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1

Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

Yves Dumez, Marc Dommergues, Marie-Claire Gubler, Victor Bunduki, Francoise Narcy, Martine Lemerrer, Laurent Mandelbrot, Richard Berkowitz

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 433 KB

english, 1994

2

Renal failure in the neonate associated with in utero exposure to non-steroidal anti-inflammatory agents

Bert Heijden, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Année:

1995

Langue:

english

Fichier:

PDF, 55 KB

english, 1995

3

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Barbaux, Sandrine, Niaudet, Patrick, Gubler, Marie-Claire, Grünfeld, Jean-Pierre, Jaubert, Francis, Kuttenn, Frédérique, Fékété, Claire Nihoul, Souleyreau-Therville, Nicole, Thibaud, Elisabeth, Fellou

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 404 KB

1997

4

Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development

Véronique Chauvet, Feng Qian, Nicolas Boute, Yiqiang Cai, Bunyong Phakdeekitacharoen, Luis F. Onuchic, Tania Attié-Bitach, Liliane Guicharnaud, Olivier Devuyst, Gregory G. Germino, Marie-Claire Gubler

Journal:

The American Journal of Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 4.24 MB

english, 2002

5

Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

Annette Hammes, Jian-Kan Guo, Gudrun Lutsch, Joerg-Robert Leheste, Danilo Landrock, Ulrike Ziegler, Marie-Claire Gubler, Andreas Schedl

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 556 KB

english, 2001

6

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

Denamur, Erick, Delezoide, Anne-Lise, Alberti, Corinne, Bourillon, Agnès, Gubler, Marie-Claire, Bouvier, Raymonde, Pascaud, Olivier, Elion, Jacques, Grandchamp, Bernard, Michel-Calemard, Laurence, Mis

Journal:

Kidney International

Année:

2010

Langue:

english

Fichier:

PDF, 805 KB

english, 2010

7

COLLAGEN DISTRIBUTION IN FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS: AN IMMUNOFLUORESCENCE AND ULTRASTRUCTURAL IMMUNOGOLD STUDY

CAI, YI, SICH, MIREILLE, BEZIAU, AGNÈS, KLEPPEL, MARY M., GUBLER, MARIE-CLAIRE

Journal:

The Journal of Pathology

Année:

1996

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1996

8

Nephrotic syndrome associated with T-cell lymphoma

Dominique Belghiti, Jean-Paul Vernant, Geneviève Hirbec, Marie-Claire Gubler, Chantal Andre, Alain Sobel

Journal:

Année:

1981

Langue:

english

Fichier:

PDF, 625 KB

english, 1981

9

Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy

Marie-Claire Gubler, Dr. Micheline Levy

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 138 KB

english, 1993

10

PAX2 mutations in oligomeganephronia

Salomon, Remi, Tellier, Anne-Lorraine, Attie-Bitach, Tania, Amiel, Jeanne, Vekemans, Michel, Lyonnet, Stanislas, Dureau, Pascal, Niaudet, Patrick, Gubler, Marie-Claire, Broyer, Michel

Journal:

Kidney International

Année:

2001

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2001

11

Fetal serum ß2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

Françoise Muller, Sophie Dreux, François Audibert, Jean-Jacques Chabaud, Thierry Rousseau, Dominique D'Hervé, Yves Dumez, Sandrine Ngo, Marie-Claire Gubler, Marc Dommergues

Journal:

Prenatal Diagnosis

Année:

2004

Langue:

english

Fichier:

PDF, 97 KB

english, 2004

12

Alport syndrome: a genetic study of 31 families

Rhida M'Rad, Marek Sanak, Georges Deschenes, Jing Zhou, Catherine Bonaiti-Pellie, Laurent Holvoet-Vermaut, Solange Heuertz, Marie-Claire Gubler, Michel Broyer, Jean-Pierre Grunfeld, Karl Tryggvason, M

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 947 KB

english, 1992

13

Variants of Alport's syndrome

J. P. Grünfeld, G. Grateau, Laure-Hélène Noel, R. Charbonneau, Marie-Claire Gubler, C. O. S. Savage, C. M. Lockwood

Journal:

Pediatric Nephrology

Année:

1987

Langue:

english

Fichier:

PDF, 312 KB

english, 1987

14

Glomerular mesangiolipidosis in Alagille syndrome (arteriohepatic dysplasia)

Renée Habib, Jean-Paul Dommergues, Marie-Claire Gubler, Michèle Hadchouel, Marthe Gautier, Michel Odievre, Daniel Alagille

Journal:

Pediatric Nephrology

Année:

1987

Langue:

english

Fichier:

