Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 189

1.

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

McCarthy HJ, Bierzynska A, Wherlock M, Ognjanovic M, Kerecuk L, Hegde S, Feather S, Gilbert RD, Krischock L, Jones C, Sinha MD, Webb NJ, Christian M, Williams MM, Marks S, Koziell A, Welsh GI, Saleem MA; RADAR the UK SRNS Study Group.

Clin J Am Soc Nephrol. 2013 Apr;8(4):637-48. doi: 10.2215/CJN.07200712. Epub 2013 Jan 24.

2.

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.

3.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F; Nephrotic Syndrome Study Group.

Clin J Am Soc Nephrol. 2014 Jun 6;9(6):1109-16. doi: 10.2215/CJN.09010813. Epub 2014 Apr 17.

4.

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S, Tazón-Vega B, Silva I, Cobo MÁ, Giménez I, Ruíz P, García-Maset R, Ballarín J, Torra R, Ars E; FSGS Spanish Study Group.

Clin J Am Soc Nephrol. 2011 Feb;6(2):344-54. doi: 10.2215/CJN.03770410. Epub 2010 Oct 14.

5.

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
6.

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.

PMID:
24413855
7.

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.

8.

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.

9.

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar RT, Hyla-Klekot L, Pasini A, Özcakar ZB, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska BS, Schnaidt S, Schaefer F; PodoNet Consortium.

Clin J Am Soc Nephrol. 2015 Apr 7;10(4):592-600. doi: 10.2215/CJN.06260614. Epub 2015 Jan 29.

10.

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
11.

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
12.

[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].

Shi Y, Ding J, Liu JC, Wang H, Bu DF.

Zhonghua Er Ke Za Zhi. 2005 Nov;43(11):805-9. Chinese.

PMID:
16316524
13.

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Boyer O, Benoit G, Gribouval O, Nevo F, Pawtowski A, Bilge I, Bircan Z, Deschênes G, Guay-Woodford LM, Hall M, Macher MA, Soulami K, Stefanidis CJ, Weiss R, Loirat C, Gubler MC, Antignac C.

J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.

PMID:
20591883
14.

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K, Boyer O, Gribouval O, Nevo F, Huynh-Cong E, Morinière V, Campait R, Ars E, Brackman D, Dantal J, Eckart P, Gigante M, Lipska BS, Liutkus A, Megarbane A, Mohsin N, Ozaltin F, Saleem MA, Schaefer F, Soulami K, Torra R, Garcelon N, Mollet G, Dahan K, Antignac C.

Hum Mutat. 2014 Feb;35(2):178-86. doi: 10.1002/humu.22485. Epub 2013 Dec 9. Review.

PMID:
24227627
15.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K.

Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14.

PMID:
23242530
16.

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Benoit G, Machuca E, Antignac C.

Pediatr Nephrol. 2010 Sep;25(9):1621-32. doi: 10.1007/s00467-010-1495-0. Epub 2010 Mar 24. Review.

17.

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group.

J Am Soc Nephrol. 2004 Mar;15(3):722-32.

18.

Genotype-phenotype associations in WT1 glomerulopathy.

Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium.

Kidney Int. 2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8.

PMID:
24402088
19.

NPHS2 mutations in children with steroid-resistant nephrotic syndrome.

Otukesh H, Ghazanfari B, Fereshtehnejad SM, Bakhshayesh M, Hashemi M, Hoseini R, Chalian M, Salami A, Mehdipor L, Rahiminia A.

Iran J Kidney Dis. 2009 Apr;3(2):99-102.

20.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group, Hildebrandt F.

J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.

PMID:
25349199
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk