Corinne Antignac

Corinne Antignac

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Corinne Antignac

Publications by authors named "Corinne Antignac"

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Nephrotic syndrome and mitochondrial disorders: Questions.

Pediatr Nephrol 2019 Aug 12;34(8):1373-1374. Epub 2019 Mar 12.

Unité de néphrologie pédiatrique, CHU de Nice - Hôpital Archet 2, 151 Route de Saint-Antoine de Ginestière, B.P. 23079, 06202, Nice Cedex 3, France.

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http://dx.doi.org/10.1007/s00467-019-04216-8DOI Listing
August 2019

Nephrotic syndrome and mitochondrial disorders: answers.

Pediatr Nephrol 2019 Aug 12;34(8):1375-1377. Epub 2019 Mar 12.

Unité de néphrologie pédiatrique, CHU de Nice - Hôpital Archet, 151 Route de Saint-Antoine de Ginestière, B.P. 23079, 06202, Nice Cedex 3, France.

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http://dx.doi.org/10.1007/s00467-019-04217-7DOI Listing
August 2019

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Eur J Med Genet 2019 Apr 31;62(4):254-258. Epub 2018 Jul 31.

Division of Nephrology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.024DOI Listing
April 2019

WITHDRAWN: APOL1 risk genotype in Europe: Data in patients with focal segmental glomerulosclerosis and after renal transplantation.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

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Hum Mutat 2018 Dec 22;39(12):1854-1860. Epub 2018 Oct 22.

MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.

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http://dx.doi.org/10.1002/humu.23660DOI Listing
December 2018

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

C-terminal oligomerization of podocin mediates interallelic interactions.

Biochim Biophys Acta Mol Basis Dis 2018 Jul 13;1864(7):2448-2457. Epub 2018 Apr 13.

MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary; Semmelweis University, Ist Department of Pediatrics, Budapest, Hungary; Laboratory of Hereditary Kidney Diseases, INSERM, UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.04.008DOI Listing
July 2018

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

J Biol Chem 2018 03 30;293(11):4122-4133. Epub 2018 Jan 30.

From the Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Paris 75015, France,

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http://dx.doi.org/10.1074/jbc.RA117.001159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858002PMC
March 2018

Abolishment of proximal tubule albumin endocytosis does not affect plasma albumin during nephrotic syndrome in mice.

Kidney Int 2018 02 14;93(2):335-342. Epub 2017 Oct 14.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1016/j.kint.2017.07.024DOI Listing
February 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Ann Intern Med 2018 01 5;168(2):100-109. Epub 2017 Dec 5.

From Columbia University, New York, New York; VU University Medical Center, Amsterdam, the Netherlands; Nephrology Associates, Newark, Delaware; Krysiewicza Children's Hospital, Poznań, Poland; Poznań University of Medical Sciences and Center for Medical Genetics GENESIS, Poznań, Poland; IRCCS Giannina Gaslini Children's Hospital, Genova, Italy; IRCCS San Raffaele Scientific Institute, Milan, Italy; New York University School of Medicine, New York, New York; University of Texas Southwestern Medical Center, Dallas, Texas; and French Institute of Health and Medical Research (INSERM) U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, and Necker Hospital, Paris, France.

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http://dx.doi.org/10.7326/M17-1319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947852PMC
January 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

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.

Pediatr Nephrol 2017 02 1;32(2):277-278. Epub 2015 Dec 1.

Pediatric Nephrology Department, Robert Debré Hospital, 48 boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/s00467-015-3266-4DOI Listing
February 2017

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.

Pediatr Nephrol 2017 02 1;32(2):279-281. Epub 2015 Dec 1.

Pediatric Nephrology Department, Robert Debré Hospital, 48 boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1007/s00467-015-3268-2DOI Listing
February 2017

Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling.

J Am Soc Nephrol 2016 06 8;27(6):1678-88. Epub 2015 Oct 8.

French Institute of Health and Medical Research (INSERM) U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Department of Genetics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.jasn.org/cgi/doi/10.1681/ASN.2014090937
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http://dx.doi.org/10.1681/ASN.2014090937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884097PMC
June 2016

Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.