PDF, 3.44 MB

english, 1987

15

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

Année:

1996

Langue:

english

Fichier:

PDF, 455 KB

english, 1996

16

Collagen distribution in human membranous glomerulonephritis

Yi Cai, Agnès Beziau, Mireille Sich, Mary M. Kleppel, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Année:

1996

Langue:

english

Fichier:

PDF, 2.55 MB

english, 1996

17

Familial juvenile nephronophthisis

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

Journal:

Journal of Molecular Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 242 KB

english, 1998

18

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

Andrea Zingg-Schenk, Justine Bacchetta, Pierre Corvol, Annie Michaud, Thomas Stallmach, Pierre Cochat, Olivier Gribouval, Marie-Claire Gubler, Thomas J. Neuhaus

Journal:

European Journal of Pediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 309 KB

english, 2008

19

Cyclosporin therapy in patients with Alport syndrome

Marina Charbit, Marie-Claire Gubler, Michèle Dechaux, Marie-France Gagnadoux, Jean-Pierre Grünfeld, Patrick Niaudet

Journal:

Pediatric Nephrology

Année:

2007

Langue:

english

Fichier:

PDF, 261 KB

english, 2007

20

WT1and glomerular diseases

Patrick Niaudet, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Année:

2006

Langue:

english

Fichier:

PDF, 164 KB

english, 2006

21

In Memoriam: Professor Renée Habib 1924–2009

Michel Broyer, Marie-Claire Gubler, Patrick Niaudet

Journal:

Pediatric Nephrology

Année:

2010

Langue:

english

Fichier:

PDF, 76 KB

english, 2010

22

Inherited renal tubular dysgenesis may not be universally fatal

Ruth Schreiber, Marie-Claire Gubler, Olivier Gribouval, Hanna Shalev, Daniel Landau

Journal:

Pediatric Nephrology

Année:

2010

Langue:

english

Fichier:

PDF, 163 KB

english, 2010

23

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Audrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Année:

2012

Langue:

english

Fichier:

PDF, 395 KB

english, 2012

24

Distribution of α-integrin subunits in fetal polycystic kidney diseases

Farida Daïkha-Dahmane, Françoise Narcy, Marc Dommergues, Mireille Lacoste, Agnes Beziau, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Année:

1997

Langue:

english

Fichier:

PDF, 1.16 MB

english, 1997

25

Chronology of renal scarring in males with Alport syndrome

Clifford E. Kashtan, Marie-Claire Gubler, Susan Sisson-Ross, Michael Mauer

Journal:

Pediatric Nephrology

Année:

1998

Langue:

english

Fichier:

PDF, 166 KB

english, 1998

26

Chronic renal failure after Puumala virus infection

R. Novo, Marie-France Gagnadoux, Yves Le Guenno, Marie-Claire Gubler, Patrick Niaudet, Claude Guyot, Michel Broyer

Journal:

Pediatric Nephrology

Année:

1999

Langue:

english

Fichier:

PDF, 58 KB

english, 1999

27

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

Année:

1998

Langue:

english

Fichier:

PDF, 1.77 MB

english, 1998

28

CAN WE LIVE WITHOUT A FUNCTIONAL RENIN-ANGIOTENSIN SYSTEM?

Corvol Pierre, Michaud Annie, Gribouval Olivier, Gasc Jean-Marie, Gubler Marie-Claire

Journal:

Clinical and Experimental Pharmacology and Physiology

Année:

2008

Langue:

english

Fichier:

PDF, 63 KB

english, 2008

29

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:

Année:

2004

Langue:

english

Fichier:

PDF, 59 KB

english, 2004

30

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

Année:

2004

Langue:

english

Fichier:

PDF, 267 KB

english, 2004

31

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

Année:

2000

Langue:

english

Fichier:

PDF, 570 KB

english, 2000

32

Dense deposit disease: A variant of membranoproliferative glomerulonephritis

Habib, Renée, Gubler, Marie-Claire, Loirat, Chantal, Maïz, H Ben, Levy, Micheline

Journal:

Kidney International

Année:

1975

Langue:

english

Fichier:

PDF, 1.83 MB

english, 1975

33

Early renal changes in hemizygous and heterozygous patients with Fabry's disease

Gubler, Marie-Claire, Lenoir, Gérard, Grünfeld, Jean-Pierre, Ulmann, André, Droz, Dominique, Habib, Renée, Naizot, C, Adafer, E, Grandhomme, C

Journal:

Kidney International

Année:

1978

Langue:

english

Fichier:

PDF, 2.49 MB

english, 1978

34

Effect of various protein diets on growth, renal function, and survival of uremic rats

