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1

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

Stavrou, Christoforos, Pierides, Alkis, Zouvani, Ioanna, Kyriacou, Kyriacos, Antignac, Corinne, Neophytou, Pavlos, Christodoulou, Kyproula, Deltas, C. Constantinou

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 197 KB

english, 1998

2

Adequate clinical control of congenital nephrotic syndrome by enalapril

Sophie Guez, Marisa Giani, Maria Luisa Melzi, Corinne Antignac, Baroukh M. Assael

Journal:

Pediatric Nephrology

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

3

Neuropathologic Characterization of INF2-Related Charcot-Marie-Tooth Disease

Mathis, Stéphane, Funalot, Benoît, Boyer, Olivia, Lacroix, Catherine, Marcorelles, Pascale, Magy, Laurent, Richard, Laurence, Antignac, Corinne, Vallat, Jean-Michel

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 14.32 MB

english, 2014

4

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

Mikó, Ágnes, Menyhárd, Dóra K., Kaposi, Ambrus, Antignac, Corinne, Tory, Kálmán

Journal:

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

5

PAX2 mutations in fetal renal hypodysplasia

Jelena Martinovic-Bouriel, Alexandra Benachi, Maryse Bonnière, Nora Brahimi, Chantal Esculpavit, Nicole Morichon, Michel Vekemans, Corinne Antignac, Rémi Salomon, Féréchté Encha-Razavi, Tania Attié-Bi

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 267 KB

english, 2010

6

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

Vasiliki Kalatzis, Lola Cohen-Solal, Béatrice Cordier, Yaacov Frishberg, Markus Kemper, E. Matti Nuutinen, Eric Legrand, Pierre Cochat, Corinne Antignac

Journal:

Year:

2002

Language:

english

File:

PDF, 190 KB

english, 2002

7

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

Pauline Krug, Vincent Morinière, Sandrine Marlin, Valérie Koubi, Heinz D. Gabriel, Estelle Colin, Dominique Bonneau, Rémi Salomon, Corinne Antignac, Laurence Heidet

Journal:

Year:

2011

Language:

english

File:

PDF, 184 KB

english, 2011

8

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni

Journal:

Year:

2012

Language:

english

File:

PDF, 269 KB

english, 2012

9

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Lemmink, Henny H, Knoers, Nine V A M, Károlyi, Lothar, van Dijk, Henk, Niaudet, Patrick, Antignac, Corinne, Guay-Woodford, Lisa M, Goodyer, Paul R, Carel, Jean-Claude, Hermes, Ad, Seyberth, Hansjörg W

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 626 KB

english, 1998

10

Plasma Membrane Targeting of Podocin Through the Classical Exocytic Pathway: Effect of NPHS2 Mutations

Séverine Roselli, Imane Moutkine, Olivier Gribouval, Alexandre Benmerah, Corinne Antignac

Journal:

Year:

2004

Language:

english

File:

PDF, 4.81 MB

english, 2004

11

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis

Albane le Maire, Thomas Weber, Sophie Saunier, Isabelle Broutin, Corinne Antignac, Arnaud Ducruix, Frédéric Dardel

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2005

Language:

english

File:

PDF, 393 KB

english, 2005

12

Clinicopathological quiz

Corinne Antignac, Michel Broyer, Nicole Hinglais, Renée Habib

Journal:

Pediatric Nephrology

Year:

1987

Language:

english

File:

PDF, 1.08 MB

english, 1987

13

Renal functional reserve in children with reduced renal mass: study by two dietary periods

Corinne Antignac, Catherine Kindermans, Anne-Marie Dartois, Michèle Dechaux, Michel Broyer, Claire Kleinknecht

Journal:

Pediatric Nephrology

Year:

1990

Language:

english

File:

PDF, 830 KB

english, 1990

14

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

Arno Fuchshuber, Patrick Niaudef, Olivier Gribouval, Geneviève Jean, Marie-Claire Gubler, Michel Broyer, Corinne Antignac

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 455 KB

english, 1996

15

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

Martin Zenker, Eduardo Machuca, Corinne Antignac

Journal:

Journal of Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

16

Familial juvenile nephronophthisis

M. Konrad, Sophie Saunier, Joaquim Calado, Marie-Claire Gubler, Michel Broyer, Corinne Antignac

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 242 KB

english, 1998

17

A novel Wilms’ tumor

Nicole Wagner, Kay-Dietrich Wagner, Mickael Afanetti, Fabien Nevo, Corinne Antignac, Jean-Francois Michiels, Andreas Schedl, Etienne Berard

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 990 KB

english, 2008

18

Nephronophthisis-like nephritis associated with fibrous dysplasia of bone

Justine Bacchetta, Roland Chapurlat, Raymonde Bouvier, Corinne Antignac, Laurence Dubourg, Rémi Kohler, Pierre D. Delmas, Pierre Cochat

