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Corinne Antignac

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Physiology

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Andrea Kerti; Orsolya Lakatos; Beata S Lipska; Vincent Moriniére; Gábor Nyírő; György Reusz; Péter Sallay; Franz Schaefer; Attila Szabó; Tamás Szabó; Corinne Antignac; Ottó Arkossy; Rózsa Csohány; Tivadar Tulassay; Virginia Vega-Warner; Kálmán Tory
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Hila Barak; Christine Bole-Feysot; Shuang Chen; Sung-Ho Huh; Cécile Jeanpierre; Jelena Martinovic; Patrick Nitschké; David M Ornitz; Mélanie Parisot; Rémi Salomon; Corinne Antignac; Raphael Kopan
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

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All Publications

2013: Andrea Kerti; Orsolya Lakatos; Beata S Lipska; Vincent Moriniére; Gábor Nyírő; György Reusz; Péter Sallay; Franz Schaefer; Attila Szabó; Tamás Szabó; Corinne Antignac; Ottó Arkossy; Rózsa Csohány; Tivadar Tulassay; Virginia Vega-Warner; Kálmán Tory
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2013;28(5):751-7.
2012: Hila Barak; Christine Bole-Feysot; Shuang Chen; Sung-Ho Huh; Cécile Jeanpierre; Jelena Martinovic; Patrick Nitschké; David M Ornitz; Mélanie Parisot; Rémi Salomon; Corinne Antignac; Raphael Kopan
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
Developmental cell 2012;22(6):1191-207.
2012: Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
American journal of human genetics 2012;90(5):864-70.
2011: Guillaume Bollée; Karin Dahan; Olivier Devuyst; Martin Flamant; Laurence Heidet; Didier Lacombe; Vincent Morinière; Audrey Pawtowski; Yves Pirson; Corinne Antignac; bertrand knebelmann
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.
Clinical journal of the American Society of Nephrology : CJASN 2011;6(10):2429-38.
2011: Céline Burcklé; Helori-Mael Gaudé; Cécile Jeanpierre; Rémi Salomon; Sophie Saunier; Flora Silbermann; Christine Vesque; Corinne Antignac; Sylvie Schneider-Maunoury
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Human molecular genetics 2011;20(13):2611-27.
2011: Cécile Jeanpierre; Philippe Loget; Guillaume Macé; Jelena Martinovic; Vincent Morinière; Patrick Nitschke; Mélanie Parisot; Audrey Pawtowsky; Rémi Salomon; Frédéric Tores; Jeanne Amiel; Corinne Antignac; Tania Attié-Bitach; Marion Benabou; Patricia Blanchet; Wassila Carpentier; Anne-Lise Delezoide; Dominique Gaillard; Marie Gonzales; Laurence Heidet
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Journal of medical genetics 2011;48(7):497-504.
2011: Pauline Krug; Vincent Morinière; Sandrine Marlin; Valérie Koubi; Heinz D Gabriel; Estelle Colin; Dominique Bonneau; Rémi Salomon; Corinne Antignac; Laurence Heidet
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Human mutation 2011;32(2):183-90.
2011: Olivia Boyer; Geneviève Benoit; Olivier Gribouval; Fabien Nevo; Marie-Josèphe Tête; Jacques Dantal; Brigitte Gilbert-Dussardier; guy touchard; Alexandre Karras; Claire Presne; Jean-Pierre Grunfeld; Christophe Legendre; Dominique Joly; Philippe Rieu; Nabil Mohsin; Thierry Hannedouche; Valérie Moal; Marie-Claire Gubler; Isabelle Broutin; Géraldine Mollet; Corinne Antignac
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
Journal of the American Society of Nephrology : JASN 2011;22(2):239-45.
2011: Edgar Otto; Gokul Ramaswami; Sabine Janssen; Moumita Chaki; Susan J Allen; Weibin Zhou; Rannar Airik; Toby W Hurd; Amiya K Ghosh; Matthias T F Wolf; Bernd Hoppe; Thomas J Neuhaus; Detlef Bockenhauer; David V Milford; Neveen Soliman; Corinne Antignac; Sophie Saunier; Colin A Johnson; Friedhelm Hildebrandt
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Journal of medical genetics 2011;48(2):105-16.
2010: Geneviève Benoit; Eduardo Machuca; Laurence Heidet; Corinne Antignac
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
Annals of the New York Academy of Sciences 2010;1214():83-98.
2010: Geneviève Benoit; Eduardo Machuca; Corinne Antignac
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
Pediatric nephrology (Berlin, Germany) 2010;25(9):1621-32.
2010: Olivia Boyer; Geneviève Benoit; Olivier Gribouval; Fabien Nevo; Audrey Pawtowski; Ilmay Bilge; Zelal Bircan; Georges Deschênes; Lisa M Guay-Woodford; Michelle Hall; Marie-Alice Macher; Kenza Soulami; Constantinos Stefanidis; Robert Weiss; Chantal Loirat; Marie-Claire Gubler; Corinne Antignac
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.
Journal of medical genetics 2010;47(7):445-52.
2010: Eduardo Machuca; Geneviève Benoit; Fabien Nevo; Marie-Josèphe Tête; Olivier Gribouval; Audrey Pawtowski; Per Brandström; Chantal Loirat; Patrick Niaudet; Marie-Claire Gubler; Corinne Antignac
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2010;21(7):1209-17.
2010: Laurence Heidet; Stéphane Decramer; Audrey Pawtowski; Vincent Morinière; Flavio Bandin; bertrand knebelmann; Anne-Sophie Lebre; Stanislas Faguer; Vincent Guigonis; Corinne Antignac; Rémi Salomon
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Clinical journal of the American Society of Nephrology : CJASN 2010;5(6):1079-90.
