Lista de obras - Olivier Gribouval - Dominio Público Uruguay

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

artículo científico publicado en 2018

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

artículo científico publicado en 2014

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

artículo científico publicado en 1998

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

artículo científico publicado en 2015

APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair

artículo científico publicado en 2014

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

Absence of cell surface expression of human ACE leads to perinatal death

scientific article published on 24 October 2013

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

artículo científico publicado en 2009

Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain

artículo científico publicado en 2010

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

artículo científico publicado en 2005

CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

artículo científico publicado en 2008

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

artículo científico publicado en 2007

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

article

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

artículo científico publicado en 2002

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

artículo científico publicado en 2003

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

artículo científico publicado en 2010

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

artículo científico publicado en 2011

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

artículo científico publicado en 2004

Inherited renal tubular dysgenesis may not be universally fatal

artículo científico publicado en 2010

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

article by Andrea Zingg-Schenk et al published 19 April 2007 in European Journal of Pediatrics

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

artículo científico publicado en 2014

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

artículo científico publicado en 2014

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

artículo científico publicado en 2010

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

artículo científico publicado en 2017

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

artículo científico publicado en 1995

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

article published in 2014

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

article

Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale

article

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

artículo científico publicado en 2011

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

artículo científico publicado en 2017

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

artículo científico publicado en 2005

Mutations in renin-angiotensin system genes and kidney developmental anomalies

artículo científico publicado en 2009

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

artículo científico publicado en 2017

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

artículo científico publicado en 2008

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

artículo científico publicado en 2004

Podocin localizes in the kidney to the slit diaphragm area

artículo científico publicado en 2002

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

artículo científico publicado en 1996

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

scientific article published on 17 June 2020

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

artículo científico publicado en 1999

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

artículo científico publicado en 2002

The kidney as a reservoir for HIV-1 after renal transplantation

artículo científico publicado en 2013

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

artículo científico publicado en 2000

Lista de obras de Olivier Gribouval

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

APOL1 polymorphisms and development of CKD in an identical twin donor and recipient pair

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Absence of cell surface expression of human ACE leads to perinatal death

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

Angiotensin I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the C-domain

Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome

CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

Inherited renal tubular dysgenesis may not be universally fatal

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

LMX1B mutations cause hereditary FSGS without extrarenal involvement

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Mutations des gènes du système rénine-angiotensine et dysgénésie tubulaire rénale

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Mutations in renin-angiotensin system genes and kidney developmental anomalies

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

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

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations

Podocin localizes in the kidney to the slit diaphragm area

Presymptomatic diagnosis of familial steroid-resistant riephrotic syndrome

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

The kidney as a reservoir for HIV-1 after renal transplantation

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.