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Year | Number of Results |
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1999 | 1 |
2002 | 1 |
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2010 | 2 |
2011 | 1 |
2013 | 1 |
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Page 1
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
J Hum Genet. 2013 Jul;58(7):480-9. doi: 10.1038/jhg.2013.27. Epub 2013 Apr 18.
J Hum Genet. 2013.
PMID: 23595123
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P.
Koziell A, et al.
Hum Mol Genet. 2002 Feb 15;11(4):379-88. doi: 10.1093/hmg/11.4.379.
Hum Mol Genet. 2002.
PMID: 11854170
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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.
Machuca E, et al.
J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.
J Am Soc Nephrol. 2010.
PMID: 20507940
Free PMC article.
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Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K.
Lenkkeri U, et al.
Am J Hum Genet. 1999 Jan;64(1):51-61. doi: 10.1086/302182.
Am J Hum Genet. 1999.
PMID: 9915943
Free PMC article.
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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.
Santín S, et al.
Clin J Am Soc Nephrol. 2011 May;6(5):1139-48. doi: 10.2215/CJN.05260610. Epub 2011 Mar 17.
Clin J Am Soc Nephrol. 2011.
PMID: 21415313
Free PMC article.
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Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M.
Ismaili K, et al.
Pediatr Nephrol. 2009 Feb;24(2):287-94. doi: 10.1007/s00467-008-0953-4. Epub 2008 Aug 16.
Pediatr Nephrol. 2009.
PMID: 18709391
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Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft für Paediatrische Nephrologie (GPN) Study Group.
Schoeb DS, et al.
Nephrol Dial Transplant. 2010 Sep;25(9):2970-6. doi: 10.1093/ndt/gfq088. Epub 2010 Feb 18.
Nephrol Dial Transplant. 2010.
PMID: 20172850
Free PMC article.
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