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008

19

Functional analysis ofBMP4mutations identified in pediatric CAKUT patients

Mansoureh Tabatabaeifar, Karl-Peter Schlingmann, Mieczyslaw Litwin, Sevinc Emre, Aysin Bakkaloglu, Otto Mehls, Corinne Antignac, Franz Schaefer, Stefanie Weber, ESCAPE Trial Group

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 363 KB

english, 2009

20

Analysis of recessiveCD2APandACTN4mutations in steroid-resistant nephrotic syndrome

Geneviève Benoit, Eduardo Machuca, Fabien Nevo, Olivier Gribouval, David Lepage, Corinne Antignac

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 281 KB

english, 2010

21

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

Geneviève Benoit, Eduardo Machuca, Corinne Antignac

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

22

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

Ibtihel Benhaj Mbarek, Saoussen Abroug, Asma Omezzine, Audrey Pawtowski, Marie Claire Gubler, Ali Bouslama, Abdelaziz Harbi, Corinne Antignac

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

23

Benign familial hematuria associated with a novel COL4A4 mutation

S. Ozen, Dilek Ertoy, Laurence Heidet, Loal Cohen-Solal, Haluk Ozen, Nesrin Besbas, Aysin Bakkaoglu, Corinne Antignac

Journal:

Pediatric Nephrology

Year:

2001

Language:

english

File:

PDF, 132 KB

english, 2001

24

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

Paul Thorner, Laurence Heidet, Fernando Moreno Merlo, Vern Edwards, Corinne Antignac, Marie-Claire Gubler

Journal:

Pediatric and Developmental Pathology

Year:

1998

Language:

english

File:

PDF, 1.77 MB

english, 1998

25

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

ESRA ARUN OZER, NEJAT AKSU, HAKAN ERDOGAN, ONDER YAVASCAN, ORHAN KARA, OLIVIER GRIBOUVAL, MARIE-CLAIRE GUBLER, CORINNE ANTIGNAC

Journal:

Year:

2004

Language:

english

File:

PDF, 59 KB

english, 2004

26

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Van Der Loop, Frank T.L., Heidet, Laurence, Timmer, Erika D.J., Van Den Bosch, Bianca J.C., Leinonen, Anu, Antignac, Corinne, Jefferson, J. Ashley, Maxwell, A. Peter, Monnens, Leo A.H., Schroder, Corn

Journal:

Kidney International

Year:

2000

Language:

english

File:

PDF, 411 KB

english, 2000

27

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

Arrondel, Christelle, Deschenes, Georges, Le Meur, Yannick, Viau, Amandine, Cordonnier, Christophe, Fournier, Alain, Amadeo, Stephane, Gubler, Marie-Claire, Antignac, Corinne, Heidet, Laurence

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 267 KB

english, 2004

28

NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

WEBER, STEFANIE, GRIBOUVAL, OLIVIER, ESQUIVEL, ERNIE L, MORINIÈRE, VINCENT, TÊTE, MARIE-JOSÈPHE, LEGENDRE, CHRISTOPHE, NIAUDET, PATRICK, ANTIGNAC, CORINNE

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 112 KB

english, 2004

29

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

Zhang, Shao-Yu, Marlier, Arnaud, Gribouval, Olivier, Gilbert, Thierry, Heidet, Laurence, Antignac, Corinne, Gubler, Marie Claire

Journal:

Kidney International

Year:

2004

Language:

english

File:

PDF, 487 KB

english, 2004

30

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

Plaisier, Emmanuelle, Alamowitch, Sonia, Gribouval, Olivier, Mougenot, Beatrice, Gaudric, Alain, Antignac, Corinne, Roullet, Etienne, Ronco, Pierre

Journal:

Kidney International

Year:

2005

Language:

english

File:

PDF, 181 KB

english, 2005

31

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

Geneviève Benoit, Eduardo Machuca, Laurence Heidet, Corinne Antignac

Journal:

Annals of the New York Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 346 KB

english, 2010

32

10.1038/74166

Antignac, Corinne, Boute, Nicolas, Gribouval, Olivier, Roselli, Séverine, Benessy, France, Lee, Hyunjoo, Fuchshuber, Arno, Dahan, Karin, Gubler, Marie-Claire, Niaudet, Patrick

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 570 KB

english, 2000

33

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Lebre, Anne-Sophie, Morinière, Vincent, Dunand, Olivier, Bensman, Albert, Morichon-Delvallez, Nicole, Antignac, Corinne

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 97 KB

english, 2009

34

Delayed renal failure with extensive mesangiolysis following bone marrow transplantation

Antignac, Corinne, Gubler, Marie-Claire, Leverger, Guy, Broyer, Michel, Habib, Renée, Lacoste, Mireille, Beziau, Agnès, Naizot, Colette

Journal:

Kidney International

Year:

1989

Language:

english

File:

PDF, 1.30 MB

english, 1989

35

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

Antignac, Corinne, Zhou, Jing, Sanak, Marek, Cochat, Pierre, Roussel, Bernard, Deschênes, Georges, Gros, Françoise, Knebelmann, Bertrand, Hors-Cayla, Marie-Claude, Tryggvason, Karl

