Weber S - Search Results

1

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.

Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376

2

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M. Weber S, et al. J Am Soc Nephrol. 2001 Sep;12(9):1872-1881. doi: 10.1681/ASN.V1291872. J Am Soc Nephrol. 2001. PMID: 11518780

3

Primary gene structure and expression studies of rodent paracellin-1.

Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, Grzeschik KH, Seyberth HW, Gröne HJ, Nüsing R, Konrad M. Weber S, et al. J Am Soc Nephrol. 2001 Dec;12(12):2664-2672. doi: 10.1681/ASN.V12122664. J Am Soc Nephrol. 2001. PMID: 11729235

4

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M. Schlingmann KP, et al. Among authors: weber s. Nat Genet. 2002 Jun;31(2):166-70. doi: 10.1038/ng889. Epub 2002 May 28. Nat Genet. 2002. PMID: 12032568

5

Recent advances in molecular genetics of hereditary magnesium-losing disorders.

Konrad M, Weber S. Konrad M, et al. Among authors: weber s. J Am Soc Nephrol. 2003 Jan;14(1):249-60. doi: 10.1097/01.asn.0000049161.60740.ce. J Am Soc Nephrol. 2003. PMID: 12506158 Review.

6

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.

Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M. Peters M, et al. Among authors: weber s. Kidney Int. 2003 Sep;64(3):923-32. doi: 10.1046/j.1523-1755.2003.00153.x. Kidney Int. 2003. PMID: 12911542 Free article.

7

Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study.

Tasic V, Dervisov D, Koceva S, Weber S, Konrad M. Tasic V, et al. Among authors: weber s. Pediatr Nephrol. 2005 Jul;20(7):1003-6. doi: 10.1007/s00467-005-1853-5. Epub 2005 Apr 26. Pediatr Nephrol. 2005. PMID: 15856319

8

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M. Schlingmann KP, et al. Among authors: weber s. J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17. J Am Soc Nephrol. 2005. PMID: 16107578

9

Recurrence of proteinuria 10 years post-transplant in NPHS2-associated focal segmental glomerulosclerosis after conversion from cyclosporin A to sirolimus.

Höcker B, Knüppel T, Waldherr R, Schaefer F, Weber S, Tönshoff B. Höcker B, et al. Among authors: weber s. Pediatr Nephrol. 2006 Oct;21(10):1476-9. doi: 10.1007/s00467-006-0148-9. Epub 2006 May 24. Pediatr Nephrol. 2006. PMID: 16721582

10

Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.

Schönfelder EM, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Schönfelder EM, et al. Among authors: weber s. Am J Kidney Dis. 2006 Jun;47(6):1004-12. doi: 10.1053/j.ajkd.2006.02.177. Am J Kidney Dis. 2006. PMID: 16731295

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