| Evidence | Mutation in Reflux Nephropathy
- Choi KL, McNoe LA, French MC, Guilford PJ, Eccles MR, Choi KL, McNoe LA, French MC, Guilford PJ, Eccles MR Absence of PAX2 gene mutations in patients with primary familialvesicoureteric reflux. J Med Genet 1998 Apr;35(4):338-9.
- Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR, Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR Mutation of the PAX2 gene in a family with optic nerve colobomas, renalanomalies and vesicoureteral reflux. Nat Genet 1995 Apr;9(4):358-64.
Mutation in System Syndrom with Kidney Involvment
- Ford B, Rupps R, Lirenman D, Van Allen MI, Farquharson D, Lyons C, Friedman JM Renal-coloboma syndrome: prenatal detection and clinical spectrum in alarge family. Am J Med Genet 2001 Mar 1;99(2):137-41.
- Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T, Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism. Eur J Hum Genet 2000 Nov;8(11):820-6.
- Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A Missense mutation and hexanucleotide duplication in the PAX2 gene in twounrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet 1998 Aug;103(2):149-53.
- Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR Further delineation of renal-coloboma syndrome in patients with extremevariability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997 Apr;60(4):869-78.
- Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R 3rd Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthalmol 2001 Dec;132(6):910-4.
- Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL Renal coloboma syndrome. Ophthalmology 2001 Oct;108(10):1912-6.
- Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB Homonucleotide expansion and contraction mutations of PAX2 and inclusionof Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat 1999;14(5):369-76.
- van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ, van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ Autosomal dominant Alport syndrome caused by a COL4A3 splice sitemutation. Kidney Int 2000 Nov;58(5):1870-5.
Mutation in Abnormal Kidney Development
Other key publications related to this gene
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