Literature DB >> 18065799

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.

Bethan E Hoskins, Carl H Cramer, Velibor Tasic, Elijah O Kehinde, Shazia Ashraf, Radovan Bogdanovic, Julia Hoefele, Martin Pohl, Friedhelm Hildebrandt.   

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Year:  2007        PMID： 18065799     DOI： 10.1093/ndt/gfm685

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  13 in total

Review 1.  Genetic basis of human congenital anomalies of the kidney and urinary tract.

Authors:  Simone Sanna-Cherchi; Rik Westland; Gian Marco Ghiggeri; Ali G Gharavi
Journal:  J Clin Invest       Date:  2018-01-02       Impact factor: 14.808

2.  Genetic basis of prune belly syndrome: screening for HNF1β gene.

Authors:  Candace F Granberg; Steven M Harrison; Daniel Dajusta; Shaohua Zhang; Sachin Hajarnis; Peter Igarashi; Linda A Baker
Journal:  J Urol       Date:  2011-11-23       Impact factor: 7.450

3.  Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Authors:  Pawaree Saisawat; Velibor Tasic; Virginia Vega-Warner; Elijah O Kehinde; Barbara Günther; Rannar Airik; Jeffrey W Innis; Bethan E Hoskins; Julia Hoefele; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2011-09-07       Impact factor: 10.612

Review 4.  Renal development in the fetus and premature infant.

Authors:  Stacy Rosenblum; Abhijeet Pal; Kimberly Reidy
Journal:  Semin Fetal Neonatal Med       Date:  2017-02-01       Impact factor: 3.926

Review 5.  HNF1B-associated clinical phenotypes: the kidney and beyond.

Authors:  Detlef Bockenhauer; Graciana Jaureguiberry
Journal:  Pediatr Nephrol       Date:  2015-07-08       Impact factor: 3.714

6.  Congenital anomalies of the kidney and urinary tract: a genetic disorder?

Authors:  Ihor V Yosypiv
Journal:  Int J Nephrol       Date:  2012-05-20

7.  Neuroendocrine modulation sustains the C. elegans forward motor state.

Authors:  Maria A Lim; Jyothsna Chitturi; Valeriya Laskova; Jun Meng; Daniel Findeis; Anne Wiekenberg; Ben Mulcahy; Linjiao Luo; Yan Li; Yangning Lu; Wesley Hung; Yixin Qu; Chi-Yip Ho; Douglas Holmyard; Ni Ji; Rebecca McWhirter; Aravinthan Dt Samuel; David M Miller; Ralf Schnabel; John A Calarco; Mei Zhen
Journal:  Elife       Date:  2016-11-18       Impact factor: 8.140

8.  Developmental pathology of congenital kidney and urinary tract anomalies.

Authors:  Sanjay Jain; Feng Chen
Journal:  Clin Kidney J       Date:  2018-12-01

9.  Growth mixture modelling in families of the Framingham Heart Study.

Authors:  Berit Kerner; Bengt O Muthén
Journal:  BMC Proc       Date:  2009-12-15

10.  Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Authors:  Daw-Yang Hwang; Gabriel C Dworschak; Stefan Kohl; Pawaree Saisawat; Asaf Vivante; Alina C Hilger; Heiko M Reutter; Neveen A Soliman; Radovan Bogdanovic; Elijah O Kehinde; Velibor Tasic; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2014-01-15       Impact factor: 10.612
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