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Items: 1 to 20 of 41

1.

Explorative visual analytics on interval-based genomic data and their metadata.

Jalili V, Matteucci M, Masseroli M, Ceri S.

BMC Bioinformatics. 2017 Dec 4;18(1):536. doi: 10.1186/s12859-017-1945-9.

2.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

PMID:
29100090
3.

Six1 is essential for differentiation and patterning of the mammalian auditory sensory epithelium.

Zhang T, Xu J, Maire P, Xu PX.

PLoS Genet. 2017 Sep 11;13(9):e1006967. doi: 10.1371/journal.pgen.1006967. eCollection 2017 Sep.

4.

Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.

Capone VP, Morello W, Taroni F, Montini G.

Int J Mol Sci. 2017 Apr 11;18(4). pii: E796. doi: 10.3390/ijms18040796. Review.

5.

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H.

Balkan J Med Genet. 2017 Mar 4;19(2):91-94. doi: 10.1515/bjmg-2016-0042. eCollection 2016 Dec 1.

6.

Renal development in the fetus and premature infant.

Rosenblum S, Pal A, Reidy K.

Semin Fetal Neonatal Med. 2017 Apr;22(2):58-66. doi: 10.1016/j.siny.2017.01.001. Epub 2017 Feb 1. Review.

PMID:
28161315
7.

Nephron number, hypertension, and CKD: physiological and genetic insight from humans and animal models.

Wang X, Garrett MR.

Physiol Genomics. 2017 Mar 1;49(3):180-192. doi: 10.1152/physiolgenomics.00098.2016. Epub 2017 Jan 27. Review.

PMID:
28130427
8.

Genetic Advances in the Understanding of Microtia.

Gendron C, Schwentker A, van Aalst JA.

J Pediatr Genet. 2016 Dec;5(4):189-197. Epub 2016 Sep 23. Review.

9.

Genetics of Vesicoureteral Reflux.

Nino F, Ilari M, Noviello C, Santoro L, Rätsch IM, Martino A, Cobellis G.

Curr Genomics. 2016 Feb;17(1):70-9. doi: 10.2174/1389202916666151014223507.

10.

Pluralistic and stochastic gene regulation: examples, models and consistent theory.

Salas EN, Shu J, Cserhati MF, Weeks DP, Ladunga I.

Nucleic Acids Res. 2016 Jun 2;44(10):4595-609. doi: 10.1093/nar/gkw042. Epub 2016 Jan 28.

11.

Exploring the genetic basis of early-onset chronic kidney disease.

Vivante A, Hildebrandt F.

Nat Rev Nephrol. 2016 Mar;12(3):133-46. doi: 10.1038/nrneph.2015.205. Epub 2016 Jan 11. Review.

12.

Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.

Moody SA, Neilson KM, Kenyon KL, Alfandari D, Pignoni F.

Comp Biochem Physiol C Toxicol Pharmacol. 2015 Dec;178:16-24. doi: 10.1016/j.cbpc.2015.06.007. Epub 2015 Jun 24. Review.

13.

Congenital anomalies of kidney and hand: a review.

Natarajan G, Jeyachandran D, Subramaniyan B, Thanigachalam D, Rajagopalan A.

Clin Kidney J. 2013 Apr;6(2):144-9. doi: 10.1093/ckj/sfs186. Epub 2013 Feb 3.

14.

End-stage renal failure associated with congenital deafness.

Annear NM, Gale DP, Loughlin S, Dorkins HR, Maxwell PH.

NDT Plus. 2008 Jun;1(3):171-5. doi: 10.1093/ndtplus/sfn019. Epub 2008 Mar 27. No abstract available.

15.

Hepatocyte nuclear factor-1β: A regulator of kidney development and cystogenesis.

Singh V, Singla SK, Jha V, Puri V, Puri S.

Indian J Nephrol. 2015 Mar-Apr;25(2):70-6. doi: 10.4103/0971-4065.139492. Review.

16.

The SIX1-EYA transcriptional complex as a therapeutic target in cancer.

Blevins MA, Towers CG, Patrick AN, Zhao R, Ford HL.

Expert Opin Ther Targets. 2015 Feb;19(2):213-25. doi: 10.1517/14728222.2014.978860. Epub 2015 Jan 2. Review.

17.

Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.

Safaya A, Shah S, Doshi B.

Indian J Otolaryngol Head Neck Surg. 2014 Jan;66(Suppl 1):356-8. doi: 10.1007/s12070-011-0441-1. Epub 2012 Jan 1.

18.

BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

Musharraf A, Kruspe D, Tomasch J, Besenbeck B, Englert C, Landgraf K.

PLoS One. 2014 Jan 29;9(1):e87407. doi: 10.1371/journal.pone.0087407. eCollection 2014.

19.

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

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F.

Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.

20.

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F.

Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8. Review.

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