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Items: 1 to 20 of 22

1.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF.

Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70.

2.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF.

J Dent Res. 2012 Jul;91(7 Suppl):29S-37S.

3.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866.

4.

Schimke immunoosseous dysplasia: defining skeletal features.

Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Fründ S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF.

Eur J Pediatr. 2010 Jul;169(7):801-11. doi: 10.1007/s00431-009-1115-9. Epub 2009 Dec 15.

5.

Improved growth and cardiovascular risk after late steroid withdrawal: 2-year results of a prospective, randomised trial in paediatric renal transplantation.

Höcker B, Weber LT, Feneberg R, Drube J, John U, Fehrenbach H, Pohl M, Zimmering M, Fründ S, Klaus G, Wühl E, Tönshoff B.

Nephrol Dial Transplant. 2010 Feb;25(2):617-24. doi: 10.1093/ndt/gfp506. Epub 2009 Sep 30.

PMID:
19793929
6.

Prospective, randomized trial on late steroid withdrawal in pediatric renal transplant recipients under cyclosporine microemulsion and mycophenolate mofetil.

Höcker B, Weber LT, Feneberg R, Drube J, John U, Fehrenbach H, Pohl M, Zimmering M, Fründ S, Klaus G, Wühl E, Tönshoff B.

Transplantation. 2009 Mar 27;87(6):934-41. doi: 10.1097/TP.0b013e31819b6d4a.

PMID:
19300199
7.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M.

Am J Kidney Dis. 2006 Dec;48(6):942.e1-14.

PMID:
17162149
8.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF.

Hum Mutat. 2007 Mar;28(3):273-83.

PMID:
17089404
9.

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A.

Pediatr Nephrol. 2006 Sep;21(9):1241-50. Epub 2006 Jun 29.

PMID:
16807762
10.

A randomized crossover trial comparing sevelamer with calcium acetate in children with CKD.

Pieper AK, Haffner D, Hoppe B, Dittrich K, Offner G, Bonzel KE, John U, Fründ S, Klaus G, Stübinger A, Düker G, Querfeld U.

Am J Kidney Dis. 2006 Apr;47(4):625-35.

PMID:
16564940
11.

[Fetal nephro-/uropathy: a retrospective analysis of 124 cases seen in the period from 1996 to 2002].

Bulla M, Kuwertz-Bröking E, Fründ S, Schulze Everding A, Louwen F, Baez E, Steinhard J, Brinkmann O, August C, Harms E, Hertle L, Kiesel L.

Z Geburtshilfe Neonatol. 2005 Jun;209(3):100-7. German.

PMID:
15995942
12.

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Fründ S, Kaitila I, Lama G, Lamfers P, Lücke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF.

Am J Med Genet A. 2005 Jun 1;135(2):206-10.

PMID:
15884045
13.

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF; APN Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Clin Nephrol. 2003 May;59(5):353-9.

PMID:
12779097
14.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW.

Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.

PMID:
11799392
15.

Familial hypomagnesemia-hypercalciuria in 2 siblings.

Kuwertz-Bröking E, Fründ S, Bulla M, Kleta R, August C, Kisters K.

Clin Nephrol. 2001 Aug;56(2):155-61.

PMID:
11522093
16.
17.

Intraperitoneal application of low-molecular-weight heparin in continuous ambulatory peritoneal dialysis in a child.

Kleta R, Fründ S, Kuwertz-Bröking E, Bulla M.

Nephron. 2000 Dec;86(4):545. No abstract available.

PMID:
11124625
18.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanovíć R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormälä T, Rener-Primec Z, Santava A, Santos HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R.

Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7.

PMID:
10653321
19.

The addition of aminoacids and phosphate to hemodiafiltration solutions in newborns with hyperammonemic coma.

Fründ S, Kuwertz-Bröking E, Koch HG, Bulla M, Harms E.

Clin Nephrol. 1996 Jul;46(1):64-6.

PMID:
8832155
20.

Renal insufficiency in neonates after cardiac surgery.

Asfour B, Bruker B, Kehl HG, Fründ S, Scheld HH.

Clin Nephrol. 1996 Jul;46(1):59-63.

PMID:
8832154

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