Kleinknecht, Claire, Salusky, Isidro, Broyer, Michel, Gubler, Marie-Claire

Journal:

Kidney International

Année:

1979

Langue:

english

Fichier:

PDF, 665 KB

english, 1979

35

Genetic heterogeneity of Alport syndrome

Feingold, Josué, Bois, Etienne, Chompert, Agnès, Broyer, Michel, Gubler, Marie-Claire, Grünfeld, Jean-Pierre

Journal:

Kidney International

Année:

1985

Langue:

english

Fichier:

PDF, 334 KB

english, 1985

36

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

Année:

1989

Langue:

english

Fichier:

PDF, 1.30 MB

english, 1989

37

A molecular approach to inherited kidney disorders

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

Journal:

Kidney International

Année:

1993

Langue:

english

Fichier:

PDF, 1.36 MB

english, 1993

38

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

Année:

1995

Langue:

english

Fichier:

PDF, 786 KB

english, 1995

39

Development of human fetal kidney in obstructive uropathy: Correlations with ultrasonography and urine biochemistry

Daïkha-Dahmane, Farida, Dommergues, Marc, Muller, Françoise, Narcy, Françoise, Lacoste, Mireille, Beziau, Agnes, Dumez, Yves, Gubler, Marie-Claire

Journal:

Kidney International

Année:

1997

Langue:

english

Fichier:

PDF, 1.93 MB

english, 1997

40

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

Année:

1994

Fichier:

PDF, 648 KB

1994

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

Année:

2000

Langue:

english

Fichier:

PDF, 608 KB

english, 2000

42

Nail-patella syndrome. Overview on clinical and molecular findings

Bongers, Ernie, Gubler, Marie-Claire, Knoers, Nine

Journal:

Pediatric Nephrology

Année:

2002

Langue:

english

Fichier:

PDF, 296 KB

english, 2002

43

What’s new in… Ciliopathies

Albert C.M. Ong, Marie-Claire Gubler

Journal:

Medicine (Medicine Publishing Company Ltd)

Année:

2011

Langue:

english

Fichier:

PDF, 1.76 MB

english, 2011

44

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:

Année:

1995

Fichier:

PDF, 398 KB

1995

45

Heterogeneous pattern of renal disease associated with homozygous Factor H deficiency

Aude Servais, Laure-Hélène Noël, Marie-Agnes Dragon-Durey, Marie-Claire Gübler, Philippe Rémy, David Buob, Carole Cordonnier, Raïfah Makdassi, Waddah Jaber, Eric Boulanger, Philippe Lesavre, Véronique

Journal:

Human Pathology

Année:

2011

Langue:

english

Fichier:

PDF, 614 KB

english, 2011

46

Heterogeneous histological pattern of membranoproliferative glomerulonephritis associated with alternative pathway abnormalities in human

Aude Servais, Laure-Hélène Noël, Marie-Agnès Dragon-Durey, Fadi Fakhouri, Jacques Blouin, Marie-Claire Gübler, Philippe Lesavre, Chantal Loirat, Jean Pierre Grunfeld, Véronique Frémeaux-Bacchi

Journal:

Molecular Immunology

Année:

2008

Langue:

english

Fichier:

PDF, 69 KB

english, 2008

47

95. Podocyte injury and GL-3 accumulation are progressive in Fabry disease

Behzad Najafian, Marie-Claire Gubler, Chester Whitley, Michael Mauer

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 41 KB

english, 2009

48

96. Natural history and structural–functional relationships (SFR) in Fabry nephropathy (FN)

Behzad Najafian, Marie-Claire Gubler, Chester Whitley, Einar Svarstad, Leif Bostad, Michael Mauer

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 56 KB

english, 2010

49

A Human-Mouse Chimera of the α3α4α5(IV) Collagen Protomer Rescues the Renal Phenotype in Col4a3−/− Alport Mice

Laurence Heidet, Dorin-Bogdan Borza, Mélanie Jouin, Mireille Sich, Marie-Geneviève Mattei, Yoshikazu Sado, Billy G. Hudson, Nicholas Hastie, Corinne Antignac, Marie-Claire Gubler

Journal:

The American Journal of Pathology

Année:

2003

Langue:

english

Fichier:

PDF, 971 KB

english, 2003

50

Podocin Localizes in the Kidney to the Slit Diaphragm Area

Séverine Roselli, Olivier Gribouval, Nicolas Boute, Mireille Sich, France Benessy, Tania Attié, Marie-Claire Gubler, Corinne Antignac

Journal:

The American Journal of Pathology

Année:

2002

Langue:

english

Fichier:

PDF, 2.12 MB

english, 2002