2010: Jelena Martinovic-Bouriel; alexandra benachi; Maryse Bonnière; Nora Brahimi; Chantal Esculpavit; Nicole Morichon; Michel Vekemans; Corinne Antignac; Rémi Salomon; Férechté Encha-Razavi; Tania Attié-Bitach; Marie-Claire Gubler
PAX2 mutations in fetal renal hypodysplasia.
American journal of medical genetics. Part A 2010;152A(4):830-5.
2010: Geneviève Benoit; Eduardo Machuca; Fabien Nevo; Olivier Gribouval; David Lepage; Corinne Antignac
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2010;25(3):445-51.
2010: Julien Ratelade; Christelle Arrondel; Ghislaine Hamard; Serge Garbay; Scott Harvey; Nathalie Biebuyck; Herbert Schulz; Nick Hastie; Marco Pontoglio; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
Human molecular genetics 2010;19(1):1-15.
2009: Marion Delous; Nathan E Hellman; Helori-Maël Gaudé; Flora Silbermann; André Le Bivic; Rémi Salomon; Corinne Antignac; Sophie Saunier
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
Human molecular genetics 2009;18(24):4711-23.
2009: Eduardo Machuca; Geneviève Benoit; Corinne Antignac
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
Human molecular genetics 2009;18(R2):R185-94.
2009: Géraldine Mollet; Julien Ratelade; Olivia Boyer; Andrea Onetti Muda; Ludivine Morisset; Tiphaine Aguirre Lavin; David Kitzis; Margaret J Dallman; Laurence Bugeon; Norbert Hubner; Marie-Claire Gubler; Corinne Antignac; Ernie L Esquivel
Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2009;20(10):2181-9.
2009: Edgar Otto; K Tory; Massimo Attanasio; Weibin Zhou; M Chaki; Y Paruchuri; E L Wise; Matthias T F Wolf; Boris Utsch; Christian Becker; G Nürnberg; Peter Nürnberg; AHMET NAYIR; Sophie Saunier; Corinne Antignac; Friedhelm Hildebrandt
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
Journal of medical genetics 2009;46(10):663-70.
2009: Marie Corbin; Aurélien de Reyniès; David S Rickman; Dominique Berrebi; Liliane Boccon-Gibod; Sarah Cohen-Gogo; Monique Fabre; Francis Jaubert; Marine Faussillon; Funda Yilmaz; Sabine Sarnacki; Judith Landman-Parker; Catherine Patte; Gudrun Schleiermacher; Corinne Antignac; Cécile Jeanpierre
WNT/beta-catenin pathway activation in Wilms tumors: a unifying mechanism with multiple entries?
Genes, chromosomes & cancer 2009;48(9):816-27.
2009: Anne-Sophie Lebre; Vincent Morinière; Olivier Dunand; Albert Bensman; Nicole Morichon-Delvallez; Corinne Antignac
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
European journal of human genetics : EJHG 2009;17(8):1019-23.
2009: O Boyer; E Machuca; E Esquivel; Corinne Antignac
[Steroid-resistant nephrotic syndrome: recent genetic aspects].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2009;16(6):796-8.
2009: Tangui Maurice; Claire Hippert; Nicolas Serratrice; Grégor Dubois; Chantal Jacquet; Corinne Antignac; Eric J Kremer; Vasiliki Kalatzis
Cystine accumulation in the CNS results in severe age-related memory deficits.
Neurobiology of aging 2009;30(6):987-1000.
2009: Kálmán Tory; Caroline Rousset-Rouvière; Marie-Claire Gubler; Vincent Morinière; Audrey Pawtowski; Céline Becker; Claude Guyot; Sophie Gié; Yaacov Frishberg; Hubert Nivet; Georges Deschênes; Pierre Cochat; Marie-France Gagnadoux; Sophie Saunier; Corinne Antignac; Rémi Salomon
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Kidney international 2009;75(8):839-47.
2009: Eduardo Machuca; Aurélie Hummel; Fabien Nevo; Jacques Dantal; Frank Martinez; Essam Al-Sabban; Véronique Baudouin; Laurent Abel; Jean-Pierre Grünfeld; Corinne Antignac
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
Kidney international 2009;75(7):727-35.
2009: Marie-Claire Gubler; Olivier Gribouval; Vincent Morinière; Audrey Pawtowski; Corinne Antignac
[Mutations in renin-angiotensin system genes and kidney developmental anomalies].
Journal de la Société de biologie 2009;203(4):311-8.
2008: Anne Philippe; Fabien Nevo; Ernie L Esquivel; Dalia Reklaityte; Olivier Gribouval; Marie-Josèphe Tête; Chantal Loirat; Jacques Dantal; Michel Fischbach; Claire Pouteil-Noble; Stéphane Decramer; Martin Hoehne; Thomas Benzing; Marina Charbit; Patrick Niaudet; Corinne Antignac
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2008;19(10):1871-8.
2008: Nicole Wagner; Kay-Dietrich Wagner; Mickael Afanetti; Fabien Nevo; Corinne Antignac; Jean-Francois Michiels; Andreas Schedl; Etienne Berard
A novel Wilms' tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema.
Pediatric nephrology (Berlin, Germany) 2008;23(9):1445-53.
2008: Justine Bacchetta; Roland Chapurlat; Raymonde Bouvier; Corinne Antignac; Laurence Dubourg; Rémi Kohler; Pierre D Delmas; Pierre Cochat
Nephronophthisis-like nephritis associated with fibrous dysplasia of bone.
Pediatric nephrology (Berlin, Germany) 2008;23(9):1559-63.
2008: Claire Hippert; Grégor Dubois; Carole Morin; Olivier Disson; Sandy Ibanes; Chantal Jacquet; Reto Schwendener; Corinne Antignac; Eric J Kremer; Vasiliki Kalatzis
Gene transfer may be preventive but not curative for a lysosomal transport disorder.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(8):1372-81.
