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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752.
Nat Genet. 2001.
PMID: 11687798
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV.
Vollmer M, et al. Among authors: beekmann f.
Nephrol Dial Transplant. 2000 Jul;15(7):970-4. doi: 10.1093/ndt/15.7.970.
Nephrol Dial Transplant. 2000.
PMID: 10862633
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Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F.
Ruf R, et al. Among authors: beekmann f.
Pediatr Nephrol. 2003 Feb;18(2):105-9. doi: 10.1007/s00467-002-1018-8. Epub 2002 Dec 18.
Pediatr Nephrol. 2003.
PMID: 12579397
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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F.
Otto EA, et al. Among authors: beekmann f.
Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217.
Nat Genet. 2003.
PMID: 12872123
Free PMC article.
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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.
Ruf RG, et al. Among authors: beekmann f.
Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12.
Proc Natl Acad Sci U S A. 2004.
PMID: 15141091
Free PMC article.
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