMID:
8237015
38.

[Complications of two series of 1000 each heart catheterization studies in childhood].

Beitzke A, Mache CJ, Stein JI, Suppan C.

Wien Klin Wochenschr. 1991;103(3):75-81. German.

PMID:
2028616

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