2008: Julien Ratelade; Tiphaine Aguirre Lavin; Andrea Onetti Muda; Ludivine Morisset; Géraldine Mollet; Olivia Boyer; Deborah S Chen; Anna Henger; Matthias Kretzler; Norbert Hubner; Clotilde Théry; Marie-Claire Gubler; Xavier Montagutelli; Corinne Antignac; Ernie L Esquivel
Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2008;19(8):1491-9.
2008: Stefanie Weber; Jaclyn C Taylor; Paul Winyard; Kari F Baker; Jessica Sullivan-Brown; Raphael Schild; Tanja Knüppel; Aleksandra M Zurowska; Alberto Caldas-Alfonso; Mieczyslaw Litwin; Sevinc Emre; Gian Marco Ghiggeri; Aysin Bakkaloglu; Otto Mehls; Corinne Antignac; Escape Network; Franz Schaefer; Rebecca D Burdine
SIX2 and BMP4 mutations associate with anomalous kidney development.
Journal of the American Society of Nephrology : JASN 2008;19(5):891-903.
2008: Anne Philippe; S Weber; E L Esquivel; C Houbron; G Hamard; J Ratelade; W Kriz; Franz Schaefer; Marie-Claire Gubler; Corinne Antignac
A missense mutation in podocin leads to early and severe renal disease in mice.
Kidney international 2008;73(9):1038-47.
2008: Rasheed Gbadegesin; Bernward G Hinkes; Bethan E Hoskins; Christopher N Vlangos; Saskia F Heeringa; Jinhong Liu; Chantal Loirat; Fatih Ozaltin; Seema Hashmi; Francis Ulmer; Roxanna Cleper; Robert Ettenger; Corinne Antignac; Roger C Wiggins; Martin Zenker; Friedhelm Hildebrandt
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(4):1291-7.
2008: Nathan E Hellman; June Spector; Jonathan Robinson; Xiaofeng Zuo; Sophie Saunier; Corinne Antignac; John W Tobias; Joshua H Lipschutz
Matrix metalloproteinase 13 (MMP13) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1), regulated by the MAPK pathway, are both necessary for Madin-Darby canine kidney tubulogenesis.
The Journal of biological chemistry 2008;283(7):4272-82.
2008: Nadine Gigarel; Frydman Nelly; Philippe Burlet; Violaine Kerbrat; Gérard Tachdjian; Renato Fanchin; Corinne Antignac; René Frydman; A Munnich; Julie Steffann
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.
Reproductive biomedicine online 2008;16(1):152-8.
2008: Aude Servais; Vincent Morinière; Jean-Pierre Grünfeld; Laure-Hélène Noël; Jean-Michel Goujon; Bernadette Chadefaux-Vekemans; Corinne Antignac
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
Clinical journal of the American Society of Nephrology : CJASN 2008;3(1):27-35.
2007: Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Y Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
The New England journal of medicine 2007;357(26):2687-95.
2007: Matthias T F Wolf; Sophie Saunier; John F O'Toole; N Wanner; T Groshong; Massimo Attanasio; Rémi Salomon; T Stallmach; John A Sayer; R Waldherr; M Griebel; J Oh; Thomas Neuhaus; U Josefiak; Corinne Antignac; Edgar Otto; Friedhelm Hildebrandt
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Kidney international 2007;72(12):1520-6.
2007: Julia Hoefele; Matthias T F Wolf; John F O'Toole; Edgar Otto; Ulla Schultheiss; Georges Dêschenes; Massimo Attanasio; Boris Utsch; Corinne Antignac; Friedhelm Hildebrandt
Evidence of oligogenic inheritance in nephronophthisis.
Journal of the American Society of Nephrology : JASN 2007;18(10):2789-95.
2007: Vasiliki Kalatzis; Nicolas Serratrice; Claire Hippert; Olivier Payet; Carl Arndt; Chantal Cazevieille; Tangui Maurice; Christian Hamel; François Malecaze; Corinne Antignac; Agnes Müller; Eric J Kremer
The ocular anomalies in a cystinosis animal model mimic disease pathogenesis.
Pediatric research 2007;62(2):156-62.
2007: Marie-Claire Gubler; Laurence Heidet; Corinne Antignac
[Alport syndrome or progressive hereditary nephritis with hearing loss].
Néphrologie & thérapeutique 2007;3(3):113-20.
2007: Kálmán Tory; Tiphanie Lacoste; Lydie Burglen; Vincent Morinière; Nathalie Boddaert; Marie-Alice Macher; Brigitte Llanas; Hubert Nivet; Albert Bensman; Patrick Niaudet; Corinne Antignac; Rémi Salomon; Sophie Saunier
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Journal of the American Society of Nephrology : JASN 2007;18(5):1566-75.
2007: Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas LYONNET; Rémi Salomon; Férechté Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
American journal of human genetics 2007;80(1):186-94.
2006: Guillaume Bollée; Fadi Fakhouri; Alexandre Karras; Laure-Hélène Noël; Rémi Salomon; Aude Servais; Philippe Lesavre; Vincent Morinière; Corinne Antignac; Aurélie Hummel
Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(9):2660-3.
2006: Olivier Gribouval; Corinne Antignac; Marie-Claire Gubler
[Mutations in genes in the renin-angiotensin system and renal tubular dysgenesis].
Médecine sciences : M/S 2006;22(3):246-8.
2005: Olivier Gribouval; Marie Gonzales; Thomas Neuhaus; Jacqueline Aziza; Eric Bieth; Nicole Laurent; Jean Marie Bouton; François Feuillet; Saloua Makni; Hatem Ben Amar; Guido Laube; Anne-Lise Delezoide; Raymonde Bouvier; Frédérique Dijoud; Elisabeth Ollagnon-Roman; Joelle Roume; Madeleine Joubert; Corinne Antignac; Marie-Claire Gubler
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nature genetics 2005;37(9):964-8.
2005: Sophie Saunier; Rémi Salomon; Corinne Antignac
Nephronophthisis.