Medicine (Baltimore) 2016 May;95(20):e3349

From the Department of Nephrology-Transplantation (PI, BK, MZ), Necker Hospital, APHP, Paris; Department of Pathology (MR), Necker Hospital, APHP, Paris; Paris Descartes-Sorbonne Paris Cité University (MR, BK, MZ), Paris; Department of Nephrology (JL), Armed Forces Hospital of Val de Grâce, Paris; Department of Genetics (CA), Necker Hospital, APHP, Paris; Laboratory of Hereditary Kidney Diseases (CA), INSERM U1163, Paris; Imagine Institute (CA), Paris Descartes-Sorbonne Paris Cité University, Paris; and Department of Cell biology (BK, MZ), Institut Necker Enfants Malades, INSERM U1151, Paris, France.

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http://dx.doi.org/10.1097/MD.0000000000003349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902386PMC
May 2016

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2.

Nat Commun 2016 Jan 20;7:10330. Epub 2016 Jan 20.

Mechanisms and Therapeutic Strategies of Chronic Kidney Disease, INSERM U1151-CNRS UMR 8253, Université Paris Descartes, Institut Necker Enfants Malades, Département « Croissance et Signalisation », Hôpital Necker Enfants Malades, 149 Rue de Sèvres, Paris 75015, France.

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http://dx.doi.org/10.1038/ncomms10330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735759PMC
January 2016

Lysosomal Targeting of Cystinosin Requires AP-3.

Traffic 2015 Jul 24;16(7):712-26. Epub 2015 Mar 24.

Inserm U1163, Laboratory of Hereditary Kidney Diseases, Paris, France.

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http://dx.doi.org/10.1111/tra.12277DOI Listing
July 2015

The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis.

Am J Physiol Renal Physiol 2015 May 18;308(10):F1155-66. Epub 2015 Feb 18.

Department of Pediatrics, University of Virginia, Charlottesville, Virginia;

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http://dx.doi.org/10.1152/ajprenal.00591.2014DOI Listing
May 2015

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

J Am Soc Nephrol 2014 Dec 22;25(12):2740-51. Epub 2014 May 22.

Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;

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http://dx.doi.org/10.1681/ASN.2013080912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243343PMC
December 2014

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

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

Kidney Int 2014 Sep 26;86(3):589-99. Epub 2014 Mar 26.

1] Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany [2] Nikolaus-Fiebiger-Center of Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538153032
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http://dx.doi.org/10.1038/ki.2014.72DOI Listing
September 2014

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence.

J Am Soc Nephrol 2014 Jun 7;25(6):1342-8. Epub 2014 Feb 7.

Department of Paediatric Nephrology, Bristol Royal Hospital for Children, Bristol, United Kingdom; Academic Renal Unit, University of Bristol, Southmead Hospital, Bristol, United Kingdom;

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http://dx.doi.org/10.1681/ASN.2013080852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033379PMC
June 2014

Clinical utility gene card for: cystinosis.

Eur J Hum Genet 2014 May 18;22(5). Epub 2013 Sep 18.

1] Inserm U983, Institut Imagine, Université Paris Descartes, Paris, France [2] Department of Genetics, Assistance Publique, Hôpitaux de Paris, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992566PMC
May 2014

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.

Hum Mol Genet 2014 May 6;23(9):2266-78. Epub 2013 Dec 6.

Division of Nephrology, Université catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1093/hmg/ddt617DOI Listing
May 2014

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.

J Neuropathol Exp Neurol 2014 Mar;73(3):223-33

From the Service de Neurologie, CHU de Poitiers, Université de Poitiers, Poitiers, France (SM); EA 6309 "Maintenance myélinique et Neuropathies Périphériques", Faculté de Médecine, Université de Limoges, Limoges, France (SM, BF, LM, LR, J-MV); Service et Laboratoire de Neurologie, Centre de Référence "Neuropathies Périphériques Rares", CHU de Limoges, Limoges, France (BF, LM, LR, J-MV); Départements de Génétique, Biochimie et Génétique Moléculaire, CHU de Limoges, Limoges, France (BF); Inserm U983, Institut IMAGINE, Centre de Référence MARHEA, and Service de Néphrologie pédiatrique, Hôpital Necker-Enfants Malades, Assistance publique-Hôpitaux de Paris, Paris, France (OB); Université Paris Descartes, Sorbonne Paris Cité, Paris, France (OB, CA); Services de Neurologie et d'Anatomie Pathologique, CHU de Bicêtre, Paris XI University, 94270 Le Kremlin-Bicêtre, France (CL); Laboratoire de Pathologie, CHU Brest, Brest, France (PM); and Département de Génétique, Hôpital Necker-Enfants Malades, APHP, Paris, France (CA).