Journal:

Kidney International

Year:

1992

Language:

english

File:

PDF, 857 KB

english, 1992

36

A molecular approach to inherited kidney disorders

Knebelmann, Bertrand, Antignac, Corinne, Gubler, Marie-Claire, Grünfeld, Jean-Pierre

Journal:

Kidney International

Year:

1993

Language:

english

File:

PDF, 1.36 MB

english, 1993

37

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

Gubler, Marie-Claire, Knebelmann, Bertrand, Beziau, Agnès, Broyer, Michel, Pirson, Yves, Haddoum, Farid, Kleppel, Mary M, Antignac, Corinne

Journal:

Kidney International

Year:

1995

Language:

english

File:

PDF, 786 KB

english, 1995

38

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

Antignac, Corinne, Arduy, Christine H., Beckmann, Jacques S., Benessy, France, Gros, Françoise, Medhioub, Monia, Hildebrandt, Friedhelm, Dufier, Jean-Louis, Kleinknecht, Claire, Broyer, Michel

Journal:

Nature Genetics

Year:

1993

File:

PDF, 366 KB

1993

39

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Mochizuki, Toshio, Lemmink, Henny H., Mariyama, Mariko, Antignac, Corinne, Gubler, Marie-Claire, Pirson, Yves, Verellen-Dumoulin, Christine, Chan, Belinda, Schröder, Cornelis H., Smeets, Hubert J.

Journal:

Nature Genetics

Year:

1994

File:

PDF, 648 KB

1994

40

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

Mollet, Géraldine, Salomon, Rémi, Gribouval, Olivier, Silbermann, Flora, Bacq, Delphine, Landthaler, Gilbert, Milford, David, Nayir, Ahmet, Rizzoni, Gianfranco, Antignac, Corinne

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 643 KB

english, 2002

41

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

Augé, Joelle, Bouissou, François, Antignac, Corinne, Gubler, Marie-Claire, Amiel, Jeanne, Audollent, Sophie, Joly, Dominique, Dureau, Pascal, Salomon, Rémi, Tellier, Anne-Lorraine

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 608 KB

english, 2000

42

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis,Ctns

Stéphanie Cherqui, Vasiliki Kalatzis, Lionel Forestier, Isabelle Poras, Corinne Antignac

Journal:

Year:

2000

Language:

english

File:

PDF, 1.03 MB

english, 2000

43

New aspects of the pathogenesis of cystinosis

Vasiliki Kalatzis,Corinne Antignac

Journal:

Pediatric Nephrology

Year:

2003

Language:

english

File:

PDF, 267 KB

english, 2003

44

Imaging medullary cystic kidney disease with magnetic resonance

Pascal Meier, Maria Teresa Farres, Béatrice Mougenot, Laurent Jacob, Françoise Le Goas, Corinne Antignac, Pierre Ronco

Journal:

American Journal of Kidney Diseases

Year:

2003

Language:

english

File:

PDF, 527 KB

english, 2003

45

Mutations in Uroplakin IIIA Are a Rare Cause of Renal Hypodysplasia in Humans

Eva-Maria Schönfelder, Tanja Knüppel, Velibor Tasic, Predrag Miljkovic, Martin Konrad, Elke Wühl, Corinne Antignac, Aysin Bakkaloglu, Franz Schaefer, Stefanie Weber

Journal:

American Journal of Kidney Diseases

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

46

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Brodin-Sartorius, Albane, Tête, Marie-Josèphe, Niaudet, Patrick, Antignac, Corinne, Guest, Geneviève, Ottolenghi, Chris, Charbit, Marina, Moyse, Dominique, Legendre, Christophe, Lesavre, Philippe

Journal:

Kidney International

Year:

2011

Language:

english

File:

PDF, 276 KB

english, 2011

47

Physical and Genetic Mapping of the Dipeptidase Gene DPEP1 to 16q24.3

Estelle Austruy, Cécile Jeanpierre, Corinne Antignac, Scott A. Whitmore, Nguyen Van Cong, Alain Bernheim, David F. Callen, Claudine Junien

Journal:

Year:

1993

File:

PDF, 209 KB

1993

48

A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

Martin Konrad, Sophie Saunier, Flora Silbermann, France Benessy, Denis Le Paslier, Jean Weissenbach, Michel Broyer, Marie-Claire Gubler, Corinne Antignac

Journal:

Year:

1995

File:

PDF, 398 KB

1995

49

Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines

Marie Chol, Nathalie Nevo, Stéphanie Cherqui, Corinne Antignac, Pierre Rustin

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 659 KB

english, 2004

50

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

Hila Barak, Sung-Ho Huh, Shuang Chen, Cécile Jeanpierre, Jelena Martinovic, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

Journal:

Developmental Cell

Year:

2012

Language:

english

File:

PDF, 4.44 MB

english, 2012