Current opinion in genetics & development 2005;15(3):324-31.
2005: Emmanuelle Plaisier; Sonia Alamowitch; Olivier Gribouval; Béatrice Mougenot; alain gaudric; Corinne Antignac; Etienne Roullet; Pierre Ronco
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.
Kidney international 2005;67(6):2354-60.
2005: Albane le Maire; Thomas Weber; Sophie Saunier; Isabelle Broutin; Corinne Antignac; Arnaud Ducruix; Frédéric Dardel
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.
Proteins 2005;59(2):347-55.
2005: Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(4):465-9.
2005: Géraldine Mollet; Flora Silbermann; Marion Delous; Rémi Salomon; Corinne Antignac; Sophie Saunier
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Human molecular genetics 2005;14(5):645-56.
2005: Corinne Antignac
Molecular basis of steroid-resistant nephrotic syndrome.
Nefrología : publicación oficial de la Sociedad Española Nefrologia 2005;25 Suppl 2():25-8.
2004: Marie Chol; Nathalie Nevo; Stéphanie Cherqui; Corinne Antignac; Pierre Rustin
Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines.
Biochemical and biophysical research communications 2004;324(1):231-5.
2004: Erdener Ozer; Nejat Aksu; Hakan Erdogan; Onder Yavascan; Orhan Kara; Olivier Gribouval; Marie-Claire Gubler; Corinne Antignac
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
Nephrology (Carlton, Vic.) 2004;9(5):310-2.
2004: Shao-Yu Zhang; Arnaud Marlier; Olivier Gribouval; Thierry Gilbert; Laurence Heidet; Corinne Antignac; Marie-Claire Gubler
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
Kidney international 2004;66(3):945-54.
2004: Stefanie Weber; Olivier Gribouval; Ernie L Esquivel; Vincent Morinière; Marie-Josèphe Tête; Christophe Legendre; Patrick Niaudet; Corinne Antignac
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Kidney international 2004;66(2):571-9.
2004: Vasiliki Kalatzis; Nathalie Nevo; Stéphanie Cherqui; Bruno Gasnier; Corinne Antignac
Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
Human molecular genetics 2004;13(13):1361-71.
2004: Christelle Arrondel; Georges Deschênes; Yannick Le Meur; Amandine Viau; Christophe Cordonnier; Alain Fournier; Stephane Amadeo; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
Kidney international 2004;65(6):2030-40.
2004: Séverine Roselli; Laurence Heidet; Mireille Sich; Anna Henger; Matthias Kretzler; Marie-Claire Gubler; Corinne Antignac
Early glomerular filtration defect and severe renal disease in podocin-deficient mice.
Molecular and cellular biology 2004;24(2):550-60.
2004: Séverine Roselli; Imane Moutkine; Olivier Gribouval; Alexandre Benmerah; Corinne Antignac
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Traffic (Copenhagen, Denmark) 2004;5(1):37-44.
2003: Karin Dahan; Olivier Devuyst; Michèle Smaers; Didier Vertommen; Guy Loute; Jean-Michel Poux; Béatrice Viron; Christian Jacquot; Marie-France Gagnadoux; Dominique Chauveau; Mathias Büchler; Pierre Cochat; Jean-Pierre Cosyns; Béatrice Mougenot; Mark H Rider; Corinne Antignac; Christine Verellen-Dumoulin; Yves Pirson
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
Journal of the American Society of Nephrology : JASN 2003;14(11):2883-93.
2003: Jean-Philippe jais; bertrand knebelmann; Iannis Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Karin Dahan; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Journal of the American Society of Nephrology : JASN 2003;14(10):2603-10.
2003: Laurence Heidet; Dorin-Bogdan Borza; Mélanie Jouin; Mireille Sich; Marie-Geneviève Mattei; Yoshikazu Sado; Billy G Hudson; Nicholas Hastie; Corinne Antignac; Marie-Claire Gubler
A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.
The American journal of pathology 2003;163(4):1633-44.
2003: Edgar Otto; Bernhard Schermer; Tomoko Obara; John F O'Toole; Karl S Hiller; Adelheid M Mueller; Rainer G Ruf; Julia Hoefele; Frank Beekmann; Daniel Landau; John W Foreman; Judith A Goodship; Tom Strachan; Andreas Kispert; Matthias T F Wolf; Marie F Gagnadoux; Hubert Nivet; Corinne Antignac; Gerd Walz; Iain A Drummond; Thomas Benzing; Friedhelm Hildebrandt
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Nature genetics 2003;34(4):413-20.
2003: Heike Olbrich; Manfred Fliegauf; Julia Hoefele; Andreas Kispert; Edgar Otto; Andreas Volz; Matthias T F Wolf; Gürsel Sasmaz; Ute Trauer; Richard Reinhardt; Ralf Sudbrak; Corinne Antignac; Norbert Gretz; Gerd Walz; Bernhard Schermer; Thomas Benzing; Friedhelm Hildebrandt; Heymut Omran
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Nature genetics 2003;34(4):455-9.
2003: Vasiliki Kalatzis; Corinne Antignac
New aspects of the pathogenesis of cystinosis.
Pediatric nephrology (Berlin, Germany) 2003;18(3):207-15.
2003: Rainer G Ruf; Cornelia Rensing; Rezan Topaloglu; Lisa M Guay-Woodford; Cornelia Klein; Martin Vollmer; Edgar Otto; Frank Beekmann; Maria Haller; Alexander Wiedensohler; Ernst Leumann; Corinne Antignac; Gianfranco Rizzoni; Guido Filler; Matthias Brandis; James L Weber; Friedhelm Hildebrandt
Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.
Pediatric nephrology (Berlin, Germany) 2003;18(2):105-9.
