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Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Svjetlana Lovric et al.
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Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing
Elizabeth J. Brown et al.
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S. Joshi et al.
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
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Olivia Boyer et al.
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Genetic screening in adolescents with steroid-resistant nephrotic syndrome
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Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Sheila Santin et al.
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Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
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Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
Genevieve Benoit et al.
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Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss
Tim Ulinski et al.
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A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome
Hua Sun et al.
PATHOLOGY (2009)
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study
Djalila Mekahli et al.
PEDIATRIC NEPHROLOGY (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome
Gil Chernin et al.
PEDIATRIC NEPHROLOGY (2008)
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome
Hee Yeon Cho et al.
PEDIATRIC NEPHROLOGY (2008)
NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome
Jianhua Mao et al.
PEDIATRIC RESEARCH (2007)
Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
Bernward G. Hinkes et al.
PEDIATRICS (2007)
Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome
Yoko Miyoshi et al.
ENDOCRINE JOURNAL (2006)
High incidence of initial and late steroid resistance in childhood nephrotic syndrome
JS Kim et al.
KIDNEY INTERNATIONAL (2005)
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children
ZH Yu et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2005)
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome
M Sako et al.
KIDNEY INTERNATIONAL (2005)
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
M Schultheiss et al.
PEDIATRIC NEPHROLOGY (2004)
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
N Boute et al.
NATURE GENETICS (2000)