Publications by authors named "Olivier Gribouval"

51Publications

APOL1 risk genotype in Europe: Data in patients with focal segmental glomerulosclerosis and after renal transplantation

Nephrol Ther 2019 04;15 Suppl 1:S85-S89

Inserm U1163, 24, boulevard du Montparnasse, 75015 Paris, France; Institut Imagine, 24, boulevard du Montparnasse, 75015 Paris, France; Université Paris Descartes, 24, boulevard du Montparnasse, 75015 Paris, France; Genetic Department, hôpital Necker-Enfants-malades, AP-HP, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.nephro.2019.02.005DOI Listing
April 2019

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Am J Hum Genet 2019 02 17;104(2):348-355. Epub 2019 Jan 17.

Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM U1163, Paris Descartes University, 75015 Paris, France; Department of Genetics, Reference center for Hereditary Kidney Diseases (MARHEA), Necker Hospital, APHP,75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369567PMC
February 2019

Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.

Kidney Int 2018 11;94(5):1013-1022

Inserm U1163, Imagine Institute, Paris Descartes University, Paris, France; Adult Nephrology & Transplantation, Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00852538183059
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http://dx.doi.org/10.1016/j.kint.2018.07.024DOI Listing
November 2018

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

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

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

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

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

J Am Soc Nephrol 2014 Nov 29;25(11):2435-43. Epub 2014 May 29.

INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France;

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http://www.jasn.org/cgi/doi/10.1681/ASN.2013101126
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http://dx.doi.org/10.1681/ASN.2013101126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214529PMC
November 2014

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

Am J Kidney Dis 2014 May 8;63(5):816-9. Epub 2014 Feb 8.

Service de Néphrologie et Transplantation, Hôpital Henri Mondor, Centre de référence maladie rare Syndrome Néphrotique Idiopathique, Institut Francilien de recherche en Néphrologie et Transplantation (IFRNT), INSERM U955, Université Paris Est Créteil, APHP (Assistance Publique-Hôpitaux de Paris, Créteil), Créteil, France.

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http://dx.doi.org/10.1053/j.ajkd.2013.12.014DOI Listing
May 2014

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

Nat Genet 2014 Mar 9;46(3):299-304. Epub 2014 Feb 9.

1] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Laboratory of Hereditary Kidney Diseases, Paris, France. [2] Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, France. [3] Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1038/ng.2898DOI Listing
March 2014

[Renal tubular dysgenesis and mutations in the renin-angiotensin system genes].

Bull Acad Natl Med 2014 Feb;198(2):339-48; discussion 348-9

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February 2014

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

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

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

Hum Mutat 2014 Feb 9;35(2):178-86. Epub 2013 Dec 9.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, Paris, France; Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.22485DOI Listing
February 2014

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

Hum Mol Genet 2014 Mar 24;23(6):1479-91. Epub 2013 Oct 24.

Collège de France, Center for Interdisciplinary Research in Biology (CIRB), 11 Place Marcelin Berthelot, Paris F-75005, France.

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http://dx.doi.org/10.1093/hmg/ddt535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929087PMC
March 2014

Inherited renal tubular dysgenesis may not be universally fatal.

Pediatr Nephrol 2010 Dec 6;25(12):2531-4. Epub 2010 Jul 6.

Department of Pediatrics, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel.

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http://dx.doi.org/10.1007/s00467-010-1584-0DOI Listing
December 2010

[Mutations in renin-angiotensin system genes and kidney developmental anomalies].

J Soc Biol 2009 1;203(4):311-8. Epub 2010 Feb 1.

INSERM, U574, Hôpital Necker Enfants Malades, 75743 Paris, France.

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http://dx.doi.org/10.1051/jbio/2009035DOI Listing
April 2010

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

Pediatr Nephrol 2010 Mar 3;25(3):445-51. Epub 2009 Dec 3.

Inserm, U574, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1007/s00467-009-1372-xDOI Listing
March 2010

Can we live without a functional renin-angiotensin system?

Clin Exp Pharmacol Physiol 2008 Apr;35(4):431-3

INSERM, and Collège de France, Paris, France.

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http://dx.doi.org/10.1111/j.1440-1681.2008.04891.xDOI Listing
April 2008

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

N Engl J Med 2007 Dec;357(26):2687-95

INSERM Unité 702, Université Pierre et Marie Curie, Paris 6, Unités Mixtes de Recherche Scientifique 702, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, France.

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http://dx.doi.org/10.1056/NEJMoa071906DOI Listing
December 2007

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

Eur J Pediatr 2008 Mar 19;167(3):311-6. Epub 2007 Apr 19.

Nephrology Unit, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1007/s00431-007-0492-1DOI Listing
March 2008

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

Kidney Int 2005 Jun;67(6):2354-60

INSERM Unit 489; Departments of Neurology, and Nephrology, Tenon Hospital (AP-HP), Paris, France.

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http://dx.doi.org/10.1111/j.1523-1755.2005.00341.xDOI Listing
June 2005

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

Nephrology (Carlton) 2004 Oct;9(5):310-2

Sosyal Sigortalar Kurumu Tepecik Teaching Hospital, Clinics of Pediatrics, Yenisehir Izmir, Turkey.

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http://dx.doi.org/10.1111/j.1440-1797.2004.00324.xDOI Listing
October 2004

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

Ophthalmic Genet 2002 Dec;23(4):199-208

Laboratoire de Génétique et Biologie Moléculaire de la Faculté des Sciences, Université IBN Tofail, Kénitra, Morocco.

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http://dx.doi.org/10.1076/opge.23.4.199.13881DOI Listing
December 2002

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

Nat Genet 2002 Oct 9;32(2):300-5. Epub 2002 Sep 9.

Inserm U423, Tour Lavoisier, Hôpital Necker-Enfants Malades, Université Paris 5, Paris, France.

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http://dx.doi.org/10.1038/ng996DOI Listing
October 2002