2002: Vasiliki Kalatzis; Lola Cohen-Solal; Béatrice Cordier; Yaacov Frishberg; Markus Kemper; E Matti Nuutinen; Eric Legrand; Pierre Cochat; Corinne Antignac
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Human mutation 2002;20(6):439-46.
2002: Vasiliki Kalatzis; Corinne Antignac
Cystinosis: from gene to disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002;17(11):1883-6.
2002: Stéphanie Cherqui; Caroline Sevin; Ghislaine Hamard; Vasiliki Kalatzis; Mireille Sich; Marie O Pequignot; Karïn Gogat; marc Mordekhaï ABITBOL; Michel Broyer; Marie-Claire Gubler; Corinne Antignac
Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.
Molecular and cellular biology 2002;22(21):7622-32.
2002: Géraldine Mollet; Rémi Salomon; Olivier Gribouval; Flora Silbermann; Delphine Bacq; Gilbert Landthaler; David Milford; AHMET NAYIR; Gianfranco Rizzoni; Corinne Antignac; Sophie Saunier
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Nature genetics 2002;32(2):300-5.
2002: Rosa Vargas-Poussou; Chunfa Huang; Philippe Hulin; Pascal Houillier; Xavier Jeunemaître; Michel Paillard; Gabrielle Planelles; Michèle Déchaux; R Tyler Miller; Corinne Antignac
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.
Journal of the American Society of Nephrology : JASN 2002;13(9):2259-66.
2002: Mushfequr R Haq; Vasiliki Kalatzis; Marie-Claire Gubler; Margaret M Town; Corinne Antignac; William G Van't Hoff; Adrian S Woolf
Immunolocalization of cystinosin, the protein defective in cystinosis.
Journal of the American Society of Nephrology : JASN 2002;13(8):2046-51.
2002: Cèlia Badenas; Manuel Praga; Baacuterbara Tazón; Laurence Heidet; Christelle Arrondel; Anna Armengol; Amado Andrés; Enrique Morales; Juan Antonio Camacho; Xose Lens; Sonia Dávila; Montserrat Milà; Corinne Antignac; Alejandro Darnell; Roser Torra
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Journal of the American Society of Nephrology : JASN 2002;13(5):1248-54.
2002: Claudia Rohr; Jürgen Prestel; Laurence Heidet; Hiltraud Hosser; Wilhelm Kriz; Randy L Johnson; Corinne Antignac; Ralph Witzgall
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
The Journal of clinical investigation 2002;109(8):1073-82.
2002: Nicolas Boute; Séverine Roselli; Olivier Gribouval; Patrick Niaudet; Marie-Claire Gubler; Corinne Antignac
[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Néphrologie 2002;23(1):35-6.
2002: Séverine Roselli; Olivier Gribouval; Nicolas Boute; Mireille Sich; France Benessy; Tania Attié; Marie-Claire Gubler; Corinne Antignac
Podocin localizes in the kidney to the slit diaphragm area.
The American journal of pathology 2002;160(1):131-9.
2002: Henning Mothes; Laurence Heidet; Christelle Arrondel; Konrad Klaus Richter; Mariana Thiele; Ludwig Patzer; Yoshikazu Sado; Marie-Claire Gubler; Corinne Antignac; Johannes Scheele
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002;17(1):70-4.
2002: Heymut Omran; Gürsel Sasmaz; Karsten Häffner; Andreas Volz; Heike Olbrich; Rachid Melkaoui; Edgar Otto; Thomas F Wienker; Rudolf Korinthenberg; Matthias Brandis; Corinne Antignac; Friedhelm Hildebrandt
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
Journal of the American Society of Nephrology : JASN 2002;13(1):75-9.
2002: Christelle Arrondel; nicolas vodovar; bertrand knebelmann; Jean-Pierre Grünfeld; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
Journal of the American Society of Nephrology : JASN 2002;13(1):65-74.
2001: Vasiliki Kalatzis; Stéphanie Cherqui; Corinne Antignac; B Gasnier
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.
The EMBO journal 2001;20(21):5940-9.
2001: Ralf Birkenhäger; Edgar Otto; M J Schürmann; Martin Vollmer; Eva-Maria Ruf; I Maier-Lutz; Frank Beekmann; Andrea Fekete; Heymut Omran; D Feldmann; D V Milford; Nikola Jeck; Martin Konrad; D Landau; Nine V A M Knoers; Corinne Antignac; Ralf Sudbrak; Andreas Kispert; Friedhelm Hildebrandt
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nature genetics 2001;29(3):310-4.
2001: Seza Ozen; Dilek Ertoy; Laurence Heidet; Lola Cohen-Solal; Haluk Ozen; Nesrin Besbas; A Bakkaoglu; Corinne Antignac
Benign familial hematuria associated with a novel COL4A4 mutation.
Pediatric nephrology (Berlin, Germany) 2001;16(11):874-7.
2001: Vasiliki Kalatzis; Stéphanie Cherqui; G Jean; B Cordier; Pierre Cochat; Michel Broyer; Corinne Antignac
Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.
Journal of the American Society of Nephrology : JASN 2001;12(10):2170-4.
2001: Stéphanie Cherqui; Vasiliki Kalatzis; G Trugnan; Corinne Antignac
The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.
The Journal of biological chemistry 2001;276(16):13314-21.
2001: Heymut Omran; Karsten Häffner; S Burth; Sirpa Ala-Mello; Corinne Antignac; Friedhelm Hildebrandt
Evidence for further genetic heterogeneity in nephronophthisis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(4):755-8.
2001: D Graber; Corinne Antignac; G Deschenes; A Coulin; Y Hermouet; Jean-Michel Pedespan; D Fontan; Gérard Ponsot
[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2001;8(2):186-90.
2001: P Guillem; F Delcambre; Lola Cohen-Solal; J P Triboulet; Corinne Antignac; Laurence Heidet; P Quandalle
Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease.
Gastroenterology 2001;120(1):216-20.