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http://dx.doi.org/10.1097/NEN.0000000000000047DOI Listing
March 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

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

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

[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

Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis.

Kidney Int 2013 Nov 12;84(5):902-10. Epub 2013 Jun 12.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1038/ki.2013.218DOI Listing
November 2013

Cystinosin is a melanosomal protein that regulates melanin synthesis.

FASEB J 2012 Sep 30;26(9):3779-89. Epub 2012 May 30.

Institut National de Santé et de Recherche Médical (INSERM), U1065, Centre Méditerranéen de Médecine Moléculaire, Equipe 1, Biology and Pathology of Melanocytes, Nice, France.

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http://dx.doi.org/10.1096/fj.11-201376DOI Listing
September 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

Dev Cell 2012 Jun;22(6):1191-207

Department of Developmental Biology, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8103, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.devcel.2012.04.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376351PMC
June 2012

Endoplasmic reticulum stress in UMOD-related kidney disease: a human pathologic study.

Am J Kidney Dis 2012 Jan 5;59(1):117-21. Epub 2011 Oct 5.

Service d'Anatomopathologie, Paris, France.

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http://dx.doi.org/10.1053/j.ajkd.2011.08.014DOI Listing
January 2012

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Clin J Am Soc Nephrol 2011 Oct 25;6(10):2429-38. Epub 2011 Aug 25.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.2215/CJN.01220211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359549PMC
October 2011

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.

Hum Mol Genet 2011 Jul 15;20(13):2611-27. Epub 2011 Apr 15.

INSERM U983, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddr164DOI Listing
July 2011

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Pediatr Nephrol 2011 Feb 2;26(2):241-9. Epub 2010 Dec 2.

Biochemistry Department, Sahloul University Hospital, 4054, Sousse, Tunisia.

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http://dx.doi.org/10.1007/s00467-010-1694-8DOI Listing
February 2011

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.

Ann N Y Acad Sci 2010 Dec 22;1214:83-98. Epub 2010 Oct 22.

Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1111/j.1749-6632.2010.05817.xDOI Listing
December 2010

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Pediatr Nephrol 2010 Sep 24;25(9):1621-32. Epub 2010 Mar 24.

Inserm, U983, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1007/s00467-010-1495-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908444PMC
September 2010

What is the risk that I will transmit nephrotic syndrome to my children, Doctor?

NDT Plus 2010 Aug 8;3(4):402-4. Epub 2010 Jun 8.

Inserm, U983, Hôpital Necker-Enfants Malades, Paris , France ; Assistance Publique-Hôpitaux de Paris (AP-HP), Département de Génétique, Hôpital Necker-Enfants Malades, Paris , France ; Université Paris Descartes , Faculté de Médecine Paris Descartes, Paris , France.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ndtp
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http://dx.doi.org/10.1093/ndtplus/sfq095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421528PMC
August 2010

Cell therapy for cystinosis.

Nephrol Dial Transplant 2010 Jul 15;25(7):2103-6. Epub 2010 Apr 15.

Division of Nephrology, Université catholique de Louvain Medical School, B-1200 Brussels, Belgium.

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http://dx.doi.org/10.1093/ndt/gfq198DOI Listing
July 2010

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Clin J Am Soc Nephrol 2010 Jun 8;5(6):1079-90. Epub 2010 Apr 8.

Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

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http://dx.doi.org/10.2215/CJN.06810909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2879303PMC
June 2010

Renal phenotype of the cystinosis mouse model is dependent upon genetic background.

Nephrol Dial Transplant 2010 Apr 21;25(4):1059-66. Epub 2009 Oct 21.

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

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http://dx.doi.org/10.1093/ndt/gfp553DOI Listing
April 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

PAX2 mutations in fetal renal hypodysplasia.

Am J Med Genet A 2010 Apr;152A(4):830-5

AP-HP, Unit of Embryo-Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33133DOI Listing
April 2010

Renin-angiotensin system in kidney development: renal tubular dysgenesis.

Kidney Int 2010 Mar 18;77(5):400-6. Epub 2009 Nov 18.

INSERM, U574, Hôpital Necker Enfants Malades, Faculté de Médecine Paris Descartes, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ki.2009.423DOI Listing
March 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