| Artigo em revista |
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10.1016/j.ajhg.2018.12.016
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"Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly". Nature Genetics 49 10 (2017):
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- Colin, E.; Huynh Cong, E.; Mollet, G.; Guichet, A.; Gribouval, O.; Arrondel, C.; Boyer, O.; et al. "Loss-of-function mutations
in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome". Am J Hum
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10.1016/j.ajhg.2014.10.011
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Mutation in the Ciliary Gene TTC21B Causes Familial FSGS". Journal of the American Society of Nephrology 25 11 (2014):
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Kidney as a Reservoir for HIV-1 after Renal Transplantation". Journal of the American Society of Nephrology 25 2 (2014):
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Mutations Are Responsible for Bilateral Renal Agenesis in Humans". American Journal of Human Genetics 94 2 (2014):
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10.1016/j.ajhg.2013.12.017
- Tory, K.; Menyhard, D. K.; Woerner, S.; Nevo, F.; Gribouval, O.; Kerti, A.; Straner, P.; et al. "Mutation-dependent recessive
inheritance of NPHS2-associated steroid-resistant nephrotic syndrome". Nature Genetics 46 3 (2014): 299-+.
10.1038/ng.2898
- Michaud, A.; Acharya, K. R.; Masuyer, G.; Quenech'du, N.; Gribouval, O.; Moriniere, V.; Gubler, M. C.; Corvol, P.. "Absence
of cell surface expression of human ACE leads to perinatal death". Human Molecular Genetics 23 6 (2014): 1479-1491.
10.1093/hmg/ddt535
- Kofman, T.; Audard, V.; Narjoz, C.; Gribouval, O.; Matignon, M.; Leibler, C.; Desvaux, D.; Lang, P.; Grimbert, P.. "APOL1
Polymorphisms and Development of CKD in an Identical Twin Donor and Recipient Pair". American Journal of Kidney Diseases
63 5 (2014): 816-819.
10.1053/j.ajkd.2013.12.014
- Gee HY; Saisawat P; Ashraf S; Hurd TW; Vega-Warner V; Fang H; Beck BB; et al. "ARHGDIA mutations cause nephrotic syndrome
via defective RHO GTPase signaling.". (2013): http://europepmc.org/abstract/med/23867502.
10.1172/JCI69134
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nephrotic syndrome via defective RHO GTPase signaling". Journal of Clinical Investigation 123 8 (2013): 3243-3253.
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FSGS without Extrarenal Involvement". Journal of the American Society of Nephrology 24 8 (2013): 1216-1222.
10.1681/asn.2013020171
- Gribouval O; Morinière V; Pawtowski A; Arrondel C; Sallinen SL; Saloranta C; Clericuzio C; et al. "Spectrum of mutations in
the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.". (2012): http://europepmc.org/abstract/med/22095942.
10.1002/humu.21661
- Boyer O; Nevo F; Plaisier E; Funalot B; Gribouval O; Benoit G; Cong EH; et al. "INF2 mutations in Charcot-Marie-Tooth disease
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10.1056/NEJMoa1109122
- Boyer O; Benoit G; Gribouval O; Nevo F; Tête MJ; Dantal J; Gilbert-Dussardier B; et al. "Mutations in INF2 are a major cause
of autosomal dominant focal segmental glomerulosclerosis.". (2011): http://europepmc.org/abstract/med/21258034.
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- Michaud A; Bur D; Gribouval O; Muller L; Iturrioz X; Clemessy M; Gasc JM; Gubler MC; Corvol P. "Loss-of-function point mutations
associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.". (2011): http://europepmc.org/abstract/med/21036942.
10.1093/hmg/ddq465
- Boyer, O.; Benoit, G.; Gribouval, O.; Nevo, F.; Tete, M. J.; Dantal, J.; Gilbert-Dussardier, B.; et al. "Mutations in INF2
Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis". Journal of the American Society of Nephrology
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10.1681/asn.2010050518
- Schreiber R; Gubler MC; Gribouval O; Shalev H; Landau D. "Inherited renal tubular dysgenesis may not be universally fatal.".