2001: Laurence Heidet; Christelle Arrondel; L Forestier; Lola Cohen-Solal; Géraldine Mollet; B Gutierrez; Christoforos Stavrou; Marie-Claire Gubler; Corinne Antignac
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Journal of the American Society of Nephrology : JASN 2001;12(1):97-106.
2000: Jeanne Amiel; Sophie Audollent; D Joly; Pascal Dureau; Rémi Salomon; AL Tellier; Joëlle Augé; François Bouissou; Corinne Antignac; Marie-Claire Gubler; Michael Eccles; Arnold Munnich; Michel Vekemans; Stanislas LYONNET; Tania Attié-Bitach
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
European journal of human genetics : EJHG 2000;8(11):820-6.
2000: Marie-France Gagnadoux; Tania Attié; Jeanne Amiel; Nadine Gigarel; Jean-Paul Bonnefont; Arnold Munnich; Marie-Claire Gubler; Corinne Antignac
[Prenatal diagnosis of autosomal recessive polycystic kidney disease].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(9):942-7.
2000: Martin Konrad; Martin Vollmer; HH Lemmink; Lambert P van den Heuvel; Nikola Jeck; Rosa Vargas-Poussou; A Lakings; Rainer G Ruf; Georges Deschênes; Corinne Antignac; Lisa M Guay-Woodford; Nine V A M Knoers; Hannsjörg W Seyberth; D Feldmann; Friedhelm Hildebrandt
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Journal of the American Society of Nephrology : JASN 2000;11(8):1449-59.
2000: Martin Vollmer; Nikola Jeck; HH Lemmink; R Vargas; D Feldmann; Martin Konrad; Frank Beekmann; Lambert P van den Heuvel; G Deschenes; Lisa M Guay-Woodford; Corinne Antignac; Hannsjörg W Seyberth; Friedhelm Hildebrandt; Nine V A M Knoers
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(7):970-4.
2000: Laurence Heidet; Yiqiang Cai; Liliane Guicharnaud; Corinne Antignac; Marie-Claire Gubler
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.
The American journal of pathology 2000;156(6):1901-10.
2000: Jean-Philippe jais; bertrand knebelmann; I Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; M Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; C Verellen; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; P Martin; Jens Michael Hertz; C Schröder; Marek Sanak; S Krejcova; M F Carvalho; Juan Saus; Corinne Antignac; H Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Journal of the American Society of Nephrology : JASN 2000;11(4):649-57.
2000: Nicolas Boute; Olivier Gribouval; Séverine Roselli; France Benessy; H Lee; Arno Fuchshuber; Karin Dahan; Marie-Claire Gubler; Patrick Niaudet; Corinne Antignac
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Nature genetics 2000;24(4):349-54.
2000: Sophie Saunier; J Calado; France Benessy; Flora Silbermann; R Heilig; Jean Weissenbach; Corinne Antignac
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
American journal of human genetics 2000;66(3):778-89.
2000: C Costet; Frédéric Betis; Etienne Bérard; Michel Tsimaratos; Sabine Sigaudy; Corinne Antignac; Pierre Gastaud
[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].
Journal français d'ophtalmologie 2000;23(2):158-60.
1999: M Attard; G Jean; L Forestier; Stéphanie Cherqui; William G Van't Hoff; Michel Broyer; Corinne Antignac; Margaret M Town
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
Human molecular genetics 1999;8(13):2507-14.
1999: D Cruz-Robles; R García-Torres; Corinne Antignac; L Forestier; S G de la Puente; R Correa-Rotter; E Garcia-López; L Orozco
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
Clinical genetics 1999;56(3):242-3.
1999: L Forestier; G Jean; M Attard; Stéphanie Cherqui; C Lewis; William G Van't Hoff; Michel Broyer; Margaret M Town; Corinne Antignac
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
American journal of human genetics 1999;65(2):353-9.
1998: E Boye; Géraldine Mollet; L Forestier; Lola Cohen-Solal; Laurence Heidet; Pierre Cochat; Jean-Pierre Grünfeld; J B Palcoux; Marie-Claire Gubler; Corinne Antignac
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
American journal of human genetics 1998;63(5):1329-40.
1998: Paul S Thorner; Laurence Heidet; F Moreno Merlo; Vernon Edwards; Corinne Antignac; Marie-Claire Gubler
Diffuse leiomyomatosis of the esophagus: disorder of cell-matrix interaction?
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 1998;1(6):543-9.
1998: Y Ala; Didier Morin; Bernard Mouillac; N Sabatier; R Vargas; N Cotte; Michèle Déchaux; Corinne Antignac; Marie-Françoise Arthus; Michèle Lonergan; M S Turner; Marie-Noëlle Balestre; G Alonso; Marcel Hibert; Claude Barberis; G N Hendy; Daniel G Bichet; S Jard
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
Journal of the American Society of Nephrology : JASN 1998;9(10):1861-72.
1998: HH Lemmink; Nine V A M Knoers; L Károlyi; H van Dijk; P Niaudet; Corinne Antignac; Lisa M Guay-Woodford; P R Goodyer; J C Carel; A Hermes; Hannsjörg W Seyberth; Leo A H Monnens; Lambert P van den Heuvel
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Kidney international 1998;54(3):720-30.
1998: Rosa Vargas-Poussou; D Feldmann; Martin Vollmer; Martin Konrad; L Kelly; Lambert P van den Heuvel; L Tebourbi; Matthias Brandis; L Karolyi; S C Hebert; HH Lemmink; Georges Deschênes; Friedhelm Hildebrandt; Hannsjörg W Seyberth; Lisa M Guay-Woodford; Nine V A M Knoers; Corinne Antignac
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
American journal of human genetics 1998;62(6):1332-40.
1998: Christoforos Stavrou; Alkis Pierides; Ioanna Zouvani; Kyriacos Kyriacou; Corinne Antignac; P Neophytou; Kyproula Christodoulou; C Constantinou Deltas
Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.
