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Items: 18

1.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F.

Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30.

2.

Urinary tract effects of HPSE2 mutations.

Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group, Saggar A, Kinali M; 4C Study Group, Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS.

J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21.

3.

Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank.

Lambert HJ, Stewart A, Gullett AM, Cordell HJ, Malcolm S, Feather SA, Goodship JA, Goodship TH, Woolf AS; UK VUR Study Group.

Clin J Am Soc Nephrol. 2011 Apr;6(4):760-6. doi: 10.2215/CJN.04580510. Epub 2011 Mar 24.

4.

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.

Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship TH, Woolf AS, Kenda RB, Goodship JA; UK VUR Study Group.

J Am Soc Nephrol. 2010 Jan;21(1):113-23. doi: 10.1681/ASN.2009060624. Epub 2009 Dec 3.

5.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, Henkemeyer M, Zinn A, Baker LA, Wilcox DT, Woolf AS.

J Pediatr Urol. 2007 Feb;3(1):2-9.

6.

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.

Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL.

Am J Hum Genet. 2007 Apr;80(4):616-32. Epub 2007 Feb 14.

7.

Mutation analyses of Uroplakin II in children with renal tract malformations.

Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, de Bruyn R, Flanagan S, Thomas DF, Belk RA, Feather SA, Bingham C, Southgate J, Woolf AS.

Nephrol Dial Transplant. 2006 Dec;21(12):3415-21. Epub 2006 Sep 29.

PMID:
17012268
8.

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS.

J Am Soc Nephrol. 2005 Jul;16(7):2141-9. Epub 2005 May 11.

9.

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

Romio L, Fry AM, Winyard PJ, Malcolm S, Woolf AS, Feather SA.

J Am Soc Nephrol. 2004 Oct;15(10):2556-68.

10.

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity.

Jiang S, Gitlin J, Deng FM, Liang FX, Lee A, Atala A, Bauer SB, Ehrlich GD, Feather SA, Goldberg JD, Goodship JA, Goodship TH, Hermanns M, Hu FZ, Jones KE, Malcolm S, Mendelsohn C, Preston RA, Retik AB, Schneck FX, Wright V, Ye XY, Woolf AS, Wu XR, Ostrer H, Shapiro E, Yu J, Sun TT.

Kidney Int. 2004 Jul;66(1):10-9.

11.

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA.

Am J Med Genet A. 2003 Dec 1;123A(2):179-82.

PMID:
14598343
12.

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA.

J Am Soc Nephrol. 2003 Mar;14(3):680-9.

13.

Recent insights into kidney diseases associated with glomerular cysts.

Woolf AS, Feather SA, Bingham C.

Pediatr Nephrol. 2002 Apr;17(4):229-35. Review.

PMID:
11956871
14.

Identification of the gene for oral-facial-digital type I syndrome.

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B.

Am J Hum Genet. 2001 Mar;68(3):569-76. Epub 2001 Feb 13.

15.

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.

Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJ, Flinter FA, Proesmans W, Devriendt K, Carter J, Warwicker P, Goodship TH, Goodship JA.

Am J Hum Genet. 2000 Apr;66(4):1420-5. Epub 2000 Mar 17.

16.

Human malformation syndromes: lessons in kidney differentiation.

Woolf AS, Beales PL, Feather SA.

Adv Nephrol Necker Hosp. 1999;29:329-39. Review. No abstract available.

PMID:
10561754
17.
18.

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM.

Hum Mol Genet. 1997 Jul;6(7):1163-7.

PMID:
9215688

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