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Items: 1 to 20 of 172

1.

Genetic forms of nephrotic syndrome: a single-center experience in Brussels.

Ismaili K, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M.

Pediatr Nephrol. 2009 Feb;24(2):287-94. doi: 10.1007/s00467-008-0953-4. Epub 2008 Aug 16. Erratum in: Pediatr Nephrol. 2009 Feb;24(2):425. Pawtowski, Audrey [added]; Boyer, Olivia [added].

PMID:
18709391
2.

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group.

Pediatrics. 2007 Apr;119(4):e907-19. Epub 2007 Mar 19.

PMID:
17371932
3.

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.

Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15.

4.

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Mbarek IB, Abroug S, Omezzine A, Pawtowski A, Gubler MC, Bouslama A, Harbi A, Antignac C.

Pediatr Nephrol. 2011 Feb;26(2):241-9. doi: 10.1007/s00467-010-1694-8. Epub 2010 Dec 2.

PMID:
21125408
5.

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Santín S, Bullich G, Tazón-Vega B, García-Maset R, Giménez I, Silva I, Ruíz P, Ballarín J, Torra R, Ars E.

Clin J Am Soc Nephrol. 2011 May;6(5):1139-48. doi: 10.2215/CJN.05260610. Epub 2011 Mar 17.

6.

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM.

Pediatr Nephrol. 2006 Oct;21(10):1393-8. Epub 2006 Aug 15.

PMID:
16909243
7.

[The genetic basis of childhood nephrotic syndrome].

Maruniak-Chudek I, Niemir ZI, Swietliński J.

Postepy Hig Med Dosw (Online). 2004;58:405-15. Review. Polish.

8.

Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN).

Clin J Am Soc Nephrol. 2016 Feb 5;11(2):245-53. doi: 10.2215/CJN.07370715. Epub 2015 Dec 14.

9.

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C.

J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.

10.

Genetic forms of nephrotic syndrome.

Niaudet P.

Pediatr Nephrol. 2004 Dec;19(12):1313-8. Review.

PMID:
15503167
11.

WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.

Ramanathan AS, Vijayan M, Rajagopal S, Rajendiran P, Senguttuvan P.

Mol Cell Biochem. 2017 Feb;426(1-2):177-181. doi: 10.1007/s11010-016-2889-5. Epub 2016 Nov 25.

PMID:
27885584
12.

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.

Yang Y, Feng D, Huang J, Nie X, Yu Z.

Eur J Pediatr. 2013 Jan;172(1):127-9. doi: 10.1007/s00431-012-1770-0. Epub 2012 Jul 5.

PMID:
22763603
13.

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

Bińczak-Kuleta A, Rubik J, Litwin M, Ryder M, Lewandowska K, Taryma-Leśniak O, Clark JS, Grenda R, Ciechanowicz A.

Bosn J Basic Med Sci. 2014 May;14(2):89-93.

14.

Steroid-resistant nephrotic syndrome: impact of genetic testing.

Kari JA, El-Desoky SM, Gari M, Malik K, Vega-Warner V, Lovric S, Bockenhauer D.

Ann Saudi Med. 2013 Nov-Dec;33(6):533-8. doi: 10.5144/0256-4947.2013.533.

15.

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

Guaragna MS, Lutaif AC, Piveta CS, Souza ML, de Souza SR, Henriques TB, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP.

BMC Med Genet. 2015 Sep 29;16:88. doi: 10.1186/s12881-015-0231-9.

16.

[The genetic background of congenital nephrotic syndrome].

Zwolińska D.

Przegl Lek. 2006;63 Suppl 3:10-1. Review. Polish. No abstract available.

PMID:
16898476
17.

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, Hildebrandt F.

Pediatr Nephrol. 2007 Apr;22(4):509-13. Epub 2007 Jan 10.

PMID:
17216259
18.

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA.

Kidney Int. 2017 Apr;91(4):937-947. doi: 10.1016/j.kint.2016.10.013. Epub 2017 Jan 20.

PMID:
28117080
19.

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ.

Gene. 2012 Jul 10;502(2):133-7. doi: 10.1016/j.gene.2012.04.063. Epub 2012 Apr 28.

PMID:
22565185
20.

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

Al-Hamed MH, Al-Sabban E, Al-Mojalli H, Al-Harbi N, Faqeih E, Al Shaya H, Alhasan K, Al-Hissi S, Rajab M, Edwards N, Al-Abbad A, Al-Hassoun I, Sayer JA, Meyer BF.

J Hum Genet. 2013 Jul;58(7):480-9. doi: 10.1038/jhg.2013.27. Epub 2013 Apr 18.

PMID:
23595123

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