American journal of medical genetics 1998;77(2):149-54.
1998: M Konrad; Sophie Saunier; J Calado; Marie-Claire Gubler; Michel Broyer; Corinne Antignac
Familial juvenile nephronophthisis.
Journal of molecular medicine (Berlin, Germany) 1998;76(5):310-6.
1998: Margaret M Town; G Jean; Stéphanie Cherqui; M Attard; L Forestier; Scott A Whitmore; David F Callen; Olivier Gribouval; Michel Broyer; Gillian P Bates; William G Van't Hoff; Corinne Antignac
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Nature genetics 1998;18(4):319-24.
1998: Laurence Heidet; E Boye; Yiqiang Cai; Yoshikazu Sado; X Zhang; J F Fléjou; F Fékété; Y Ninomiya; Marie-Claire Gubler; Corinne Antignac
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.
The American journal of pathology 1998;152(3):673-8.
1998: Didier Morin; Y Ala; N Sabatier; N Cotte; G Hendy; R Vargas; M Dechaux; Corinne Antignac; Marcel Hibert; Daniel G Bichet; Claude Barberis
Functional study of two V2 vasopressin mutant receptors related to NDI. P322S and P322H.
Advances in experimental medicine and biology 1998;449():391-3.
1998: Rosa Vargas-Poussou; L Forestier; M D Dautzenberg; Patrick Niaudet; Michèle Déchaux; Corinne Antignac
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.
Advances in experimental medicine and biology 1998;449():387-90.
1998: Patrick Niaudet; Michel Broyer; Marie-Claire Gubler; Cécile Jeanpierre; S Barbaux; Corinne Antignac
[Genetics and nephrotic syndrome].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1998;5 Suppl 2():152s-155s.
1997: Michel Tsimaratos; Etienne Bérard; Sabine Sigaudy; T Almahana; Arnauld Delarue; Bertrand Roquelaure; C Costet; Corinne Antignac; Marie-Claire Gubler; G Picon; N Philip; Jacques Sarles
Chronic renal failure and cranioectodermal dysplasia: a further step.
Pediatric nephrology (Berlin, Germany) 1997;11(6):785-6.
1997: Rosa Vargas-Poussou; L Forestier; M D Dautzenberg; Patrick Niaudet; Michèle Déchaux; Corinne Antignac
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN 1997;8(12):1855-62.
1997: Sophie Saunier; J Calado; R Heilig; Flora Silbermann; France Benessy; G Morin; M Konrad; Michel Broyer; Marie-Claire Gubler; Jean Weissenbach; Corinne Antignac
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.
Human molecular genetics 1997;6(13):2317-23.
1997: Corinne Antignac
[Contribution of molecular biology to the diagnosis of monogenic hereditary nephropathies].
La Revue du praticien 1997;47(14):1530-5.
1997: Laurence Heidet; Yiqiang Cai; Yoshikazu Sado; Y Ninomiya; Paul S Thorner; Liliane Guicharnaud; E Boye; V Chauvet; L C Solal; A Beziau; R G Torres; Corinne Antignac; Marie-Claire Gubler
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.
Laboratory investigation; a journal of technical methods and pathology 1997;76(2):233-43.
1997: Boucar Diouf; Abdourahmane Niang; Mamadou Mourtalla Ka; EF Ka; ML Diouf; A Ba; D Droz; France Benessy; Corinne Antignac; Therese Moreira Diop; O Bao
[Nephronophtisis in Senegal: first 3 cases].
Néphrologie 1997;18(7):299-302.
1997: Laurence Heidet; Lola Cohen-Solal; E Boye; Paul S Thorner; M J Kemper; A David; L Larget Piet; J Zhou; Frances Flinter; X Zhang; Marie-Claire Gubler; Corinne Antignac
Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
Cytogenetics and cell genetics 1997;78(3-4):240-6.
1996: bertrand knebelmann; C Breillat; L Forestier; C Arrondel; D Jacassier; I Giatras; L Drouot; Georges Deschênes; Jean-Pierre Grünfeld; Michel Broyer; Marie-Claire Gubler; Corinne Antignac
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
American journal of human genetics 1996;59(6):1221-32.
1996: A Fuchshuber; F Janssen; O Gribouval; Patrick Niaudet; A Kamoun; Corinne Antignac
Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome.
Lancet 1996;347(9007):1050-1.
1996: A Fuchshuber; Patrick Niaudet; O Gribouval; G Jean; Marie-Claire Gubler; Michel Broyer; Corinne Antignac
Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.
Pediatric nephrology (Berlin, Germany) 1996;10(2):135-8.
1996: M Konrad; Sophie Saunier; Laurence Heidet; F Silbermann; France Benessy; J Calado; D Le Paslier; Michel Broyer; Marie-Claire Gubler; Corinne Antignac
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.
Human molecular genetics 1996;5(3):367-71.
1996: G Jean; A Fuchshuber; Margaret M Town; O Gribouval; J A Schneider; Michel Broyer; William G Van't Hoff; Patrick Niaudet; Corinne Antignac
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.
American journal of human genetics 1996;58(3):535-43.
1996: Corinne Antignac; Laurence Heidet
Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.
Contributions to nephrology 1996;117():172-82.
1995: M Konrad; Sophie Saunier; F Silbermann; France Benessy; D Le Paslier; J Weissenbach; Michel Broyer; Marie-Claire Gubler; Corinne Antignac
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.
Genomics 1995;30(3):514-20.
1995: A Fuchshuber; G Jean; O Gribouval; Marie-Claire Gubler; Michel Broyer; Jacques Beckmann; Patrick Niaudet; Corinne Antignac
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.
Human molecular genetics 1995;4(11):2155-8.
1995: Corinne Antignac
Molecular genetics of basement membranes: the paradigm of Alport syndrome.
Kidney international. Supplement 1995;49():S29-33.
