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Results: 1 to 20 of 101

1.

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG.

Pediatr Nephrol. 2011 Jun;26(6):897-903. doi: 10.1007/s00467-011-1826-9. Epub 2011 Mar 5.

PMID:
21380624
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R.

J Am Soc Nephrol. 2006 Oct;17(10):2864-70. Epub 2006 Sep 13.

PMID:
16971658
[PubMed - indexed for MEDLINE]
Free Article
3.

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.

Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L.

Clin Genet. 2011 Dec;80(6):581-5. doi: 10.1111/j.1399-0004.2010.01588.x. Epub 2010 Nov 25.

PMID:
21108633
[PubMed - indexed for MEDLINE]
4.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R.

Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90. doi: 10.2215/CJN.06810909. Epub 2010 Apr 8.

PMID:
20378641
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gübler MC, Antignac C, Heidet L.

Clin J Am Soc Nephrol. 2013 Jul;8(7):1179-87. doi: 10.2215/CJN.10221012. Epub 2013 Mar 28.

PMID:
23539225
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.

Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K.

Pediatr Nephrol. 2010 Jun;25(6):1073-9. doi: 10.1007/s00467-010-1454-9. Epub 2010 Feb 13.

PMID:
20155289
[PubMed - indexed for MEDLINE]
7.

PAX2 mutations in fetal renal hypodysplasia.

Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC.

Am J Med Genet A. 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133.

PMID:
20358591
[PubMed - indexed for MEDLINE]
8.

Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis.

Paces-Fessy M, Fabre M, Lesaulnier C, Cereghini S.

Hum Mol Genet. 2012 Jul 15;21(14):3143-55. doi: 10.1093/hmg/dds141. Epub 2012 Apr 17.

PMID:
22511595
[PubMed - indexed for MEDLINE]
Free Article
9.

Heat-shock mediated overexpression of HNF1β mutations has differential effects on gene expression in the Xenopus pronephric kidney.

Sauert K, Kahnert S, Roose M, Gull M, Brändli AW, Ryffel GU, Waldner C.

PLoS One. 2012;7(3):e33522. doi: 10.1371/journal.pone.0033522. Epub 2012 Mar 15.

PMID:
22438943
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M.

Hum Mol Genet. 2000 Jan 1;9(1):1-11.

PMID:
10587573
[PubMed - indexed for MEDLINE]
Free Article
11.

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.

Clin Nephrol. 2007 Jan;67(1):1-4.

PMID:
17269592
[PubMed - indexed for MEDLINE]
12.

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB.

Hum Mutat. 1999;14(5):369-76.

PMID:
10533062
[PubMed - indexed for MEDLINE]
13.

PAX2 gene mutation in a family with isolated renal hypoplasia.

Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N.

J Am Soc Nephrol. 2001 Aug;12(8):1769-72.

PMID:
11461952
[PubMed - indexed for MEDLINE]
Free Article
14.

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B.

J Am Soc Nephrol. 2013 Mar;24(4):550-8. doi: 10.1681/ASN.2012010097. Epub 2013 Mar 21.

PMID:
23520208
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C.

Am J Obstet Gynecol. 2010 Oct;203(4):364.e1-5. doi: 10.1016/j.ajog.2010.05.022. Epub 2010 Jul 15.

PMID:
20633866
[PubMed - indexed for MEDLINE]
16.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23.

PMID:
19389850
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A clinico-genetic study of renal coloboma syndrome in children.

Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y.

Pediatr Nephrol. 2007 Sep;22(9):1283-9. Epub 2007 May 31.

PMID:
17541647
[PubMed - indexed for MEDLINE]
18.

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI.

J Am Soc Nephrol. 2005 Sep;16(9):2754-61. Epub 2005 Jul 27. Review.

PMID:
16049068
[PubMed - indexed for MEDLINE]
Free Article
19.

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT.

Kidney Int. 2002 Apr;61(4):1243-51.

PMID:
11918730
[PubMed - indexed for MEDLINE]
Free Article
20.

Renal Coloboma Syndrome.

Bower MA, Schimmenti LA, Eccles MR.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Jun 08 [updated 2012 Jul 12].

PMID:
20301624
[PubMed]
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