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10.1007/s00467-010-1584-0
- Boyer O; Benoit G; Gribouval O; Nevo F; Pawtowski A; Bilge I; Bircan Z; et al. "Mutational analysis of the PLCE1 gene in steroid
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10.1136/jmg.2009.076166
- Machuca E; Benoit G; Nevo F; Tête MJ; Gribouval O; Pawtowski A; Brandström P; et al. "Genotype-phenotype correlations in non-Finnish
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10.1681/ASN.2009121309
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- Danilov SM; Kalinin S; Chen Z; Vinokour EI; Nesterovitch AB; Schwartz DE; Gribouval O; Gubler MC; Minshall RD. "Angiotensin
I-converting enzyme Gln1069Arg mutation impairs trafficking to the cell surface resulting in selective denaturation of the
C-domain.". (2010): http://europepmc.org/abstract/med/20454656.
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in Non-Finnish Congenital Nephrotic Syndrome". Journal of the American Society of Nephrology 21 7 (2010): 1209-1217.
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10.1051/jbio/2009035
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steroid-resistant nephrotic syndrome.". (2008): http://europepmc.org/abstract/med/18614772.
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10.1111/j.1440-1681.2008.04891.x
- Zingg-Schenk A; Bacchetta J; Corvol P; Michaud A; Stallmach T; Cochat P; Gribouval O; Gubler MC; Neuhaus TJ. "Inherited renal
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10.1007/s00431-007-0492-1
- Philippe, A.; Nevo, F.; Esquivel, E. L.; Reklaityte, D.; Gribouval, O.; Tete, M. J.; Loirat, C.; et al. "Nephrin mutations
can cause childhood-onset steroid-resistant nephrotic syndrome". Journal of the American Society of Nephrology 19 10
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10.1681/asn.2008010059
- Plaisier E; Gribouval O; Alamowitch S; Mougenot B; Prost C; Verpont MC; Marro B; et al. "COL4A1 mutations and hereditary angiopathy,
nephropathy, aneurysms, and muscle cramps.". (2007): http://europepmc.org/abstract/med/18160688.
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M S-Medecine Sciences 22 3 (2006): 246-248.
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system are associated with autosomal recessive renal tubular dysgenesis.". (2005): http://europepmc.org/abstract/med/16116425.
10.1038/ng1623
- Plaisier E; Alamowitch S; Gribouval O; Mougenot B; Gaudric A; Antignac C; Roullet E; Ronco P. "Autosomal-dominant familial
hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.". (2005): http://europepmc.org/abstract/med/15882279.
10.1111/j.1523-1755.2005.00341.x
- Ozer EA; Aksu N; Erdogan H; Yavascan O; Kara O; Gribouval O; Gubler MC; Antignac C. "A novel NPHS2 gene mutation in Turkish
children with familial steroid-resistant nephrotic syndrome.". (2004): http://europepmc.org/abstract/med/15504144.
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- Zhang SY; Marlier A; Gribouval O; Gilbert T; Heidet L; Antignac C; Gubler MC. "In vivo expression of podocyte slit diaphragm-associated
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- Weber S; Gribouval O; Esquivel EL; Morinière V; Tête MJ; Legendre C; Niaudet P; Antignac C. "NPHS2 mutation analysis shows
genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.". (2004): http://europepmc.org/abstract/med/15253708.
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- Roselli S; Moutkine I; Gribouval O; Benmerah A; Antignac C. "Plasma membrane targeting of podocin through the classical exocytic
pathway: effect of NPHS2 mutations.". (2004): http://europepmc.org/abstract/med/14675423.
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gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts". Journal of Medical Genetics 40 4 (2003):
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heterogeneity in autosomal dominant congenital cerulean cataracts.". (2002): http://europepmc.org/abstract/med/12567263.
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type 4 encodes a novel protein that interacts with nephrocystin.". (2002): http://europepmc.org/abstract/med/12244321.
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slit diaphragm area.". (2002): http://europepmc.org/abstract/med/11786407.
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the kidney to the slit diaphragm area". American Journal of Pathology 160 1 (2002): 131-139.
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cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors
from the Spanish Inquisition". Human Genetics 107 3 (2000): 276-284.
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gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations". American Journal
of Human Genetics 64 1 (1999): 51-61.
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an integral membrane protein is mutated in nephropathic cystinosis". Nature Genetics 18 4 (1998): 319-324.
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GENE (SRN1) TO CHROMOSOME 1Q25-Q31 IN IDIOPATHIC NEPHROTIC SYNDROME CONFIRMS A DISTINCT ENTITY OF AUTOSOMAL RECESSIVE NEPHROSIS".
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