1995: Marie-Claire Gubler; bertrand knebelmann; A Beziau; Michel Broyer; Y Pirson; F Haddoum; M M Kleppel; Corinne Antignac
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.
Kidney international 1995;47(4):1142-7.
1995: bertrand knebelmann; L Forestier; L Drouot; S Quinones; C Chuet; France Benessy; J Saus; Corinne Antignac
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.
Human molecular genetics 1995;4(4):675-9.
1994: T Mochizuki; HH Lemmink; M Mariyama; Corinne Antignac; M C Gubler; Y Pirson; C Verellen-Dumoulin; B Chan; Cornelis H Schröder; H J M Smeets
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.
Nature genetics 1994;8(1):77-81.
1994: M Medhioub; D Cherif; France Benessy; F Silbermann; Marie-Claire Gubler; D Le Paslier; D Cohen; J Weissenbach; Jacques Beckmann; Corinne Antignac
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.
Genomics 1994;22(2):296-301.
1994: Corinne Antignac; bertrand knebelmann; L Drouot; F Gros; Georges Deschênes; M C Hors-Cayla; J Zhou; K Tryggvason; Jean-Pierre Grünfeld; Michel Broyer
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
The Journal of clinical investigation 1994;93(3):1195-207.
1993: bertrand knebelmann; Corinne Antignac; N C Gubler; Jean-Pierre Grünfeld
A molecular approach to inherited kidney disorders.
Kidney international 1993;44(6):1205-16.
1993: Friedhelm Hildebrandt; I Singh-Sawhney; B Schnieders; L Centofante; Heymut Omran; A Pohlmann; C Schmaltz; H Wedekind; C Schubotz; Corinne Antignac
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.
American journal of human genetics 1993;53(6):1256-61.
1993: F Sun; bertrand knebelmann; M E Pueyo; Habib Zouali; Suzanne Lesage; Martine Vaxillaire; Philippe Passa; D Cohen; Gilberto Velho; Corinne Antignac
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.
The Journal of clinical investigation 1993;92(3):1174-80.
1993: J Zhou; T Mochizuki; H J M Smeets; Corinne Antignac; P Laurila; A de Paepe; K Tryggvason; S T Reeders
Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
Science (New York, N.Y.) 1993;261(5125):1167-9.
1993: E Austruy; M Cohen-Salmon; Corinne Antignac; Christophe Béroud; I Henry; V C Nguyen; L Brugières; Claudine Junien; Cécile Jeanpierre
Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach.
Cancer research 1993;53(12):2888-94.
1993: Corinne Antignac; C H Arduy; Jacques Beckmann; France Benessy; F Gros; M Medhioub; Friedhelm Hildebrandt; J L Dufier; C Kleinknecht; Michel Broyer
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
Nature genetics 1993;3(4):342-5.
1993: E Austruy; Cécile Jeanpierre; Corinne Antignac; S A Whitmore; N Van Cong; Alain BERNHEIM; D F Callen; Claudine Junien
Physical and genetic mapping of the dipeptidase gene DPEP1 to 16q24.3.
Genomics 1993;15(3):684-7.
1993: Marie-Claire Gubler; Corinne Antignac; Georges Deschênes; bertrand knebelmann; M C Hors-Cayla; Jean-Pierre Grünfeld; Michel Broyer; R Habib
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Advances in nephrology from the Necker Hospital 1993;22():15-35.
1993: bertrand knebelmann; Corinne Antignac; Marie-Claire Gubler; Jean-Pierre Grünfeld
Molecular genetics of Alport syndrome: the clinical consequences.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1993;8(8):677-9.
1993: R Habib; Marie-Claire Gubler; Corinne Antignac; Marie-France Gagnadoux
Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome.
Advances in nephrology from the Necker Hospital 1993;22():43-57.
1992: Corinne Antignac; J Zhou; M Sanak; P Cochat; B Roussel; Georges Deschênes; F Gros; bertrand knebelmann; M C Hors-Cayla; K Tryggvason
Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
Kidney international 1992;42(5):1178-83.
1992: bertrand knebelmann; G Deschenes; F Gros; M C Hors; Jean-Pierre Grünfeld; J Zhou; K Tryggvason; Marie-Claire Gubler; Corinne Antignac
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
American journal of human genetics 1992;51(1):135-42.
1991: Claudine Junien; I Henry; Cécile Jeanpierre; C Lavedan; Corinne Antignac; A Puech; C Beroud
[Antioncogenes: models for tumors in children].
Bulletin du cancer 1991;78(1):57-68.
1990: Corinne Antignac; Catherine Kindermans; A M Dartois; M Dechaux; Michel Broyer; C Kleinknecht
Renal functional reserve in children with reduced renal mass: study by two dietary periods.
Pediatric nephrology (Berlin, Germany) 1990;4(6):607-13.
1990: Cécile Jeanpierre; Corinne Antignac; C Beroud; C Lavedan; I Henry; G Saunders; B Williams; Thomas M Glaser; Claudine Junien
Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.
Genomics 1990;7(3):434-8.
1990: C Kleinknecht; Corinne Antignac; M Dechaux; A M Dartois
[Kidney functional reserve. Studies in humans].
Annales de pédiatrie 1990;37(2):105-8.
1990: R Habib; Marie-Claire Gubler; Corinne Antignac; C Loirat; M F Gangnadoux
[Congenital or childhood nephrotic syndrome with diffuse mesangial sclerosis].
Annales de pédiatrie 1990;37(2):73-7.
1989: Corinne Antignac; Marie-Claire Gubler; G Leverger; Michel Broyer; R Habib
Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.
Kidney international 1989;35(6):1336-44.
1987: Corinne Antignac; Michel Broyer; N Hinglais; R Habib
Clinicopathological quiz. De novo membranous glomerulonephritis (MGN).
Pediatric nephrology (Berlin, Germany) 1987;1(4):673-5.