Marie-Claire Gubler

1937 -

occupation: researcher

award received: Officer of the National Order of Merit

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Articles 236

Date

Title

Authors

2016-07-07

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Geert Mortier, Christelle Golzio, Marie-Claire Gubler, Guy Van Camp, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyletal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Aleš Hnízda, Bart L Loeys, Han G. Brunner, Martina Živná, Jana Sovová, Myriam Azou, Johan Vande Walle
2016-03-11

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Sophie Collardeau-Frachon, Tania Attié-Bitach, Gweltas Odye, Marion Delous, Corinne Lebreton, Cécile Jeanpierre, Sophie Saunier, Alexandre Benmerah, Marie-Claire Gubler, Corinne Antignac, Sophie Thomas
2016-11-02

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].

Marie-Claire Gubler, Laurence Heidet
2015-10-21

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

Corinne Antignac, Albane A Bizet, Rebecca Ryan, Marion Delous, Philippe Dubot, José-Alain Sahel, Marie-Claire Gubler, Esben Lorentzen, Andreas W Sailer, Alexandre Benmerah, Sophie Saunier
2015-02-18

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

Corinne Antignac, Marie-Claire Gubler, Michael P. Murphy
2015-02-03

Urinary monocyte chemoattractant protein-1 and hepcidin and early diabetic nephropathy lesions in type 1 diabetes mellitus

Robert L. Hanson, Ramachandran S. Vasan, William C. Knowler, Marie-Claire Gubler
2015-07-13

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

Albane A Bizet, Marie-Claire Gubler, Rebecca Ryan, Corinne Antignac, Cécile Jeanpierre, Sophie Saunier
2015-07-13

A study of new mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Marie-Claire Gubler, Marion Delous, Corinne Antignac, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
2014-05-29

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Edgar A. Otto, Olivier Alibeu, Daniela A Braun, Marie-Claire Gubler, Alexandre Benmerah, Sophie Saunier, Corinne Antignac, Heon Yung Gee, Jan Halbritter, Markus Schueler, Jonathan D Porath, Pauline Krug, Emilie Filhol
2014-05-29

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

Patrick Nitschké, Christine Bôle-Feysot, Christelle Arrondel, Albane A Bizet, Géraldine Mollet, Olivia Boyer, Olivier Gribouval, Sophie Saunier, Marie-Claire Gubler, Corinne Antignac, Sophie Thomas, Emilie Filhol, Flora Silbermann, Laure-Hélène Noel
2014-11-11

Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease

Marie-Claire Gubler, Einar Svarstad, Camilla Tøndel
2014-05-22

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Marie-Alice Macher, Christine Bôle-Feysot, Patrick Nitschké, Vincent Morinière, Laurence Heidet, Marie-Claire Gubler, Corinne Antignac, Solenn Pruvost, Bertrand Knebelmann, Laure-Hélène Noel
2014-11-13

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

Nathalie Boddaert, Michel Tsimaratos, Christelle Arrondel, Valérie Desquiret-Dumas, Géraldine Mollet, Arnaud Chevrollier, Marc Ferre, Olivia Boyer, Olivier Gribouval, Dominique Bonneau, Marie-Claire Gubler, Corinne Antignac, Benoit Funalot, Vincent Procaccio, Alain Verloes
2014-12-19

Cystic gene dosage influences kidney lesions after nephron reduction.

Marie-Claire Gubler
2014-01-30

Fetal renin-angiotensin-system blockade syndrome: renal lesions

Christelle Arrondel, Marie-Claire Gubler
2014-02-01

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

Marie-Claire Gubler, Corinne Antignac
2013-05

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Peter Nürnberg, Gudrun Nürnberg, Véronique Frémeaux-Bacchi, Moglie Le Quintrec, Chantal Loirat, Janine Altmüller, Véronique Baudouin, Georges Deschênes, Mathieu Lemaire, Georges Deschenes, Holger Thiele, Janine Altmüller, Marie-Claire Gubler, Eva Simková
2013-03-28

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes

Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Uffe Birk Jensen, Tania Attié-Bitach, Marie-Claire Gubler, Corinne Antignac, Laurence Heidet, Christel Thauvin-Robinet
2013-05-16

LMX1B mutations cause hereditary FSGS without extrarenal involvement

Véronique Baudouin, Patrick Nitschké, Olivier Gribouval, Olivia Boyer, Marie-Claire Gubler, Corinne Antignac, Keith J Johnson
2013-12-05

The kidney as a reservoir for HIV-1 after renal transplantation

Christine Rouzioux, Nathalie Dejucq-Rainsford, Anne-Pascale Satie, Frank Bienaimé, Olivier Gribouval, Andrea Onetti Muda, Marie-Claire Gubler, Gérard Friedlander, Corinne Antignac, Jean-Paul Viard, Veronique Avettand-Fenoel
2013-10-24

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

Vincent Morinière, Geoffrey Masuyer, Olivier Gribouval, Marie-Claire Gubler, Pierre Corvol
2013-05-01

Renal tubular dysgenesis

Marie-Claire Gubler
2013-02-01

Hepatocyte nuclear factor 1β controls nephron tubular development.

Marie-Claire Gubler, Filippo Massa, Evelyne Fischer, Laurence Heidet
2013-09-02

Compensatory renal growth after unilateral or subtotal nephrectomy in the ovine fetus

Marie-Claire Gubler
2012-08-09

Renal function and histology in children after small bowel transplantation

Olivia Boyer, Marie-Claire Gubler
2011-01-21

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis

Brigitte Gilbert-Dussardier, Géraldine Mollet, Olivier Gribouval, Olivia Boyer, Marie-Claire Gubler, Corinne Antignac
2011-12-22

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Vincent Morinière, Christelle Arrondel, Katherine L Lachlan, Dominique Bonneau, Corinne Antignac, Marie-Claire Gubler, Helen V. Firth, Silvia Majore, Ralph J DeBerardinis, Anne-Lise Delezoide, Francois Cartault
2011-12-01

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

Georges Deschênes, Géraldine Mollet, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Christelle Arrondel, Sophie Saunier, Georges Deschenes, Corinne Antignac, Benoit Funalot, Fabien Nevo, Geneviève Benoit
2011-01-19

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

Tania Attié-Bitach, Marie-Claire Gubler
2011-08-16

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

Marie-Claire Gubler, Jacques Birraux
2011-01-19

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy.

Marie-Claire Gubler, Stephanie Cherqui, Daniel R. Salomon, Brian A. Yeagy
2011-03-10

Heterogeneous pattern of renal disease associated with homozygous factor H deficiency

Aude Servais, Marie-Agnès Dragon-Durey, Marie-Claire Gubler, Véronique Frémeaux-Bacchi

Human - wd:Q43257396

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