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A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

artículo científico publicado en 2002

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2020

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2019

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

scientific article published on 04 September 2020

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

artículo científico publicado en 2002

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

artículo científico publicado en 2003

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

artículo científico publicado en 2003

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

artículo científico publicado en 2022

Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial

artículo científico publicado en 2020

Reduced Methotrexate Clearance and Renal Impairment in a Boy With Osteosarcoma and Earlier Undetected Autosomal Dominant Polycystic Kidney Disease (ADPKD) ⬇️

artículo científico publicado el 1 de noviembre de 2010

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

artículo científico publicado en 2022

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

artículo científico publicado en 2022

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