Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1997 | 1 |
2010 | 1 |
2012 | 1 |
2013 | 2 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467.
Nat Genet. 1997.
PMID: 9398852
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R.
Bastian C, et al.
Fertil Steril. 2015 May;103(5):1297-304. doi: 10.1016/j.fertnstert.2015.01.043. Epub 2015 Mar 23.
Fertil Steril. 2015.
PMID: 25813279
Free article.
Item in Clipboard
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita LM, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti GD, Gok F, Gheissari A, Emma F, Krmar RT, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri GM, Schaefer F; PodoNet Consortium.
Lipska BS, et al.
Kidney Int. 2013 Jul;84(1):206-13. doi: 10.1038/ki.2013.93. Epub 2013 Mar 20.
Kidney Int. 2013.
PMID: 23515051
Free article.
Item in Clipboard
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
Guaragna MS, Lutaif AC, Piveta CS, Belangero VM, Maciel-Guerra AT, Guerra G Jr, De Mello MP.
Guaragna MS, et al.
Biochem Biophys Res Commun. 2013 Nov 15;441(2):371-6. doi: 10.1016/j.bbrc.2013.10.064. Epub 2013 Oct 22.
Biochem Biophys Res Commun. 2013.
PMID: 24161391
Item in Clipboard
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.
Hersmus R, et al.
PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18.
PLoS One. 2012.
PMID: 22815844
Free PMC article.
Item in Clipboard
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F.
Wang F, et al.
Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15.
Pediatr Nephrol. 2017.
PMID: 28204945
Free PMC article.
Item in Clipboard
WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
Li J, Ding J, Zhao D, Yu Z, Fan Q, Chen Y, Zhang H, Zhong X, Huang J, Yao Y, Xiao H.
Li J, et al.
Pediatr Res. 2010 Aug;68(2):155-8. doi: 10.1203/PDR.0b013e3181e4c9e3.
Pediatr Res. 2010.
PMID: 20442690
Item in Clipboard
Cite
Cite